| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Author Index
|
|
|
|
2 |
S1 |
p.
|
article
|
| 2 |
Editorial Board
|
|
|
|
2 |
S1 |
p.
|
article
|
| 3 |
Masthead
|
|
|
|
2 |
S1 |
p.
|
article
|
| 4 |
O41: A Canadian lab's clinical validation experience with optical genome mapping as a front-line diagnostic test for hematological neoplasms
|
Hamadeh, Zeid
|
|
|
2 |
S1 |
p.
|
article
|
| 5 |
O18: Addressing misattributed parentage discovered through trio-based genetic testing: Best practice guideline developed by multidisciplinary team at a pediatric hospital
|
Paras, Andrea
|
|
|
2 |
S1 |
p.
|
article
|
| 6 |
O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases
|
Ungar, Wendy
|
|
|
2 |
S1 |
p.
|
article
|
| 7 |
O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
|
Rehm, Heidi
|
|
|
2 |
S1 |
p.
|
article
|
| 8 |
O26: Analysis of patient-reported outcomes and a functional assessment from 3-year nitisinone treatment trial in patients with alkaptonuria
|
Spears, Kathryn
|
|
|
2 |
S1 |
p.
|
article
|
| 9 |
O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
|
Brand, Harrison
|
|
|
2 |
S1 |
p.
|
article
|
| 10 |
O19: Antisense oligonucleotide targeting a linked-SNP provides allele-specific and effective knockdown to a dominant negative SPTAN1 pathogenic variant
|
Wang, Christiana
|
|
|
2 |
S1 |
p.
|
article
|
| 11 |
O14: A polygenic score for height to distinguish between children with idiopathic and pathologic short stature
|
Shelley, John
|
|
|
2 |
S1 |
p.
|
article
|
| 12 |
O08: Basic training in reproductive genetics: Enhancing genetic knowledge of subspecialists during fellowship
|
Wapner, Ronald
|
|
|
2 |
S1 |
p.
|
article
|
| 13 |
O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges
|
Lewis, Robert
|
|
|
2 |
S1 |
p.
|
article
|
| 14 |
O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis
|
Hon-Yin Chung, Brian
|
|
|
2 |
S1 |
p.
|
article
|
| 15 |
O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency
|
Sethuraman, Meena
|
|
|
2 |
S1 |
p.
|
article
|
| 16 |
O13: Clinical utility of prenatal cell-free DNA screening for chromosomal aneuploidies in low risk pregnancies after euploid embryo transfer
|
Madjunkov, Mitko
|
|
|
2 |
S1 |
p.
|
article
|
| 17 |
O12: Clonal hematopoiesis-related variants confounding hereditary cancer testing: Results from matched tumor-normal sequencing of 26,329 cancer patients
|
Birsoy, Ozge
|
|
|
2 |
S1 |
p.
|
article
|
| 18 |
O33: Comprehensive identification of gene-disease relationships across the clinical exome through systematic literature review and parallelized evidence curation
|
Kiel, Mark
|
|
|
2 |
S1 |
p.
|
article
|
| 19 |
O42: Development of an anti-sense oligonucleotide therapeutic targeting RhoBTB2-related epileptic encephalopathy
|
Wheeler, Matthew
|
|
|
2 |
S1 |
p.
|
article
|
| 20 |
O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)
|
Bivona, Stephanie
|
|
|
2 |
S1 |
p.
|
article
|
| 21 |
O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics
|
Wurth, Rachel
|
|
|
2 |
S1 |
p.
|
article
|
| 22 |
O32: Ensemble prediction of the impact of missense variants substantially decreases VUS rate in genetic testing
|
Kueffner, Robert
|
|
|
2 |
S1 |
p.
|
article
|
| 23 |
O04: Evaluation of the performance of the Bayesian point system on the variant classification of hereditary cancer predisposition genes
|
Eldomery, Mohammad
|
|
|
2 |
S1 |
p.
|
article
|
| 24 |
O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing?
|
Saunders, Carol
|
|
|
2 |
S1 |
p.
|
article
|
| 25 |
O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city
|
Chung, Wendy
|
|
|
2 |
S1 |
p.
|
article
|
| 26 |
O21: Genetic testing stewardship program: A five year overview of a novel service delivery model
|
Amlie-Wolf, Louise
|
|
|
2 |
S1 |
p.
|
article
|
| 27 |
O44: Genome sequencing as a first-tier prenatal diagnostic test
|
Jobanputra, Vaidehi
|
|
|
2 |
S1 |
p.
|
article
|
| 28 |
O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects
|
Somerville, Cherith
|
|
|
2 |
S1 |
p.
|
article
|
| 29 |
O15: Human endometrial organoid model implicates G6PD-dependant metabolism as a potential targetable pathway in ARID1A mutant gynecological cancers
|
Kalantari, Forouh
|
|
|
2 |
S1 |
p.
|
article
|
| 30 |
O22: Integrating genomic medicine into healthcare: Experience disclosing >5,000 clinically relevant results within the Geisinger MyCode Community Health Initiative
|
Kelly, Melissa
|
|
|
2 |
S1 |
p.
|
article
|
| 31 |
O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium
|
Del Gobbo, Giulia
|
|
|
2 |
S1 |
p.
|
article
|
| 32 |
O29: Low rate of hereditary ovarian cancer screening in individuals meeting National Comprehensive Cancer Network guidelines
|
Omorodion, Jacklyn
|
|
|
2 |
S1 |
p.
|
article
|
| 33 |
O02: Pathogenicity mechanism and gene therapy of hereditary spastic paraplegia caused by recurrent UBAP1 variant
|
Gu, Shen
|
|
|
2 |
S1 |
p.
|
article
|
| 34 |
O06: Penetrance and prevalence of CDKN2A pathogenic variants in a large institutional cohort: Scrutinizing the common p.Ile49Thr variant
|
Gima, Lauren
|
|
|
2 |
S1 |
p.
|
article
|
| 35 |
O09: Phenome-wide studies of hereditary transthyretin amyloidosis in the All of Us research program
|
Williams-Rogers, Cassia
|
|
|
2 |
S1 |
p.
|
article
|
| 36 |
O30: REKLAIM: A first in human phase Ib clinical trial of FBX-101 (AAVrh10.GALC) intravenously administered after UCBT for infantile Krabbe disease
|
Escolar, Maria
|
|
|
2 |
S1 |
p.
|
article
|
| 37 |
O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I
|
Goldstein, Jenny
|
|
|
2 |
S1 |
p.
|
article
|
| 38 |
O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals
|
Johnson, Britt
|
|
|
2 |
S1 |
p.
|
article
|
| 39 |
O16: The new normal: Six years of mainstreaming germline genetic testing across cancer sites
|
Peck, Larissa
|
|
|
2 |
S1 |
p.
|
article
|
| 40 |
O28: The utility of genetic testing in adults with chronic kidney disease: A systematic review and meta-analysis
|
Schott, Clara
|
|
|
2 |
S1 |
p.
|
article
|
| 41 |
O40: UNC EDGE: An undergraduate genomics experience to foster diversity in genomics
|
Powell, Sabrina
|
|
|
2 |
S1 |
p.
|
article
|
| 42 |
O38: Universal exome sequencing in critically-ill adults: A diagnostic yield of 25% and race-based disparities in access to genetic testing
|
Drivas, Theodore
|
|
|
2 |
S1 |
p.
|
article
|
| 43 |
O24: Unveiling the power of HiFi genome sequencing: One test to rule them all?
|
Farrow, Emily
|
|
|
2 |
S1 |
p.
|
article
|
| 44 |
O01: Using multiplexed functional data to reduce the VUS burden in populations underrepresented in genomic medicine
|
Dawood, Moez
|
|
|
2 |
S1 |
p.
|
article
|
| 45 |
O27: Utility of cfDNA in comprehensive genomic profiling of complex vascular anomalies: Informing decision making in medical therapy
|
Li, Dong
|
|
|
2 |
S1 |
p.
|
article
|
| 46 |
O34: Utility of targeted RNA analysis in neurological disorders
|
Ichikawa, Shoji
|
|
|
2 |
S1 |
p.
|
article
|
| 47 |
O03: Vosoritide increases growth velocity in hypochondroplasia: Phase 2 trial results
|
Dauber, Andrew
|
|
|
2 |
S1 |
p.
|
article
|
| 48 |
P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome
|
McDonald-McGinn, Donna
|
|
|
2 |
S1 |
p.
|
article
|
| 49 |
P801: Abortion preferences of patients with abnormal prenatal genetic diagnosis in an access-restricted state
|
Carlisle, Steven
|
|
|
2 |
S1 |
p.
|
article
|
| 50 |
P397: A case of congenital myasthenic syndrome with AChR deficiency due to biallelic variants in CHRNE gene
|
Batheja, Aashish
|
|
|
2 |
S1 |
p.
|
article
|
| 51 |
P407: A case of homozygous LMNA c.991C>T (p.Arg331Trp) laminopathy with predominant cardiomyopathy
|
Sterner, Rosalie
|
|
|
2 |
S1 |
p.
|
article
|
| 52 |
P274: A case of IPEX syndrome caused by a novel mutation in FOXP3 gene, and exhibited abnormal osseous findings
|
Hejla, Duha
|
|
|
2 |
S1 |
p.
|
article
|
| 53 |
P062: A case of ornithine transcarbamylase deficiency
|
Campo, Suad Siuffi
|
|
|
2 |
S1 |
p.
|
article
|
| 54 |
P850: Accelerated optical genome mapping analysis with Stratys compute and guided assembly
|
Cali, Damla Senol
|
|
|
2 |
S1 |
p.
|
article
|
| 55 |
P890: A children’s rights framework for personalized medicine: Solutions to healthcare equity by pivoting to newborn screening and sequencing
|
Brunelli, Luca
|
|
|
2 |
S1 |
p.
|
article
|
| 56 |
P116: A clinical algorithm to guide mainstreaming in pediatric oncology in Quebec
|
Witkowski, Leora
|
|
|
2 |
S1 |
p.
|
article
|
| 57 |
P759: A clinical laboratory experience with a 787-gene carrier screening panel: Comparing Tier 3 and Tier 4 outcomes*
|
Zdrodowski, Jamie
|
|
|
2 |
S1 |
p.
|
article
|
| 58 |
P046: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics
|
Osundiji, Mayowa
|
|
|
2 |
S1 |
p.
|
article
|
| 59 |
P670: A collaborative model integrating clinical genetics and molecular pathology for tumor/normal paired whole exome sequencing testing
|
Liu, Yi
|
|
|
2 |
S1 |
p.
|
article
|
| 60 |
P766: A combined Bayesian inference and machine-learning approach for prenatal screening by cell free DNA of monogenic disorders
|
Liscovitch-Brauer, Noa
|
|
|
2 |
S1 |
p.
|
article
|
| 61 |
P888: A community-based approach to the reporting of secondary findings in Indigenous communities in Canada
|
Coe, Teresa
|
|
|
2 |
S1 |
p.
|
article
|
| 62 |
P088: A comprehensive approach to evaluate genetic abnormalities in plasma cell neoplasms using optical genome mapping and next-generation sequencing
|
Zou, Ying
|
|
|
2 |
S1 |
p.
|
article
|
| 63 |
P659: A comprehensive genotyping study in Mexican patients with Fanconi anemia identified reported, novel, and founder pathogenic variants
|
Torres, Leda
|
|
|
2 |
S1 |
p.
|
article
|
| 64 |
P483: A comprehensive study of spinal muscular atrophy testing referrals’ data among the Iranian population since 2006
|
Khanbazi, Ali
|
|
|
2 |
S1 |
p.
|
article
|
| 65 |
P370: Acquired macrocephaly with impaired intellectual development (MACID): First reported case of an affected child and parental mosaicism
|
Spaeth, Christine
|
|
|
2 |
S1 |
p.
|
article
|
| 66 |
P839: A curated research catalogue of structural variation detected by optical genome mapping
|
Chun Pang, Andy Wing
|
|
|
2 |
S1 |
p.
|
article
|
| 67 |
P052: Acute liver failure in a toddler with known classic galactosemia due to exposure to lactaid milk
|
Walson, Lily
|
|
|
2 |
S1 |
p.
|
article
|
| 68 |
P369: Acute lymphocytic leukemia in a child with Beckwith Wiedemann syndrome: Coincidence or related to loss of CDKN1C function?
|
Martin, Nicole
|
|
|
2 |
S1 |
p.
|
article
|
| 69 |
P707: Additional evidence supporting and expanding the phenotype associated with MED12L loss-of-function variants
|
Rasmussen, Kristen
|
|
|
2 |
S1 |
p.
|
article
|
| 70 |
P753: Additional significant findings in individuals with Ashkenazi Jewish founder variants
|
Basiliere, Michele
|
|
|
2 |
S1 |
p.
|
article
|
| 71 |
P085: Addition of new variant classes to the CIViC data model
|
Danos, Arpad
|
|
|
2 |
S1 |
p.
|
article
|
| 72 |
P728: A de novo interstitial 19q13.12q13.32 duplication: Report of a novel patient and literature review
|
Lyalin, Dmitry
|
|
|
2 |
S1 |
p.
|
article
|
| 73 |
P510: A descriptive analysis of genetic factors identified in 100% pediatric mortality review
|
Giret, Isabella
|
|
|
2 |
S1 |
p.
|
article
|
| 74 |
P067: A descriptive study of the phenotype in individuals with a pathogenic/likely pathogenic intronic variant discovered by RNA sequencing*
|
Fosler, Lindsay
|
|
|
2 |
S1 |
p.
|
article
|
| 75 |
P481: Adherence with NCCN recommendations for patients with pathogenic/likely pathogenic variants in BRCA1 and BRCA2: A single institution study
|
Soiffer, Jenny
|
|
|
2 |
S1 |
p.
|
article
|
| 76 |
P840: Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients
|
Audet, Sebastien
|
|
|
2 |
S1 |
p.
|
article
|
| 77 |
P887: A focus group interview study toward developing a press release guide unique to genomic issues
|
Arakawa, Misaki
|
|
|
2 |
S1 |
p.
|
article
|
| 78 |
P836: A framework and implementation of the Association of Professors of Human and Medical Genetics updated core competencies for medical school
|
Quintero-Rivera, Fabiola
|
|
|
2 |
S1 |
p.
|
article
|
| 79 |
P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome
|
Donoghue, Sarah
|
|
|
2 |
S1 |
p.
|
article
|
| 80 |
P834: A genetic counselors watchlist: Framework for gene discovery
|
Lippa, Natalie
|
|
|
2 |
S1 |
p.
|
article
|
| 81 |
P161: A genetics-first approach to identify novel variants of the calcium sensing receptor associated with autosomal dominant hypocalcemia type 1*
|
Chang, Jeremy
|
|
|
2 |
S1 |
p.
|
article
|
| 82 |
P248: A genotype-first approach to identifying treatable genomic conditions in a large healthcare-based population
|
Murphy, Karyn Meltz
|
|
|
2 |
S1 |
p.
|
article
|
| 83 |
P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
|
Ficicioglu, Can
|
|
|
2 |
S1 |
p.
|
article
|
| 84 |
P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases
|
Verheijen, Jan
|
|
|
2 |
S1 |
p.
|
article
|
| 85 |
P438: AGTPBP1-related neurodevelopmental and movement disorder in a child with ataxia and developmental delays
|
Williams, Monika
|
|
|
2 |
S1 |
p.
|
article
|
| 86 |
P860: A health systems framework to advance equity in medical genetics policy and practice
|
Aden, Muna
|
|
|
2 |
S1 |
p.
|
article
|
| 87 |
P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy
|
Bazalar-Montoya, Jeny
|
|
|
2 |
S1 |
p.
|
article
|
| 88 |
P329: A homozygous start-loss mutation in TERF1 causes a syndrome associated with long telomeres
|
Anandampillai, Tanvi
|
|
|
2 |
S1 |
p.
|
article
|
| 89 |
P797: A likely pathogenic variant of PBX1: Abnormal renal morphology and multiple cardiac anomalies identified by fetal ultrasound
|
Perry, Elana
|
|
|
2 |
S1 |
p.
|
article
|
| 90 |
P597: All for One Clinical Genomics Network: Linking Canadian diagnostic laboratories to share genome-wide sequencing data to support rare disease diagnosis
|
Price, E. Magda
|
|
|
2 |
S1 |
p.
|
article
|
| 91 |
P013: A long-term disease monitoring program in patients with long-chain fatty acid oxidation disorders
|
Inbar-Feigenberg, Michal
|
|
|
2 |
S1 |
p.
|
article
|
| 92 |
P371: Alternative diagnoses of PHACES syndrome with overlapping features
|
Bengur, Ecenur Tuc
|
|
|
2 |
S1 |
p.
|
article
|
| 93 |
P792: Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age
|
Gofin, Yoel
|
|
|
2 |
S1 |
p.
|
article
|
| 94 |
P562: A model for genetic counselor result triage in a busy pediatric neurology division
|
Blanco, Kirsten
|
|
|
2 |
S1 |
p.
|
article
|
| 95 |
P640: Amplification and long-read sequencing of the mitochondrial genome
|
Spangler, Julianna
|
|
|
2 |
S1 |
p.
|
article
|
| 96 |
P585: Amplification-based nanopore sequencing accurately detects HBA and HBB SNVs, indels, and structural variants in clinical thalassemia samples
|
Lopes, Jaime
|
|
|
2 |
S1 |
p.
|
article
|
| 97 |
P432: An adult with Kagami-Ogata syndrome misdiagnosed as Freeman-Sheldon: The importance of genetics follow-up
|
Carter, Lauren
|
|
|
2 |
S1 |
p.
|
article
|
| 98 |
P409: An alpha-mannosidosis journey to the diagnosis: A case report and literature review
|
Suarez, Alissa
|
|
|
2 |
S1 |
p.
|
article
|
| 99 |
P040: Analytical and clinical validation of succinylacetone, amino Acids, and acylcarnitines in dried blood spots on tandem mass spectrometry in Pakistan
|
Jafri, Lena
|
|
|
2 |
S1 |
p.
|
article
|
| 100 |
P718: Analytical validation of a comprehensive targeted DNA sequencing panel for hematologic malignancies
|
Yu, Ruoying
|
|
|
2 |
S1 |
p.
|
article
|
| 101 |
P715: Analyzing performance of the Twist exome with CNV backbone at various probe densities leveraging Golden Helix VS-CNV
|
Fortier, Nathan
|
|
|
2 |
S1 |
p.
|
article
|
| 102 |
P323: An atypical presentation in a child with PTPN11 Noonan syndrome due to TRIO-related neurodevelopmental disorder
|
Motta, Jamie
|
|
|
2 |
S1 |
p.
|
article
|
| 103 |
P442: An atypical presentation of 17q12 recurrent deletion syndrome resulting in the misdiagnosis of Meckel-Gruber syndrome: A case report
|
Renna, Kathleen
|
|
|
2 |
S1 |
p.
|
article
|
| 104 |
P434: An atypical presentation of Williams syndrome in a patient with a co-occurring FOXP4 likely pathogenic variant: A case report
|
Abel, Rebecca
|
|
|
2 |
S1 |
p.
|
article
|
| 105 |
P170: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
|
Kiel, Mark
|
|
|
2 |
S1 |
p.
|
article
|
| 106 |
P816: A new fetal sonographic characteristics of Baraitser–Winter cerebrofrontofacial syndrome with ACTB mutation: Pulmonary stenosis
|
Yan, Kai
|
|
|
2 |
S1 |
p.
|
article
|
| 107 |
P749: A newly created database to improve the process of variant reclassification for a university-based hospital laboratory
|
Hicks, Melissa
|
|
|
2 |
S1 |
p.
|
article
|
| 108 |
P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus
|
Awamleh, Zain
|
|
|
2 |
S1 |
p.
|
article
|
| 109 |
P559: A novel alternate service delivery model for genetic counseling in a rural population: The New Brunswick experience
|
Hodson, Katherine
|
|
|
2 |
S1 |
p.
|
article
|
| 110 |
P441: A novel candidate gene for syndromic bone marrow failure: Haploinsufficiency of SETMAR in a child with severe aplastic anemia
|
Baker, Laura
|
|
|
2 |
S1 |
p.
|
article
|
| 111 |
P833: A novel cardiac genetic knowledge scale: Development and evaluation of face validity and concept validity
|
Christian, Susan
|
|
|
2 |
S1 |
p.
|
article
|
| 112 |
P363: A novel case of Coffin-Siris syndrome due to duplication in 6q25.3
|
Tu, Shao Ching
|
|
|
2 |
S1 |
p.
|
article
|
| 113 |
P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
|
Biesecker, Leslie
|
|
|
2 |
S1 |
p.
|
article
|
| 114 |
P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family
|
Parashar, Kanika
|
|
|
2 |
S1 |
p.
|
article
|
| 115 |
P629: A novel 198 kb partial duplication in KMT2C: Report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma
|
Gaur, Rishabh
|
|
|
2 |
S1 |
p.
|
article
|
| 116 |
P467: A novel mutation in HSPG2 gene causing Schwartz Jampel syndrome
|
Parminder, Parminder
|
|
|
2 |
S1 |
p.
|
article
|
| 117 |
P384: A novel nonsense variant in the DMBX1 gene associated with neurodevelopmental delay: A case report of three siblings
|
Sarkisian, Miriam
|
|
|
2 |
S1 |
p.
|
article
|
| 118 |
P436: A novel pathogenic variant in NALCN gene in a newborn with CLIFAHDD syndrome
|
Altintas, Burak
|
|
|
2 |
S1 |
p.
|
article
|
| 119 |
P200: A novel 13q31.3q32.3 deletion identified on follow up of an inconclusive prenatal cell-Free DNA screening for trisomy 13
|
Berger, Sara
|
|
|
2 |
S1 |
p.
|
article
|
| 120 |
P446: A novel SLC9A6 variant identified in an autistic boy with epilepsy: Christianson syndrome
|
Gupta, Punita
|
|
|
2 |
S1 |
p.
|
article
|
| 121 |
P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections
|
Safgren, Stephanie
|
|
|
2 |
S1 |
p.
|
article
|
| 122 |
P549: A novel team approach to evaluating and counseling children with variants of uncertain significance on microarray
|
Su, Julia
|
|
|
2 |
S1 |
p.
|
article
|
| 123 |
P374: A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric aciduria III
|
Huggins, Erin
|
|
|
2 |
S1 |
p.
|
article
|
| 124 |
P330: A novel WARS2 variant impacting dimerization in trans with a recurrent pathogenic variant in a child with features of NEMMLAS
|
Burns, Christine Bergeon
|
|
|
2 |
S1 |
p.
|
article
|
| 125 |
P620: A PCR/nanopore assay for accurate variant detection in hard-to-decipher carrier screening genes with automated analysis software
|
Killinger, Bryan
|
|
|
2 |
S1 |
p.
|
article
|
| 126 |
P376: A pediatric patient with a novel duplication of 1q21.2 to 1q25.3: A case report
|
Pan, Stephanie
|
|
|
2 |
S1 |
p.
|
article
|
| 127 |
P465: Aplasia cutis congenita associated with trisomy 21: A unique presentation in a 5-month-old female
|
Otersen, Elizabeth
|
|
|
2 |
S1 |
p.
|
article
|
| 128 |
P641: Application of AlphaMissense prediction to pathogenicity classification of missense variants from clinical exome sequencing
|
Zhuo, Xinming
|
|
|
2 |
S1 |
p.
|
article
|
| 129 |
P140: A rare phenomenon: Double trisomy rescue detected during clinical SNP microarray testing*
|
Penton, Andrea
|
|
|
2 |
S1 |
p.
|
article
|
| 130 |
P398: A rare report of a child with mosaic trisomy 4
|
Bartik, Lauren
|
|
|
2 |
S1 |
p.
|
article
|
| 131 |
P739: A recurrent partial trisomy 9 and 18 chromosome in siblings resulting from 3:1 meiotic segregation of a maternal balanced translocation
|
Wright, Carter
|
|
|
2 |
S1 |
p.
|
article
|
| 132 |
P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
|
Shtaya, Aasem Abu
|
|
|
2 |
S1 |
p.
|
article
|
| 133 |
P808: A retrospective analysis of pregnancy outcome and obstetric care in individuals with genetic conditions compared to controls
|
Lazar, Roni Zemet
|
|
|
2 |
S1 |
p.
|
article
|
| 134 |
P063: A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries*
|
Simmons, Timothy
|
|
|
2 |
S1 |
p.
|
article
|
| 135 |
P104: A single-center perspective on glioma epidemiology from 2018-2023 in the Middle East
|
Darvishi, Maryam
|
|
|
2 |
S1 |
p.
|
article
|
| 136 |
P445: A Sotos syndrome case report: Describing the complex work-up following a variant of uncertain significance in the NSD1 gene
|
Quadri, Allegra
|
|
|
2 |
S1 |
p.
|
article
|
| 137 |
P390: Assessing and addressing the burden of VUSs within adult medical genetics practices
|
Stergachis, Andrew
|
|
|
2 |
S1 |
p.
|
article
|
| 138 |
P497: Assessing comfort levels in emergency medicine physicians when managing inborn errors of metabolism
|
Schillaci, Lori-Anne
|
|
|
2 |
S1 |
p.
|
article
|
| 139 |
P742: Assessing stability of frozen samples for Bionano optical single DNA mapping for diagnosis of facioscapulohumeral muscular dystrophy type 1
|
Cook, Sara
|
|
|
2 |
S1 |
p.
|
article
|
| 140 |
P072: Assessing the characteristics associated with carriers of the CHEK2 S428F variant
|
Szmyd, Calan
|
|
|
2 |
S1 |
p.
|
article
|
| 141 |
P685: Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories
|
Tan, Christopher
|
|
|
2 |
S1 |
p.
|
article
|
| 142 |
P262: Assessing urolithiasis polygenic risk score predictive performance across Black and White population groups: Insights from the All of Us database
|
Salem, Amr
|
|
|
2 |
S1 |
p.
|
article
|
| 143 |
P405: Association between Weiss-Kruszka syndrome (WSKA) and obesity
|
Falcon-Rodriguez, Taimy
|
|
|
2 |
S1 |
p.
|
article
|
| 144 |
P698: A streamlined testing of mosaic maternal isodicentric supernumerary chromosome 15q11.2q13 [idic(15)]
|
Yang, Ping
|
|
|
2 |
S1 |
p.
|
article
|
| 145 |
P005: Atidarsagene autotemcel (hematopoietic stem cell–gene therapy) preserves cognitive and motor development in metachromatic leukodystrophy with up to 12 years follow-up*
|
Fumagalli, Francesca
|
|
|
2 |
S1 |
p.
|
article
|
| 146 |
P281: Atypical maternally inherited CDKN1C variant causing IMAGe syndrome in a newborn
|
Groepper, Daniel
|
|
|
2 |
S1 |
p.
|
article
|
| 147 |
P321: Atypical presentation of vascular Ehlers-Danlos syndrome (vEDS)
|
Marvel, Marissa
|
|
|
2 |
S1 |
p.
|
article
|
| 148 |
P724: A unique presentation of triple X syndrome with four copies of SHOX and additional low-level aneuploidy mosaicism
|
Spaulding, Joanna
|
|
|
2 |
S1 |
p.
|
article
|
| 149 |
P354: Automated reanalysis of clinical genetic test results: High variant reclassification rate
|
Huth, Emily
|
|
|
2 |
S1 |
p.
|
article
|
| 150 |
P776: Autosomal recessive cutis laxa type 1B in two successive pregnancies due to a novel homozygous EFEMP2 variant
|
Flamenbaum, Kayla
|
|
|
2 |
S1 |
p.
|
article
|
| 151 |
P648: A validation study using droplet digital PCR to identify copy number changes at complement factor H related gene regions
|
Cheng, Yu-Wei
|
|
|
2 |
S1 |
p.
|
article
|
| 152 |
P459: A variant in KIF4A segregating with an X-linked ocular and neurodevelopmental phenotype in a multigenerational family
|
Wilbur, Justin
|
|
|
2 |
S1 |
p.
|
article
|
| 153 |
P452: A 33-year-old male diagnosed with Pitt-Hopkins syndrome: The spectrum broadens
|
Baek, Jeffrey
|
|
|
2 |
S1 |
p.
|
article
|
| 154 |
P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis
|
Biddle, Joseph
|
|
|
2 |
S1 |
p.
|
article
|
| 155 |
P477: Barriers and facilitators to implementing genomic medicine: A scoping review of the global landscape*
|
Lee, Whiwon
|
|
|
2 |
S1 |
p.
|
article
|
| 156 |
P100: BCR/ABL1 p230 transcript in B-lymphoblastic leukemia/lymphoma: A case report
|
Taghiyev, Agshin
|
|
|
2 |
S1 |
p.
|
article
|
| 157 |
P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*
|
Schleit, Jennifer
|
|
|
2 |
S1 |
p.
|
article
|
| 158 |
P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients
|
Aruta, Matt
|
|
|
2 |
S1 |
p.
|
article
|
| 159 |
P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing
|
Liu, Ruby
|
|
|
2 |
S1 |
p.
|
article
|
| 160 |
P678: Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome
|
Ullah, Farid
|
|
|
2 |
S1 |
p.
|
article
|
| 161 |
P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure
|
Rossi, Vittoria
|
|
|
2 |
S1 |
p.
|
article
|
| 162 |
P377: Biallelic variants of uncertain significance in a newborn with generalized arterial calcification of infancy
|
Aderman, Jessica
|
|
|
2 |
S1 |
p.
|
article
|
| 163 |
P651: Bleeding complications in pregnant carriers of factor IX and factor XI ascertained through carrier screening
|
Johnson, Lisa
|
|
|
2 |
S1 |
p.
|
article
|
| 164 |
P443: Blepharophimosis-intellectual developmental disorder syndrome: First reported case in Hispanic population
|
Rodriguez, David
|
|
|
2 |
S1 |
p.
|
article
|
| 165 |
P552: Bringing equitable access to cancer genetic services: Implementing and adapting a digital hereditary cancer screening tool at an FQHC
|
Pan, Vivian
|
|
|
2 |
S1 |
p.
|
article
|
| 166 |
P741: Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant
|
Hellwig, Tatiana
|
|
|
2 |
S1 |
p.
|
article
|
| 167 |
P869: Building an equitable network to study genetic risk of severe acute malnutrition in multiple African populations
|
Banfield, Emilyn
|
|
|
2 |
S1 |
p.
|
article
|
| 168 |
P761: Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data*
|
Kim, Sung
|
|
|
2 |
S1 |
p.
|
article
|
| 169 |
P033: Cardiac manifestations of Fabry disease: Insights from a clinic population through cardiac magnetic resonance imaging
|
Manternach, Darby
|
|
|
2 |
S1 |
p.
|
article
|
| 170 |
P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
|
Marino, Tania Cruz
|
|
|
2 |
S1 |
p.
|
article
|
| 171 |
P580: Care4Rare Canada: Application of a multi-omics protocol to diagnose rare genetic disease patients at the end of standard-of-care*
|
Soubry, Elisabeth
|
|
|
2 |
S1 |
p.
|
article
|
| 172 |
P681: Carrier screening with the ACMG 113: An early look and new insights
|
Souter, Vivienne
|
|
|
2 |
S1 |
p.
|
article
|
| 173 |
P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic
|
Colasanto, Mary
|
|
|
2 |
S1 |
p.
|
article
|
| 174 |
P322: Case report: A splice site variant in COL4A6 may cause recurrent stroke
|
Liaqat, Khurram
|
|
|
2 |
S1 |
p.
|
article
|
| 175 |
P631: Case report: Haploinsufficiency of the HMGB1 gene causes 13q12.3 microdeletion syndrome
|
Wen, Ting
|
|
|
2 |
S1 |
p.
|
article
|
| 176 |
P810: Case report: Incidental diagnosis of Lynch syndrome by prenatal microarray
|
Wang, Angela
|
|
|
2 |
S1 |
p.
|
article
|
| 177 |
P110: Case report of APC promoter 1B deletion associated with classic FAP
|
O'Connor, Mary
|
|
|
2 |
S1 |
p.
|
article
|
| 178 |
P694: Case report: Unraveling a complex chromosomal rearrangement case using optical genome mapping
|
Ozcan, Zuhal
|
|
|
2 |
S1 |
p.
|
article
|
| 179 |
P814: Cases of survivorship: Prenatal counseling for double heterozygosity in skeletal dysplasia
|
Schelhaas, Andrea
|
|
|
2 |
S1 |
p.
|
article
|
| 180 |
P375: Case study: Germline chromoanagenesis associated with global developmental delay, dysmorphic features and failure to thrive
|
Bhola, Priya
|
|
|
2 |
S1 |
p.
|
article
|
| 181 |
P803: Cautionary tale on preconception counseling and genetic testing in a case of non-ketotic hyperglycinemia (NKH) in dichorionic diamniotic twins
|
Krueger, Laura
|
|
|
2 |
S1 |
p.
|
article
|
| 182 |
P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping
|
Xu, Kexin
|
|
|
2 |
S1 |
p.
|
article
|
| 183 |
P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES
|
Zhai, Yi
|
|
|
2 |
S1 |
p.
|
article
|
| 184 |
P165: Challenges and errors in selecting the most appropriate clinical genetic testing*
|
Urraca, Nora
|
|
|
2 |
S1 |
p.
|
article
|
| 185 |
P246: Challenges in establishing best practices for gene therapy informed consent for hemophilia A/B
|
Lee, Kristy
|
|
|
2 |
S1 |
p.
|
article
|
| 186 |
P751: Challenges in interpretation of RNA-Seq data limit variant reclassification
|
Askree, S. Hussain
|
|
|
2 |
S1 |
p.
|
article
|
| 187 |
P162: Changes of café-au-lait spots intensity by selumetinib in neurofibromatosis type I*
|
Lee, Beomhee
|
|
|
2 |
S1 |
p.
|
article
|
| 188 |
P025: Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia
|
Mori, Mari
|
|
|
2 |
S1 |
p.
|
article
|
| 189 |
P074: Characterization of complex hereditary cancer associated germline variants with long read sequencing
|
Belhadj, Sami
|
|
|
2 |
S1 |
p.
|
article
|
| 190 |
P663: Characterization of Epstein-Barr virus-associated smooth muscle tumor in an immunocompromised patient
|
Wah, Naw Wah
|
|
|
2 |
S1 |
p.
|
article
|
| 191 |
P182: Characterization of neurocognitive differences between mosaic and non-mosaic pediatric Turner syndrome patients
|
Kelsey, Sophia
|
|
|
2 |
S1 |
p.
|
article
|
| 192 |
P686: Characterization of Usher syndrome cell line genotypes and investigation of novel microRNA biomarkers using microRNA microarray and droplet digital PCR
|
Tom, Wesley
|
|
|
2 |
S1 |
p.
|
article
|
| 193 |
P169: Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene
|
Moran, Olivia
|
|
|
2 |
S1 |
p.
|
article
|
| 194 |
P153: Characterizing the spectrum of CACNA1A-related disorders*
|
Coelho da Silva, Emile Moura
|
|
|
2 |
S1 |
p.
|
article
|
| 195 |
P098: CHEK2 variants contributing to hereditary breast cancer in Pakistan: A tertiary healthcare center experience
|
Saleem, Aushna
|
|
|
2 |
S1 |
p.
|
article
|
| 196 |
P705: ChIP-DIP: A highly multiplexed method for mapping DNA-associated proteins to study the epigenomic landscape
|
Goronzy, Isabel
|
|
|
2 |
S1 |
p.
|
article
|
| 197 |
P362: Chromosomal 7p deletion associated with Saethre-Chotzen syndrome
|
Fraustro, Milena
|
|
|
2 |
S1 |
p.
|
article
|
| 198 |
P334: Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion
|
Albokhari, Daniah
|
|
|
2 |
S1 |
p.
|
article
|
| 199 |
P396: Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain
|
Agrons, Kenyon
|
|
|
2 |
S1 |
p.
|
article
|
| 200 |
P250: Clarification of variant reporting for homologous genes resolved through systematic literature review: ACMG SF genes CALM1, CALM2, and CALM3
|
Curry, Kathryn
|
|
|
2 |
S1 |
p.
|
article
|
| 201 |
P689: Classification of TP53 non-synonymous sequence variants using structural and molecular dynamic simulation analyses
|
García, Rolando
|
|
|
2 |
S1 |
p.
|
article
|
| 202 |
P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
|
Mohan, Shruthi
|
|
|
2 |
S1 |
p.
|
article
|
| 203 |
P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*
|
Waddell, Amber
|
|
|
2 |
S1 |
p.
|
article
|
| 204 |
P633: Clinical and genetic findings of >3,900 individuals tested via the navigateAPDS sponsored genetic testing program
|
McLaughlin, Heather
|
|
|
2 |
S1 |
p.
|
article
|
| 205 |
P357: Clinical and genetic profiling of cleidocranial dysplasia: A comprehensive study of 28 Korean patients
|
Ko, Jung Min
|
|
|
2 |
S1 |
p.
|
article
|
| 206 |
P069: Clinical and genomic spectrum of Lynch syndrome in Thailand: A 7-year experience of cancer genetic testing at Siriraj Genomics
|
Kansuttiviwat, Chalermkiat
|
|
|
2 |
S1 |
p.
|
article
|
| 207 |
P084: Clinical integration of potential germline findings from a tumor testing precision medicine program
|
Sanabria-Salas, Maria Carolina
|
|
|
2 |
S1 |
p.
|
article
|
| 208 |
P143: Clinical investigation of bleeding diatheses in patients with Hermansky-Pudlak syndrome*
|
Song, Christopher
|
|
|
2 |
S1 |
p.
|
article
|
| 209 |
P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*
|
Pantovich, Iris
|
|
|
2 |
S1 |
p.
|
article
|
| 210 |
P708: Clinical laboratory quality system enhancement addressing acquired loss of chromosome Y
|
Cox, Hannah
|
|
|
2 |
S1 |
p.
|
article
|
| 211 |
P284: Clinical overlap in two patients with 46,XY DSD and limb abnormalities with identical variant in candidate gene LHX9
|
Shields, Kathleen
|
|
|
2 |
S1 |
p.
|
article
|
| 212 |
P498: Clinical treatment patterns and outcomes of sickle cell from the Arkansas newborn screening long term follow-up database study: 2011-2023
|
Hays, Laura
|
|
|
2 |
S1 |
p.
|
article
|
| 213 |
P601: Clinical utility of MS-MLPA for the diagnosis of Prader-Willi/Angelman syndrome: The GGC experience
|
Shi, Xuemei
|
|
|
2 |
S1 |
p.
|
article
|
| 214 |
P583: Clinical utility of optical genome mapping as an additional test to standard cytogenetic workup of hematological malignancies
|
Toruner, Gokce
|
|
|
2 |
S1 |
p.
|
article
|
| 215 |
P768: Clinical utility of prenatal exome sequencing: Insights from a 10-year cohort
|
Towne, Meghan
|
|
|
2 |
S1 |
p.
|
article
|
| 216 |
P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
|
Koskinen, Lotta
|
|
|
2 |
S1 |
p.
|
article
|
| 217 |
P757: Clinical utility of the 2021 ACMG gene tiers in expanded carrier screening*
|
Neitzel, Dana
|
|
|
2 |
S1 |
p.
|
article
|
| 218 |
P555: Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study
|
Mighton, Chloe
|
|
|
2 |
S1 |
p.
|
article
|
| 219 |
P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders
|
Macakova, Kristina
|
|
|
2 |
S1 |
p.
|
article
|
| 220 |
P133: CNS hemangioblastoma in pediatric patients with von Hippel–Lindau disease: When to start surveillance*
|
Nakano, Yoshiko
|
|
|
2 |
S1 |
p.
|
article
|
| 221 |
P863: Colombian Pacific genetics initiative: A project for the diagnosis and research of genetics rare disease
|
Sinisterra, Stiven
|
|
|
2 |
S1 |
p.
|
article
|
| 222 |
P672: Commercial cystic fibrosis carrier screening tests and coverage of the ACMG 100 recommended variants
|
Tidwell, Timothy
|
|
|
2 |
S1 |
p.
|
article
|
| 223 |
P560: Community-oriented genetics: Establishing a new pediatric genetics clinic in the Muslim-Arab City of Tayibe, Israel
|
Gofin, Yoel
|
|
|
2 |
S1 |
p.
|
article
|
| 224 |
P414: Comorbidity of two uncommon chromosomal disorders: First reported case of 49,XXXXY and Cornelia de Lange syndrome
|
Samango-Sprouse, Carole
|
|
|
2 |
S1 |
p.
|
article
|
| 225 |
P683: Comparative analysis of a targeted pharmacogenomics array panel and genome sequencing in a neonate on extracorporeal membrane oxygenation
|
Mankouski, Anastasiya
|
|
|
2 |
S1 |
p.
|
article
|
| 226 |
P733: Comparative analysis of DNA variant classifications between the GENCOV COVID-19 genome study and the ClinVar database
|
Mahajan, Radhika
|
|
|
2 |
S1 |
p.
|
article
|
| 227 |
P744: Comparative analysis of Ion Torrent sequencing platforms: Unveiling enhanced performance and precision with the Genexus integrated sequencer in clinical applications
|
Liu, Xiaowei
|
|
|
2 |
S1 |
p.
|
article
|
| 228 |
P829: Comparative medical genetics to facilitate the interpretation of rare missense variation
|
Haque, Bushra
|
|
|
2 |
S1 |
p.
|
article
|
| 229 |
P898: Comparing basic genetics knowledge between medical school students in Ecuador and students in the US
|
Quinteros, Badi
|
|
|
2 |
S1 |
p.
|
article
|
| 230 |
P447: Comparing parental perspectives of raising children affected with inherited vs de novo Marfan syndrome
|
Martinez, Breanna Lima
|
|
|
2 |
S1 |
p.
|
article
|
| 231 |
P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease*
|
Chen-Deutsch, Xiangwen
|
|
|
2 |
S1 |
p.
|
article
|
| 232 |
P350: Comparison of hEDS and HSD in a pediatric population
|
Shackelford, Tristin
|
|
|
2 |
S1 |
p.
|
article
|
| 233 |
P119: Comparison of two cases with the same APC genotype and different phenotypes
|
Spier, Eva
|
|
|
2 |
S1 |
p.
|
article
|
| 234 |
P080: Comprehensive overview and analysis of a longstanding pediatric cancer genetics program
|
Gallinger, Bailey
|
|
|
2 |
S1 |
p.
|
article
|
| 235 |
P721: Computational tool performance across BRCA1: A case-control informed analysis
|
Pew, Scott
|
|
|
2 |
S1 |
p.
|
article
|
| 236 |
P101: Confirmation of MYCN amplification as the cause for retinoblastoma eliminates risks for RB related cancers in proband and family members
|
Jessen, Jaime
|
|
|
2 |
S1 |
p.
|
article
|
| 237 |
P778: Congenital brain malformations in TPK1-related disorder: A novel severe phenotype
|
Cilli, Kate
|
|
|
2 |
S1 |
p.
|
article
|
| 238 |
P327: Congenital disorder of glycosylation type IIa with a novel phenotype of bilateral congenital glaucoma
|
Egense, Alena
|
|
|
2 |
S1 |
p.
|
article
|
| 239 |
P044: Congenital erythropoietic porphyria: Disease recurrence after hematopoietic stem cell transplantation
|
Erwin, Angelika
|
|
|
2 |
S1 |
p.
|
article
|
| 240 |
P421: Connecting features in a patient with supernumerary ring chromosome 1
|
Au, Margaret
|
|
|
2 |
S1 |
p.
|
article
|
| 241 |
P885: Connecting patient experience literature to clinical practice: What individuals and parents desire in delivering the diagnosis of sex chromosome aneuploidy
|
Riggan, Kirsten
|
|
|
2 |
S1 |
p.
|
article
|
| 242 |
P015: Connecting the dots (and neurons): Unraveling the genetic basis of neurotransmitters disorders in a large cohort of Brazilian patients
|
Lourenco, Charles
|
|
|
2 |
S1 |
p.
|
article
|
| 243 |
P187: Consent frequency for genetic participation and receiving genetic results in White and non-White participants in SPARK
|
Goler, Alexandra
|
|
|
2 |
S1 |
p.
|
article
|
| 244 |
P114: Considering cancer risk in a patient with CDH1-associated blepharocheilodontic syndrome (BCD1)
|
Mintz, Cassie
|
|
|
2 |
S1 |
p.
|
article
|
| 245 |
P736: Constitutional mosaic pericentromeric trisomy 8 in a female patient with aplastic anemia
|
Gao, Min
|
|
|
2 |
S1 |
p.
|
article
|
| 246 |
P292: Contribution of rare variants in the development of familial premature coronary artery disease in a cohort of cardiac patients
|
Mehvari, Sepideh
|
|
|
2 |
S1 |
p.
|
article
|
| 247 |
P265: Correlating clinical findings with genetic testing results in patients with concern for connective tissue disorders: A retrospective chart review
|
Oberschmidt, Rebecca
|
|
|
2 |
S1 |
p.
|
article
|
| 248 |
P529: Cost-effectiveness analysis of personalized medicine in cardiovascular prevention through adjusted polygenic risk score screening and monitoring
|
Panagiotou, Nikolaos
|
|
|
2 |
S1 |
p.
|
article
|
| 249 |
P554: Cost not a barrier for adopters of pharmacogenetic testing: Results from a study of causal models in different healthcare systems
|
Sperber, Nina
|
|
|
2 |
S1 |
p.
|
article
|
| 250 |
P582: CSMD1 intragenic exonic deletions strengthen the association with neurodevelopmental disorders
|
Chen, Yunjia
|
|
|
2 |
S1 |
p.
|
article
|
| 251 |
P538: Curious but cautious: Patients’ preferences for all types of clinically actionable genomic incidental results
|
Shickh, Salma
|
|
|
2 |
S1 |
p.
|
article
|
| 252 |
P592: Cytogenetic and microarray analysis of prenatally detected congenital heart defects (CHD): Diagnostic findings and variation among CHD subtypes
|
Schwartz, Stuart
|
|
|
2 |
S1 |
p.
|
article
|
| 253 |
P623: Cytogenetic findings in a clinical next generation sequencing panel for very early onset inflammatory bowel disease
|
Hijazi, Hadia
|
|
|
2 |
S1 |
p.
|
article
|
| 254 |
P818: Data from electronic healthcare records expands our understanding of X-linked genetic diseases*
|
Tinker, Rory
|
|
|
2 |
S1 |
p.
|
article
|
| 255 |
P676: Deciphering the collagen code: Navigating variant curation complexities in skeletal disorders
|
Robertson, Pamela Ajuyah
|
|
|
2 |
S1 |
p.
|
article
|
| 256 |
P302: Decoding genetic orchestration: Understanding the cellular and molecular mechanisms of the hematopoietic failure in Fanconi anemia
|
Photi-A, Apichat
|
|
|
2 |
S1 |
p.
|
article
|
| 257 |
P765: Decoding parental reporting preferences from genome sequencing in the presence or absence of a fetal ultrasound phenotype*
|
Pervola, Josie
|
|
|
2 |
S1 |
p.
|
article
|
| 258 |
P440: Decoding the GANAB enigma: Novel insights into pediatric cystic kidney disease
|
Moideen, Adel
|
|
|
2 |
S1 |
p.
|
article
|
| 259 |
P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database
|
Miller, Vanessa Rangel
|
|
|
2 |
S1 |
p.
|
article
|
| 260 |
P192: Deep neurologic phenotyping and biomarker development in Bohring-Opitz syndrome using EEGs, neurodevelopmental assessments, and DNA methylation signature
|
Russell, Bianca
|
|
|
2 |
S1 |
p.
|
article
|
| 261 |
P897: DEIJ advancement in the genomics laboratory through GC-driven advocacy: A process improvement review of sex/gender verification SOPs
|
Essendrup, Anna
|
|
|
2 |
S1 |
p.
|
article
|
| 262 |
P454: Deletion of exons 10 and 11 in FGFR2: Mother and daughter with sagittal craniosynostosis and micrognathia
|
Pappas, John
|
|
|
2 |
S1 |
p.
|
article
|
| 263 |
P501: Delivery of monogenic and polygenic results to participants in the Genomic Medicine at Veterans Affairs (GenoVA) study
|
Danowski, Morgan
|
|
|
2 |
S1 |
p.
|
article
|
| 264 |
P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
|
Booth, Kevin
|
|
|
2 |
S1 |
p.
|
article
|
| 265 |
P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder
|
Bradbrook, Sam
|
|
|
2 |
S1 |
p.
|
article
|
| 266 |
P543: Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada
|
Mackley, Michael
|
|
|
2 |
S1 |
p.
|
article
|
| 267 |
P037: Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH vs allogeneic hematopoietic stem cell transplantation
|
Harmatz, Paul
|
|
|
2 |
S1 |
p.
|
article
|
| 268 |
P058: Design of the prospective study of the clinical, laboratory, and dietary determinates of outcomes in purine and pyrimidine metabolism disorders
|
Haines, Shannon
|
|
|
2 |
S1 |
p.
|
article
|
| 269 |
P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing
|
Jadhav, Tanaya
|
|
|
2 |
S1 |
p.
|
article
|
| 270 |
P571: Detection of isodisomy utilizing SNP microarray: Frequency, ascertainment, and implications*
|
Molinari, Sharon
|
|
|
2 |
S1 |
p.
|
article
|
| 271 |
P125: Detection of pancreatic cancer in liquid biopsies using integrative fragmentomics
|
Rahat, Dolev
|
|
|
2 |
S1 |
p.
|
article
|
| 272 |
P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis
|
Kin Chau, Matthew Hoi
|
|
|
2 |
S1 |
p.
|
article
|
| 273 |
P658: Detection of variant parent-of-origin in diverse hereditary cancer syndromes using only the proband’s blood sample
|
Schrader, Kasmintan
|
|
|
2 |
S1 |
p.
|
article
|
| 274 |
P544: Developing a health human resource funding and clinical oversight model for genetic services: The Ontario approach
|
Telfer, Frank
|
|
|
2 |
S1 |
p.
|
article
|
| 275 |
P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development
|
Cheerie, David
|
|
|
2 |
S1 |
p.
|
article
|
| 276 |
P531: Developing the patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing value of genetic testing from patients’ perspectives in multiple clinical contexts
|
Poole, Elise
|
|
|
2 |
S1 |
p.
|
article
|
| 277 |
P642: Development and deployment of clinical genome sequencing using a cloud-based platform
|
Lau, Lynette
|
|
|
2 |
S1 |
p.
|
article
|
| 278 |
P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period
|
Bedoukian, Emma
|
|
|
2 |
S1 |
p.
|
article
|
| 279 |
P843: Development of a logic model to inform a measurement strategy for a provincial genetics program: Approach and lessons learned
|
Marani, Husayn
|
|
|
2 |
S1 |
p.
|
article
|
| 280 |
P646: Development of an affordable rapid human genome sequencing assay using long read PromethiON 2
|
Deng, Wayne Xianding
|
|
|
2 |
S1 |
p.
|
article
|
| 281 |
P541: Development of a provincial genetics program in Ontario
|
Bell, Kathleen
|
|
|
2 |
S1 |
p.
|
article
|
| 282 |
P252: Development of a scoring system to define lysosomal diseases
|
Wilke, Matheus
|
|
|
2 |
S1 |
p.
|
article
|
| 283 |
P209: Development of a single comprehensive genomic test based on long-read sequencing technology for the diagnosis of rare genetic disorders
|
Sen, Siddhartha
|
|
|
2 |
S1 |
p.
|
article
|
| 284 |
P730: Development of comprehensive gene-/disease-specific analysis and knowledgebase to enhance the efficiency and accuracy of sequence variant interpretation and clinical reporting
|
He, Dandan
|
|
|
2 |
S1 |
p.
|
article
|
| 285 |
P809: Diagnosis and management of pregnant people with inborn errors of metabolism in an adult reproductive genetics and genomics clinic
|
Talati, Asha
|
|
|
2 |
S1 |
p.
|
article
|
| 286 |
P774: Diagnosis of Au Kline syndrome in a fetus with lower urinary tract obstruction: Case report and literature review
|
Burrill, Natalie
|
|
|
2 |
S1 |
p.
|
article
|
| 287 |
P237: Diagnosis of Cornelia de Lange syndrome through EPISign whole genome methylation assay: Findings from a twin case
|
Jong, Tiffany
|
|
|
2 |
S1 |
p.
|
article
|
| 288 |
P596: Diagnostic challenges and phenotypic variations in chimeric genome-wide maternal and paternal uniparental disomy: A prenatal and postnatal perspective
|
Myers, Candace
|
|
|
2 |
S1 |
p.
|
article
|
| 289 |
P241: Diagnostic delays in ATP1A3 disorders
|
Lea, Jenna
|
|
|
2 |
S1 |
p.
|
article
|
| 290 |
P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders
|
Abolhassani, Ayda
|
|
|
2 |
S1 |
p.
|
article
|
| 291 |
P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders
|
Okur, Volkan
|
|
|
2 |
S1 |
p.
|
article
|
| 292 |
P451: Digenic inheritance of pathogenic variants in DICER1 and CACNA1I can present as Glow syndrome
|
Gonullu-Rotman, Damla
|
|
|
2 |
S1 |
p.
|
article
|
| 293 |
P832: Discovering phenotype-gene correlations using Variant WorkBench
|
Guo, Yiran
|
|
|
2 |
S1 |
p.
|
article
|
| 294 |
P273: Discovery of a germline EZH2 variant reveals Weaver syndrome during sequencing of a B-cell acute lymphoblastic leukemia (B-ALL)
|
Jajosky, Audrey
|
|
|
2 |
S1 |
p.
|
article
|
| 295 |
P893: Disparities in pediatric exome sequencing outcomes
|
Omorodion, Jacklyn
|
|
|
2 |
S1 |
p.
|
article
|
| 296 |
P335: Distinct clinical presentations of affected siblings with acute intermittent porphyria caused by a common pathogenic variant in HMBS
|
Simeonova, Plamena
|
|
|
2 |
S1 |
p.
|
article
|
| 297 |
P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program
|
Miller, Nicole
|
|
|
2 |
S1 |
p.
|
article
|
| 298 |
P258: Diversity of CFTR mutations in a Pakistani population: Implications for comprehensive genetic testing and genetic counseling in cystic fibrosis
|
Safdar, Anum
|
|
|
2 |
S1 |
p.
|
article
|
| 299 |
P740: DMD or not DMD? Clinical genome sequencing in the interpretation of complex copy number gains
|
Higginbotham, Edward
|
|
|
2 |
S1 |
p.
|
article
|
| 300 |
P837: DNA methylation profiling in Kabuki syndrome: Steps towards improved classification of variants of uncertain significance
|
Choufani, Sanaa
|
|
|
2 |
S1 |
p.
|
article
|
| 301 |
P244: DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity
|
Vahidnezhad, Hassan
|
|
|
2 |
S1 |
p.
|
article
|
| 302 |
P564: Doing no harm: Exploring the psychosocial impacts of receiving secondary findings from whole exome sequencing
|
Rokoszak, Vanessa
|
|
|
2 |
S1 |
p.
|
article
|
| 303 |
P123: Donor-cell derived hematological neoplasm: Case presentations of a complex and rare event
|
Ruggeri, Jeanine
|
|
|
2 |
S1 |
p.
|
article
|
| 304 |
P503: Do social needs at diagnosis influence acceptance of genetic testing? A retrospective sample of people with ovarian cancer
|
Henrikson, Nora
|
|
|
2 |
S1 |
p.
|
article
|
| 305 |
P453: Double heterozygous variants in ACVRL1 and GDF2 causing hereditary hemorrhagic telangiectasia and GDF2-related vascular anomaly syndrome
|
Girnary, Zahra
|
|
|
2 |
S1 |
p.
|
article
|
| 306 |
P285: Double somatic mosaic for pathogenic variants in PIK3CA and GNAQ
|
Allen, Dylan
|
|
|
2 |
S1 |
p.
|
article
|
| 307 |
P113: Double trouble: Unraveling the clinical challenges of dual pathogenic variant carriers in hereditary cancer predisposition genes
|
Zhu, Yun Amber
|
|
|
2 |
S1 |
p.
|
article
|
| 308 |
P189: Drosophila modeling reclassifies VoUS in EED and PRC2 members: Relevance for clinical interpretation and rare variant burden testing in populations
|
Gibson, William
|
|
|
2 |
S1 |
p.
|
article
|
| 309 |
P346: DTC-GT case scenarios: Comparing ChatGPT answers to an approach developed by genetics health professionals
|
Baker, Christopher
|
|
|
2 |
S1 |
p.
|
article
|
| 310 |
P748: Duplication of 12q24.11-q24.31 in a patient with Noonan-like features
|
Francescatto, Ludmila
|
|
|
2 |
S1 |
p.
|
article
|
| 311 |
P029: Early treatment with alglucosidase alfa is associated with improved survival in patients with infantile-onset Pompe disease: Data from Pompe Registry
|
Kishnani, Priya
|
|
|
2 |
S1 |
p.
|
article
|
| 312 |
P463: EEF2-related neurodevelopmental disorder is clinically recognizable
|
Prasun, Pankaj
|
|
|
2 |
S1 |
p.
|
article
|
| 313 |
P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
|
Forghani, Irman
|
|
|
2 |
S1 |
p.
|
article
|
| 314 |
P791: Effectiveness of expanded carrier screening and prenatal ultrasound in identifying disorders among consanguineous couples
|
Rhee, Laila
|
|
|
2 |
S1 |
p.
|
article
|
| 315 |
P795: Effectiveness of expanded prenatal carrier screening among consanguineous couples of Afghan descent
|
Rhee, Laila
|
|
|
2 |
S1 |
p.
|
article
|
| 316 |
P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation
|
Carr, Nicholas
|
|
|
2 |
S1 |
p.
|
article
|
| 317 |
P048: Effects of liver-specific SHMT2 deletion on amino acid levels in mice
|
Zhai, Lidong
|
|
|
2 |
S1 |
p.
|
article
|
| 318 |
P876: Effects of social determinants of health on diagnosis of neurofibromatosis type 1 within the All of Us Research Program
|
Felker, Stephanie
|
|
|
2 |
S1 |
p.
|
article
|
| 319 |
P225: Efficacy of NGS testing for pediatric endocrine related disease
|
Alaimo, Joseph
|
|
|
2 |
S1 |
p.
|
article
|
| 320 |
P142: Efficacy, safety and tolerability of chenodeoxycholic acid in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized, placebo-controlled phase 3 study*
|
DeBarber, Andrea
|
|
|
2 |
S1 |
p.
|
article
|
| 321 |
P393: Elevated prevalence of ACMG medically actionable variants in women with Mayer-Rokitansky-Küster-Hauser syndrome
|
Theisen, John
|
|
|
2 |
S1 |
p.
|
article
|
| 322 |
P691: Elevating pharmacogenomics: A tailored in-house solution for empowering accurate clinical decision support
|
Kang, Scott
|
|
|
2 |
S1 |
p.
|
article
|
| 323 |
P864: Employees’ views and healthcare utilization following employer-sponsored pharmacogenomic testing at a large US healthcare system
|
Charnysh, Elizabeth
|
|
|
2 |
S1 |
p.
|
article
|
| 324 |
P137: Engaging participants in data sharing enables exploration of dual diagnoses*
|
Cooney, Caitlin
|
|
|
2 |
S1 |
p.
|
article
|
| 325 |
P587: Enhancing data-driven disease detection in newborns (ED3N): Designing a model to improve newborn screening risk assessment
|
Gaviglio, Amy
|
|
|
2 |
S1 |
p.
|
article
|
| 326 |
P081: Enhancing minimally invasive minimal residual disease detection of multiple myeloma using cell-free DNA whole-genome sequencing
|
Abelman, Dor
|
|
|
2 |
S1 |
p.
|
article
|
| 327 |
P528: Enhancing physician support for genetic testing in familial hypercholesterolemia with a comprehensive SmartSet
|
Kalejta, Cassidi
|
|
|
2 |
S1 |
p.
|
article
|
| 328 |
P151: Enhancing understanding of SCN1A-related disorders through phenotype harmonization*
|
Prentice, Anna
|
|
|
2 |
S1 |
p.
|
article
|
| 329 |
P491: Enrollment of a diverse population into a trial of newborn genomic sequencing: Preliminary data from the BabySeq Project
|
Christensen, Kurt
|
|
|
2 |
S1 |
p.
|
article
|
| 330 |
P429: Epidemiological assessment of autosomal recessive founder mutations in the Canadian Mennonite population
|
Prince, Bradley
|
|
|
2 |
S1 |
p.
|
article
|
| 331 |
P039: Establishing a rare registry for inherited metabolic disorders at the biochemical genetic lab in Pakistan: A decade of data
|
Jafri, Lena
|
|
|
2 |
S1 |
p.
|
article
|
| 332 |
P713: Estimating the prevalence of de novo monogenic disorders from gnomAD database
|
Amin, Mutaz
|
|
|
2 |
S1 |
p.
|
article
|
| 333 |
P568: Evaluating family-centered care in pediatric orthopedics at BC Children’s Hospital: Parents’/caregivers’ perspectives
|
Cook, Courtney
|
|
|
2 |
S1 |
p.
|
article
|
| 334 |
P826: Evaluating HLA allele-disease associations in ClinGen: Development of a new curation tool
|
Keseler, Ingrid
|
|
|
2 |
S1 |
p.
|
article
|
| 335 |
P537: Evaluating parental empowerment and satisfaction in neonatal intensive care units for families experiencing genetic testing: A mixed-methods study
|
Kim, Sunu
|
|
|
2 |
S1 |
p.
|
article
|
| 336 |
P889: Evaluating social influences on blood phenylalanine levels in phenylketonuria patients
|
Afseth, Cassandra
|
|
|
2 |
S1 |
p.
|
article
|
| 337 |
P253: Evaluating the clinical diagnostic yield of fragile X and chromosome microarray testing for patients with autism and/or intellectual disability
|
Yang, S.Y. Cindy
|
|
|
2 |
S1 |
p.
|
article
|
| 338 |
P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates*
|
Baxter, Samantha
|
|
|
2 |
S1 |
p.
|
article
|
| 339 |
P203: Evaluating the impact of Omega-3 fatty acid supplementation on lipid profiles in adults with PPARG polymorphisms: Randomized, double-blind, placebo-controlled trial
|
Pokushalov, Evgeny
|
|
|
2 |
S1 |
p.
|
article
|
| 340 |
P006: Evaluation and application of a genetic risk score for uric acid in trans-ancestry All of Us cohort*
|
Chaillet, Katharine
|
|
|
2 |
S1 |
p.
|
article
|
| 341 |
P590: Evaluation of stop-loss and frameshift variants extending translation beyond the reference stop codon detected by carrier screening
|
Flores, Shahida
|
|
|
2 |
S1 |
p.
|
article
|
| 342 |
P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study
|
Yan Liang, Nicole Si
|
|
|
2 |
S1 |
p.
|
article
|
| 343 |
P527: Evidence-based methodology for developing coordinated genetic service recommendations in Ontario
|
Peña, Luis
|
|
|
2 |
S1 |
p.
|
article
|
| 344 |
P677: Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel
|
Kelly, Melissa
|
|
|
2 |
S1 |
p.
|
article
|
| 345 |
P591: Examining likely-somatic variants in cancer susceptibility genes identified through germline multigene panel testing
|
Loranger, Kate
|
|
|
2 |
S1 |
p.
|
article
|
| 346 |
P047: Exit interviews with caregivers of pediatric patients with classic galactosemia demonstrate the meaningfulness of changes in the ACTION-Galactosemia Kids Trial
|
Bailey, Evan
|
|
|
2 |
S1 |
p.
|
article
|
| 347 |
P254: Exome sequencing as a first-tier approach for rare forms of syndromic hearing loss
|
Smith, Carson
|
|
|
2 |
S1 |
p.
|
article
|
| 348 |
P333: Exome sequencing identifies likely pathogenic variants in NF1, LMNA, and SDHC in individual with learning disability and multiple congenital anomalies
|
Cline, Melissa
|
|
|
2 |
S1 |
p.
|
article
|
| 349 |
P149: Exome sequencing vs chromosomal microarray for copy number variant detection*
|
McWalter, Kirsty
|
|
|
2 |
S1 |
p.
|
article
|
| 350 |
P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits
|
Duan, Ruizhi
|
|
|
2 |
S1 |
p.
|
article
|
| 351 |
P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency
|
Walimbe, Ameya
|
|
|
2 |
S1 |
p.
|
article
|
| 352 |
P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder
|
Keppler-Noreuil, Kim
|
|
|
2 |
S1 |
p.
|
article
|
| 353 |
P300: Expanding the neuropsychological phenotype of KAT6B disorders: Overlapping features with KAT6A syndrome
|
Ng, Rowena
|
|
|
2 |
S1 |
p.
|
article
|
| 354 |
P460: Expanding the phenotype: Coarctation of the aorta as a novel clinical feature of Baraitser-Winter syndrome
|
Myers, Taylor
|
|
|
2 |
S1 |
p.
|
article
|
| 355 |
P275: Expanding the phenotype of AGTR1-related autosomal recessive renal tubular dysgenesis: Clinical considerations for neonatal care and genetic counseling
|
Mostafavi, Roya
|
|
|
2 |
S1 |
p.
|
article
|
| 356 |
P345: Expanding the phenotype of an ultra-rare neurodevelopmental disorder associated with NACC1
|
Moresco, Angelica
|
|
|
2 |
S1 |
p.
|
article
|
| 357 |
P319: Expanding the phenotype of EIF3F-related neurodevelopmental disorder
|
Shad, Zohra
|
|
|
2 |
S1 |
p.
|
article
|
| 358 |
P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
|
Zeiger, Jordan
|
|
|
2 |
S1 |
p.
|
article
|
| 359 |
P400: Expanding the phenotype of NAA10 related Ogden syndrome
|
Schwartz, Brooke
|
|
|
2 |
S1 |
p.
|
article
|
| 360 |
P426: Expanding the phenotype seen in SPEG-related congenital myopathy
|
Kaplan, Julie
|
|
|
2 |
S1 |
p.
|
article
|
| 361 |
P180: Expanding the phenotype spectrum of Mendelian diseases with a genotype-first approach
|
Sacoto, Maria Guillen
|
|
|
2 |
S1 |
p.
|
article
|
| 362 |
P295: Expanding the prenatal phenotype of a rare syndrome due to variants in DPH1
|
Dunn, Emily
|
|
|
2 |
S1 |
p.
|
article
|
| 363 |
P280: Expansion of TAOK1 related developmental delay phenotype
|
Johnson, Riley
|
|
|
2 |
S1 |
p.
|
article
|
| 364 |
P132: Expansion of the IRF2BPL-related disorder phenotype: Initial updates from natural history study*
|
Vanagunas, Tomas
|
|
|
2 |
S1 |
p.
|
article
|
| 365 |
P021: Expansion of the phenotype of thiamine pyrophosphokinase deficiency: A treatable cause of Leigh disease, includes severe neuronopathic disease
|
Harmon, Jennifer
|
|
|
2 |
S1 |
p.
|
article
|
| 366 |
P813: Experiences of Black pregnant people offered prenatal diagnosis in the setting of fetal anomalies: A qualitative study
|
Talati, Asha
|
|
|
2 |
S1 |
p.
|
article
|
| 367 |
P799: Experiences with an adult reproductive clinical genetics and genomics clinic: Insights and opportunities
|
Dyke, Madeline
|
|
|
2 |
S1 |
p.
|
article
|
| 368 |
P043: Experiences with VLCADD in the Old Order Amish community
|
Anderson, Rhonda
|
|
|
2 |
S1 |
p.
|
article
|
| 369 |
P472: Exploring diagnostic yield and challenges in exome sequencing in highly consanguineous Tamil Nadu cohort from South India*
|
Rajakumar, Nivedita
|
|
|
2 |
S1 |
p.
|
article
|
| 370 |
P294: Exploring episignatures as a potential diagnostic tool for diabetic embryopathy
|
Schwan, Ava
|
|
|
2 |
S1 |
p.
|
article
|
| 371 |
P565: Exploring genetic testing for rare disorders of obesity: Experience and perspectives of pediatric weight management providers
|
Roberts, Karyn
|
|
|
2 |
S1 |
p.
|
article
|
| 372 |
P213: Exploring heterogeneity among gene lists proposed for newborn sequencing
|
Minten, Thomas
|
|
|
2 |
S1 |
p.
|
article
|
| 373 |
P022: Exploring preanalytical factors impacting plasma cell-free miRNA-451 levels
|
Chandel, Dinesh
|
|
|
2 |
S1 |
p.
|
article
|
| 374 |
P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing
|
Fooks, Katharine
|
|
|
2 |
S1 |
p.
|
article
|
| 375 |
P049: Exploring the landscape of phenylketonuria education and learning needs of genetics trainees
|
Lamprecht, Kyle
|
|
|
2 |
S1 |
p.
|
article
|
| 376 |
P880: Facilitating return of genetic research results from a biobank repository: Participant uptake and utilization of digital interventions
|
Bradbury, Angela
|
|
|
2 |
S1 |
p.
|
article
|
| 377 |
P041: False positive VLCAD deficiency screening: Proposed effect of testosterone
|
McPhillips, Nicole
|
|
|
2 |
S1 |
p.
|
article
|
| 378 |
P236: Familial Russell-Silver syndrome: Hypomethylation of imprinting center 1 in two siblings
|
Engleman, Kendra
|
|
|
2 |
S1 |
p.
|
article
|
| 379 |
P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2
|
Rose, Chelsi
|
|
|
2 |
S1 |
p.
|
article
|
| 380 |
P338: Far from futile: The value of perimortem rapid exome
|
Starks, Cassandra
|
|
|
2 |
S1 |
p.
|
article
|
| 381 |
P172: Feasibility of providing genetic cancer risk information to families of patients who are deceased: Experiences of the GRACE study
|
Hunter, Jessica
|
|
|
2 |
S1 |
p.
|
article
|
| 382 |
P093: Feasibility of whole body MRI and multicancer early detection testing in people at high risk for cancer development
|
Raz, Dan
|
|
|
2 |
S1 |
p.
|
article
|
| 383 |
P878: Federal legislation related to the genetics service delivery system: 2023 trends
|
Caisse, Molly
|
|
|
2 |
S1 |
p.
|
article
|
| 384 |
P773: Fetus with Cole-Carpenter type 2 presenting with novel neonatal lethal skeletal dysplasia
|
Burrill, Natalie
|
|
|
2 |
S1 |
p.
|
article
|
| 385 |
P221: Fibrodysplasia ossificans progressiva (FOP): The patient experience
|
Shields, Alan
|
|
|
2 |
S1 |
p.
|
article
|
| 386 |
P449: Fidrisertib (IPN60130) for the treatment of fibrodysplasia ossificans progressiva: Methodology of the randomized, double-blind, placebo-controlled phase II FALKON trial
|
Karimian, Negar
|
|
|
2 |
S1 |
p.
|
article
|
| 387 |
P895: Financial resources for cancer genetic testing: A quality improvement project in a Detroit Metro Area community hospital
|
Jay, Allison
|
|
|
2 |
S1 |
p.
|
article
|
| 388 |
P606: Finding answers for clinical exome-negative patients: The University of Wisconsin Undiagnosed Disease Program
|
Meyn, Stephen
|
|
|
2 |
S1 |
p.
|
article
|
| 389 |
P092: FISH testing for cMET amplification in 627 molecularly mutational negative patients with non-small cell lung cancers: A single institution's experience
|
Liu, Jinglan
|
|
|
2 |
S1 |
p.
|
article
|
| 390 |
P673: Four cases of unbalanced (Xq28/Yq12): Autosome translocation identified by chromosomal microarray analysis
|
Krysiak, Kilannin
|
|
|
2 |
S1 |
p.
|
article
|
| 391 |
P199: Frequency of secondary findings and returning these results by self-reported race/ethnicity in SPARK
|
Barns, Sarah
|
|
|
2 |
S1 |
p.
|
article
|
| 392 |
P353: From hypoplasia to aplasia of the trigeminal nerve: A recurring feature in the diagnosis of Gomez-Lopez-Hernandez syndrome
|
Ramos, Juan
|
|
|
2 |
S1 |
p.
|
article
|
| 393 |
P238: From variant of uncertain significance to pathogenic variant: Solving an 8-year diagnostic odyssey for SGMS2-related bone fragility spectrum disorder
|
Lashinger, Kayla
|
|
|
2 |
S1 |
p.
|
article
|
| 394 |
P660: Functional analysis of X-linked dyskeratosis congenita gene (DKC1) showed altered nucleolar localization and post-translational modification
|
Sheikh, Taimoor
|
|
|
2 |
S1 |
p.
|
article
|
| 395 |
P163: Functional assessment of IGF-1 and hGH as candidate treatments for Phelan-McDermid syndrome*
|
Moffitt, Bridgette
|
|
|
2 |
S1 |
p.
|
article
|
| 396 |
P664: Functional genomic studies resolve an OTUD6B deep intronic variant causing isoform imbalance
|
Coleman, Jessica Cooley
|
|
|
2 |
S1 |
p.
|
article
|
| 397 |
P255: Gain-of-function CASR variants, a common genetic cause of non-surgical hypoparathyroidism: Findings from a sponsored genetic testing program
|
Mathew, Arun
|
|
|
2 |
S1 |
p.
|
article
|
| 398 |
P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines
|
AlMail, Ali
|
|
|
2 |
S1 |
p.
|
article
|
| 399 |
P598: Gene-disease validity assessments in pediatric movement disorders: Prospective experience and retrospective analysis of concordance with expert curated panels
|
Kotecha, Udhaya
|
|
|
2 |
S1 |
p.
|
article
|
| 400 |
P158: Generating advancements in longitudinal analysis in X&Y chromosome variations: Initial data from the multicenter GALAXY Clinical Data Registry and biorepository*
|
Howell, Susan
|
|
|
2 |
S1 |
p.
|
article
|
| 401 |
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
|
DiStefano, Marina
|
|
|
2 |
S1 |
p.
|
article
|
| 402 |
P430: Genetically-determined variants lead to neuronal hyperexcitability and clinical psychosis/catatonia: Case series
|
Muniz, Jonathan
|
|
|
2 |
S1 |
p.
|
article
|
| 403 |
P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort
|
Boettcher, Tobias
|
|
|
2 |
S1 |
p.
|
article
|
| 404 |
P654: Genetic counselor involvement increases the uptake and success of familial studies in variant re-classification for disorders of hemostasis
|
Bajguz, Dominika
|
|
|
2 |
S1 |
p.
|
article
|
| 405 |
P550: Genetic counselors’ perspectives on shifting emphasis to post-test counseling following germline genetic testing in cancer care
|
Stopfer, Jill
|
|
|
2 |
S1 |
p.
|
article
|
| 406 |
P304: Genetic diagnosis of isolated Café au Lait spots through whole exome sequencing
|
Oh, Jiyoung
|
|
|
2 |
S1 |
p.
|
article
|
| 407 |
P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel*
|
Hathaway, Julie
|
|
|
2 |
S1 |
p.
|
article
|
| 408 |
P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis
|
Brooks, Dan
|
|
|
2 |
S1 |
p.
|
article
|
| 409 |
P206: Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood
|
Ambrose, Anastasia
|
|
|
2 |
S1 |
p.
|
article
|
| 410 |
P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8
|
Abdelhamed, Zakia
|
|
|
2 |
S1 |
p.
|
article
|
| 411 |
P556: Genetic providers’ views on trauma-informed care in genetics clinics
|
Gaviglio, Amy
|
|
|
2 |
S1 |
p.
|
article
|
| 412 |
P622: Genetic results in a cohort of 489 patients with inherited myopathies
|
Gall, Kim
|
|
|
2 |
S1 |
p.
|
article
|
| 413 |
P767: Genetics of prenatally diagnosed micro/anophthalmia
|
Burrill, Natalie
|
|
|
2 |
S1 |
p.
|
article
|
| 414 |
P351: Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes
|
Shillington, Amelle
|
|
|
2 |
S1 |
p.
|
article
|
| 415 |
P010: Genetic testing is incompletely sensitive for treatable inherited metabolic disorders
|
Bick, Sarah
|
|
|
2 |
S1 |
p.
|
article
|
| 416 |
P220: Genetic testing reveals underascertainment of monogenic diabetes: An update from the Rare and Atypical DIAbetes NeTwork (RADIANT)
|
Maloney, Kristin
|
|
|
2 |
S1 |
p.
|
article
|
| 417 |
P674: Gene variant spectrum in probands with familial exudative vitreoretinopathy
|
van der Ende, Sarah
|
|
|
2 |
S1 |
p.
|
article
|
| 418 |
P828: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome
|
Burger, Pauline
|
|
|
2 |
S1 |
p.
|
article
|
| 419 |
P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases
|
Figueiral, Marta
|
|
|
2 |
S1 |
p.
|
article
|
| 420 |
P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging
|
Balciuniene, Jorune
|
|
|
2 |
S1 |
p.
|
article
|
| 421 |
P665: Genome sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of preimplantation genetic testing
|
Kanwar, Nisha
|
|
|
2 |
S1 |
p.
|
article
|
| 422 |
P726: Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing
|
Barnett, Sarah
|
|
|
2 |
S1 |
p.
|
article
|
| 423 |
P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders
|
Ramadesikan, Swetha
|
|
|
2 |
S1 |
p.
|
article
|
| 424 |
P632: Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies
|
Wei, Yuandan
|
|
|
2 |
S1 |
p.
|
article
|
| 425 |
P746: Genome wide, high-throughput, high-resolution structural variation detection at low variant allele fraction for oncology samples
|
Hastie, Alex
|
|
|
2 |
S1 |
p.
|
article
|
| 426 |
P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing*
|
Chen, Xiao
|
|
|
2 |
S1 |
p.
|
article
|
| 427 |
P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service
|
Gillespie, Meredith
|
|
|
2 |
S1 |
p.
|
article
|
| 428 |
P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape
|
Gillespie, Meredith
|
|
|
2 |
S1 |
p.
|
article
|
| 429 |
P573: Genome-wide short tandem repeat expansion screening using optical genome mapping*
|
Yu, James
|
|
|
2 |
S1 |
p.
|
article
|
| 430 |
P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene
|
Guruju, Naga
|
|
|
2 |
S1 |
p.
|
article
|
| 431 |
P156: Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation*
|
Ontiveros, Eric
|
|
|
2 |
S1 |
p.
|
article
|
| 432 |
P628: Genomic hot spots in coding regions: Identifying regions enriched for heterozygote excess variants
|
Ghaedi, Hamid
|
|
|
2 |
S1 |
p.
|
article
|
| 433 |
P263: Genotype-phenotype associations in CASK disorders: A systematic literature review and report of three cases
|
Medina-Huerta, Andrea
|
|
|
2 |
S1 |
p.
|
article
|
| 434 |
P360: Genotype-phenotype characterization of channelopathies in pediatric patients at a high-complexity hospital in Cali, Colombia, from 2015-2023
|
Sinisterra, Stiven
|
|
|
2 |
S1 |
p.
|
article
|
| 435 |
P825: GENYSIS: A novel core facility for clinical evaluation of research genomic sequence
|
Powell, Bradford
|
|
|
2 |
S1 |
p.
|
article
|
| 436 |
P282: Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12
|
Rabin, Rachel
|
|
|
2 |
S1 |
p.
|
article
|
| 437 |
P566: Global genetic health assessment project: Let's not leave anyone behind
|
Abu-El-Haija, Aya
|
|
|
2 |
S1 |
p.
|
article
|
| 438 |
P824: GREGoR: Increasing rare disease diagnosis using emerging technologies and data sharing
|
Miller, Danny
|
|
|
2 |
S1 |
p.
|
article
|
| 439 |
P395: Hallermann-Streiff syndrome: Characteristic features and diagnostic overlap
|
Cavender, Caroline
|
|
|
2 |
S1 |
p.
|
article
|
| 440 |
P077: Have we considered mosaicism? A nearly missed molecular diagnosis of von Hippel-Lindau
|
Park, Wai
|
|
|
2 |
S1 |
p.
|
article
|
| 441 |
P260: Healthcare utilization in pediatric patients with Noonan syndrome
|
Reef, Rebecca
|
|
|
2 |
S1 |
p.
|
article
|
| 442 |
P056: Heightened cerebral blood oxygenation changes during a cognitive task in Glut1 deficiency syndrome (G1D)
|
Gropman, Andrea
|
|
|
2 |
S1 |
p.
|
article
|
| 443 |
P845: HemaSure-OMXP: A non-toxic venous whole blood collection device enabling the 14-day room temperature stabilization of cell-free DNA
|
Wood, Andrew
|
|
|
2 |
S1 |
p.
|
article
|
| 444 |
P734: Hemoglobin S coinheritance with unusual clinically significant beta globin variants
|
Porter, Tavanna
|
|
|
2 |
S1 |
p.
|
article
|
| 445 |
P700: Heterozygous deletion of valine at position 2321 of RYR2 in two siblings with sudden cardiac death
|
Kao, Eric
|
|
|
2 |
S1 |
p.
|
article
|
| 446 |
P227: High carrier frequency of CYP21A2 hotspot mutations in Southern India: Underscoring the need for genetic testing in congenital adrenal hyperplasia
|
Ravichandran, Lavanya
|
|
|
2 |
S1 |
p.
|
article
|
| 447 |
P745: High-fidelity whole genome sequencing of FFPE tumor-derived nucleic acids stored at ambient temperature
|
Abbas-Aghababazadeh, Farnoosh
|
|
|
2 |
S1 |
p.
|
article
|
| 448 |
P652: High-yield diagnostic testing of FGF14 repeat expansion in cerebellar ataxia across the North American population
|
Forrest, Megan
|
|
|
2 |
S1 |
p.
|
article
|
| 449 |
P075: HMGCR expression in BCC and adjacent non-malignant skin
|
Mamivand, Ali
|
|
|
2 |
S1 |
p.
|
article
|
| 450 |
P875: Home-based call: Description of the sleep impacts on geneticists and metabolists and creation of RareCap, a workforce support innovation
|
Regier, Debra
|
|
|
2 |
S1 |
p.
|
article
|
| 451 |
P872: Hospitalization of patients with organic acidemias: Clinical characteristics and economic evaluation
|
Dulchavsky, Mark
|
|
|
2 |
S1 |
p.
|
article
|
| 452 |
P847: How clinical trial-inclusion criteria are failing phenylketonuria patients and risking exhaustion of the eligible patient population.
|
Oliver, Claire
|
|
|
2 |
S1 |
p.
|
article
|
| 453 |
P553: How do patients with hereditary cancer syndromes navigate the healthcare system? A qualitative comparative study across Canada
|
Butkowsky, Carly
|
|
|
2 |
S1 |
p.
|
article
|
| 454 |
P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations
|
Cohen, Ana S.A.
|
|
|
2 |
S1 |
p.
|
article
|
| 455 |
P862: How to conduct equitable genetics research to include underserved populations: A systematic review of best practices
|
Aguda, Vernie
|
|
|
2 |
S1 |
p.
|
article
|
| 456 |
P184: Hypermobility clinic: Innovative workflow supporting patients and provider wellness
|
Chapman, Kimberly
|
|
|
2 |
S1 |
p.
|
article
|
| 457 |
P494: Hypermobility EDS: Successful implementation of a referral screening program
|
Vengoechea, Jaime
|
|
|
2 |
S1 |
p.
|
article
|
| 458 |
P684: Identification and functional characterization of novel and ultra-rare MC1R variants in Indian population
|
Kashyap, Deepak
|
|
|
2 |
S1 |
p.
|
article
|
| 459 |
P692: Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8
|
Gagnon, Maryse
|
|
|
2 |
S1 |
p.
|
article
|
| 460 |
P699: Identification of a novel pathogenic variant in SERPINH1 associated with a presentation of osteogenesis imperfecta: Case study
|
Zvereff, Val
|
|
|
2 |
S1 |
p.
|
article
|
| 461 |
P115: Identification of a novel SDHB c.638T>G, p.M213R likely pathogenic variant accountable for hereditary paraganglioma-pheochromocytoma syndrome: A case report
|
Liu, Yi
|
|
|
2 |
S1 |
p.
|
article
|
| 462 |
P402: Identification of de novo DNM1L mutation in Korean infancy presenting with failure to thrive, dicarboxylic aciduria and lactic acidosis
|
Kim, Yoo-Mi
|
|
|
2 |
S1 |
p.
|
article
|
| 463 |
P268: Identification of genes and pathways with varied expression using publicly accessible RNA-sequencing data from nasal swabs of COVID-19 patients
|
Sadoon Sadoon, Suhair Saad
|
|
|
2 |
S1 |
p.
|
article
|
| 464 |
P729: Identification of multiple diagnoses in pediatric patients through genome sequencing
|
Collins, Christin
|
|
|
2 |
S1 |
p.
|
article
|
| 465 |
P109: Identification of new fusion partners for ETV6 gene in hematologic malignancy by next generation sequencing (NGS)
|
Aslam, Sumayya
|
|
|
2 |
S1 |
p.
|
article
|
| 466 |
P078: Identification of novel germline mutations and copy-number variations in patients with small cell lung cancer
|
Haq, Sami Ul
|
|
|
2 |
S1 |
p.
|
article
|
| 467 |
P607: Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy
|
Olifir, Oleksandr
|
|
|
2 |
S1 |
p.
|
article
|
| 468 |
P723: Identification of remarkable Y chromosome structural abnormalities and their link with various clinical presentations
|
Miller, Eric
|
|
|
2 |
S1 |
p.
|
article
|
| 469 |
P610: Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing
|
Guidugli, Lucia
|
|
|
2 |
S1 |
p.
|
article
|
| 470 |
P036: Identifying inherited genetic markers associated with insomnia in women with polycystic ovary syndrome (PCOS)
|
Moorthy, Janani Dakshina
|
|
|
2 |
S1 |
p.
|
article
|
| 471 |
P873: “If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings
|
Hansen, Abigail
|
|
|
2 |
S1 |
p.
|
article
|
| 472 |
P215: Impact of electronic health record clinical decision support on adherence to recommended care in patients with hereditary cancer risk
|
Savatt, Juliann
|
|
|
2 |
S1 |
p.
|
article
|
| 473 |
P070: Impact of genetic test result recall on adherence to cancer risk management recommendations
|
Bharwani, Karishma Prakash
|
|
|
2 |
S1 |
p.
|
article
|
| 474 |
P760: Impact of prenatal genetic diagnosis on pregnancy termination: Experience from a single center*
|
Smith, Carly
|
|
|
2 |
S1 |
p.
|
article
|
| 475 |
P794: Impact of the COVID-19 pandemic on prenatal genetic screening test acceptance in Western North Carolina
|
Enayet, Nafiah
|
|
|
2 |
S1 |
p.
|
article
|
| 476 |
P488: Implementation strategies to improve access to genetic services in a low-resources setting: Experience in Chile’s Valparaíso region
|
Nakousi-Capurro, Nicole
|
|
|
2 |
S1 |
p.
|
article
|
| 477 |
P557: Implementing genomics-informed risk assessment for common complex diseases: A qualitative case study in an academic health system
|
Chen, Jingheng
|
|
|
2 |
S1 |
p.
|
article
|
| 478 |
P076: Implementing tumor-first genetic testing and parent-of-origin-aware genomic analysis into the diagnostic pipeline for hereditary breast cancer
|
Huang, Haojun
|
|
|
2 |
S1 |
p.
|
article
|
| 479 |
P656: Improved diagnostic paradigm using optical genome mapping (OGM) for cytogenomic testing for recurrent pregnancy loss and infertility
|
Crocker, Susan
|
|
|
2 |
S1 |
p.
|
article
|
| 480 |
P706: Improved interpretation of PHOX2B missense variants for diagnosis of congenital central hypoventilation syndrome (CCHS) using in silico prediction algorithms
|
Drackley, Andy
|
|
|
2 |
S1 |
p.
|
article
|
| 481 |
P844: Improvement of structural variant filtering using racial-specific reference genomes
|
Jessen, Erik
|
|
|
2 |
S1 |
p.
|
article
|
| 482 |
P612: Improvement of variant reclassification in genetic neurodevelopmental conditions: Simons Searchlight research registry
|
Kowanda, Michelle
|
|
|
2 |
S1 |
p.
|
article
|
| 483 |
P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases
|
Vuocolo, Blake
|
|
|
2 |
S1 |
p.
|
article
|
| 484 |
P490: Improving access to genetics care through the use of eVisits
|
Lyons, Michael
|
|
|
2 |
S1 |
p.
|
article
|
| 485 |
P609: Improving genome diagnostics of hemiplegic migraine
|
Al-Fayyadh, Mohammed
|
|
|
2 |
S1 |
p.
|
article
|
| 486 |
P558: Improving patient care for recurrent pregnancy loss patients via a multidisciplinary relationship between OBGYN and Northwell Labs across Northwell Health
|
Cohen, Ninette
|
|
|
2 |
S1 |
p.
|
article
|
| 487 |
P780: Improving peripartum health is an unappreciated advantage of prenatal genome sequencing
|
Giordano, Jessica
|
|
|
2 |
S1 |
p.
|
article
|
| 488 |
P484: Improving the capacity of the clinical genetics workforce through an implementation science lens
|
Scheuner, Maren
|
|
|
2 |
S1 |
p.
|
article
|
| 489 |
P771: Incidental detection of maternal cancer in prenatal cell-free DNA screening: Clinical laboratory experience and reporting of multiple structural variants
|
Liao, Franchesca
|
|
|
2 |
S1 |
p.
|
article
|
| 490 |
P082: Increased risk of hematolymphoid neoplasms in individuals with heterozygous deletion of a Fanconi anemia gene
|
Sheikh, Taimoor
|
|
|
2 |
S1 |
p.
|
article
|
| 491 |
P487: Increasing access to precise genetic diagnoses for inpatients at Seattle Children’s Hospital
|
Scott, Abbey
|
|
|
2 |
S1 |
p.
|
article
|
| 492 |
P061: Inherited genetic markers for temporomandibular disorder (TMD) pain in polycystic ovary syndrome: Identifying novel therapeutic targets
|
Moorthy, Janani Dakshina
|
|
|
2 |
S1 |
p.
|
article
|
| 493 |
P567: Innovations in education: Empowering child neurology residents with basic concepts in genomic testing through a national curriculum
|
Sen, Kuntal
|
|
|
2 |
S1 |
p.
|
article
|
| 494 |
P193: Inpatient genetics consults for nondysmorphic children: Characteristics, testing patterns and diagnostic yield
|
Keefe, Alexandra
|
|
|
2 |
S1 |
p.
|
article
|
| 495 |
P823: Insights and strategies for inclusive adolescent and young adult participation in genetics research
|
Wainstein, Tasha
|
|
|
2 |
S1 |
p.
|
article
|
| 496 |
P009: Insights from Georgia: Evaluating the outcomes of Pompe disease newborn screening*
|
Aljaberi, Rana
|
|
|
2 |
S1 |
p.
|
article
|
| 497 |
P208: Insights into diagnostic yield and novel genetic etiologies for unilateral polymicrogyria
|
Lai, Abbe
|
|
|
2 |
S1 |
p.
|
article
|
| 498 |
P198: Insights into the cardiac phenotype in Kabuki syndrome
|
Khalife, Leen
|
|
|
2 |
S1 |
p.
|
article
|
| 499 |
P526: Insurance access to genetic testing: Experiences in the Midwest
|
Hall, April
|
|
|
2 |
S1 |
p.
|
article
|
| 500 |
P546: Integrating exome sequencing into a pediatric endocrinology clinic: A genetics and endocrinology collaborative quality improvement initiative
|
Hejla, Duha
|
|
|
2 |
S1 |
p.
|
article
|
| 501 |
P160: Integration of multidisciplinary inclusion and exclusion criteria and workflow improves access to inpatient rGS and changes policies: Cleveland Clinic example*
|
Alsadah, Adnan
|
|
|
2 |
S1 |
p.
|
article
|
| 502 |
P690: Integration of protein stability and structural context scores improves bioinformatics predictions for BRCA1 and TP53 gene variants
|
Rotenberg, Nitsan
|
|
|
2 |
S1 |
p.
|
article
|
| 503 |
P539: International policies guiding the identification, analysis, and management of secondary findings from genomic sequencing: Results from a systematic review
|
Majeed, Safa
|
|
|
2 |
S1 |
p.
|
article
|
| 504 |
P675: Interrogating the source: An investigation of the impact of founder variants on residual risk in carrier screening
|
Judkins, Megan
|
|
|
2 |
S1 |
p.
|
article
|
| 505 |
P299: Intersex/differences of sex development (I/DSD) traits: Exploring their association with 15% of phenotypically detailed genetic disorders
|
Ragno, Leah
|
|
|
2 |
S1 |
p.
|
article
|
| 506 |
P195: Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia
|
Cuillerier, Alexanne
|
|
|
2 |
S1 |
p.
|
article
|
| 507 |
P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
|
Groopman, Emily
|
|
|
2 |
S1 |
p.
|
article
|
| 508 |
P318: Ironing out the BPAN phenotypic spectrum: A report of three new BPAN cases and review of the literature
|
Goedhart, Caitlin
|
|
|
2 |
S1 |
p.
|
article
|
| 509 |
P617: Is it time to switch to AlphaMissense for in silico missense predictions?
|
Mohan, Shruthi
|
|
|
2 |
S1 |
p.
|
article
|
| 510 |
P849: iSWAB-DNA: A long-term buccal sample collection device that preserves high-quality DNA at room temperature and challenges transportation conditions.
|
Lam, Vy
|
|
|
2 |
S1 |
p.
|
article
|
| 511 |
P752: It's about time: How key genes linked with post-traumatic stress disorder evolve
|
Pecon-Slattery, Jill
|
|
|
2 |
S1 |
p.
|
article
|
| 512 |
P867: “I worry I don’t have control”: The psychosocial impacts of living with a hereditary cancer syndrome
|
Sam, Jordan
|
|
|
2 |
S1 |
p.
|
article
|
| 513 |
P340: Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent
|
Perry, Gabriella
|
|
|
2 |
S1 |
p.
|
article
|
| 514 |
P661: JAK2 exon 12-15, CALR and MPL essential MPN NGS panel
|
Cai, Li
|
|
|
2 |
S1 |
p.
|
article
|
| 515 |
P666: Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome
|
Meybodi, Anahita Mohseni
|
|
|
2 |
S1 |
p.
|
article
|
| 516 |
P389: Kagami-Ogata syndrome: The indispensable role of clinical assessment and utilization of advanced molecular technologies
|
Jensen, Nathaniel
|
|
|
2 |
S1 |
p.
|
article
|
| 517 |
P366: Kidney cysts: Potential underrecognized phenotype of Coffin-Siris syndrome
|
Wakim, Victor
|
|
|
2 |
S1 |
p.
|
article
|
| 518 |
P886: Knowledge, attitudes, and perceptions of pharmacogenomics among low-income residents of central Indiana
|
Cooper, Joseph
|
|
|
2 |
S1 |
p.
|
article
|
| 519 |
P639: Large-scale genome reanalysis of 159 individuals affected by undiagnosed genetic diseases from the Stanford Center for Undiagnosed Diseases
|
Mendez, Hector
|
|
|
2 |
S1 |
p.
|
article
|
| 520 |
P059: Late onset lipid storage myopathy caused by synergistic heterozygosity in ETFDH and TYMP genes
|
Fu, Xiaowei
|
|
|
2 |
S1 |
p.
|
article
|
| 521 |
P031: Late onset Pompe disease diagnoses missed by standard newborn screening procedure: The Indiana experience
|
Sapp, Katie
|
|
|
2 |
S1 |
p.
|
article
|
| 522 |
P383: Leptomeningeal cavernomatosis and non-hemorrhagic lacunar strokes: An unusual phenotype for familial cerebral cavernous malformations
|
Ebrahim, Anusha
|
|
|
2 |
S1 |
p.
|
article
|
| 523 |
P341: Less than one in a million: Double homozygosity for F2 and F5
|
Wetzel, Alyssa
|
|
|
2 |
S1 |
p.
|
article
|
| 524 |
P296: Leveraging electronic health records (EHR) to identify patients with rare disease: An atypical case of aromatic L-amino acid decarboxylase deficiency
|
Shuey, Megan
|
|
|
2 |
S1 |
p.
|
article
|
| 525 |
P894: Limitations in access to genetic counseling training programs across the globe
|
Meyer, Sophia
|
|
|
2 |
S1 |
p.
|
article
|
| 526 |
P178: Longitudinal neurodevelopmental and medical outcomes in patients with molecularly confirmed RASopathies
|
Rippert, Alyssa
|
|
|
2 |
S1 |
p.
|
article
|
| 527 |
P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants
|
Devaney, Joseph
|
|
|
2 |
S1 |
p.
|
article
|
| 528 |
P635: Long read sequencing for the analysis of repeat expansion disorders
|
Berlyoung, April
|
|
|
2 |
S1 |
p.
|
article
|
| 529 |
P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia*
|
Délot, Emmanuèle
|
|
|
2 |
S1 |
p.
|
article
|
| 530 |
P506: Long-term results and challenges of newborn screening for classic homocystinuria in New York State
|
Xiao, Jing
|
|
|
2 |
S1 |
p.
|
article
|
| 531 |
P205: Loss-of-function pathogenic variants in RBM42 cause a neurodevelopmental disorder by modulating RNA processing
|
Yang, Bingxin
|
|
|
2 |
S1 |
p.
|
article
|
| 532 |
P342: Loss of function variants in ACTN2 in pediatric patients with infantile-onset dilated cardiomyopathy
|
Zahavich, Laura
|
|
|
2 |
S1 |
p.
|
article
|
| 533 |
P770: Low fetal fraction and low PAPP-A: One and the same?
|
Strauss, Tirtza Spiegel
|
|
|
2 |
S1 |
p.
|
article
|
| 534 |
P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases
|
Yang, Jun
|
|
|
2 |
S1 |
p.
|
article
|
| 535 |
P615: Low rate of clinical follow-up for potential germline variants identified in hematologic malignancies with a next generation sequencing panel
|
Wollenzien, Hannah
|
|
|
2 |
S1 |
p.
|
article
|
| 536 |
P636: Lp(a) genetic risk screening using genome sequencing
|
Strom, Samuel
|
|
|
2 |
S1 |
p.
|
article
|
| 537 |
P476: Marfan syndrome evaluation: Improving access through an alternative care delivery model*
|
Weaver, Nicole
|
|
|
2 |
S1 |
p.
|
article
|
| 538 |
P775: Maternally inherited 11p15 duplication involving only part of the ICR1 H19/IGF2 domain: Unraveling mild Russell-Silver syndrome phenotype
|
Thomas-Wilson, Amanda
|
|
|
2 |
S1 |
p.
|
article
|
| 539 |
P857: Medical genetics and genomics residents’ perceptions of their gaps in knowledge regarding the clinical intersections of race and racism*
|
Gomez-Stafford, Justin
|
|
|
2 |
S1 |
p.
|
article
|
| 540 |
P525: Medical genetics providers require training and institutional support to integrate pharmacogenomic testing
|
Imbrie, John
|
|
|
2 |
S1 |
p.
|
article
|
| 541 |
P508: Medically-actionable disease risk variants in a diverse population
|
Kelley, Whitley
|
|
|
2 |
S1 |
p.
|
article
|
| 542 |
P533: Meeting the increasing need for inpatient genetics services: Experience at Texas Children’s Hospital
|
Mizerik, Elizabeth
|
|
|
2 |
S1 |
p.
|
article
|
| 543 |
P166: MEK inhibitor therapy for lymphatic malformations: A focused approach in patients with RASopathies*
|
Taliercio, Vanina
|
|
|
2 |
S1 |
p.
|
article
|
| 544 |
P561: Mental health in Fabry disease: Results from a North American survey of 401 participants
|
Laney, Dawn
|
|
|
2 |
S1 |
p.
|
article
|
| 545 |
P035: Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1
|
Ehmsen, Jeffrey
|
|
|
2 |
S1 |
p.
|
article
|
| 546 |
P455: Milder symptom presentation of de novo NARS1 pathogenic variant: A case report
|
Guo, Teri
|
|
|
2 |
S1 |
p.
|
article
|
| 547 |
P785: Milroy disease presenting as hydrops fetalis: A case series
|
Crane, Haley
|
|
|
2 |
S1 |
p.
|
article
|
| 548 |
P387: Missense variants in SRCAP: Expansion of phenotypic manifestations associated with non-FHLS SRCAP-related neurodevelopmental disorder
|
Huckestein, Victoria
|
|
|
2 |
S1 |
p.
|
article
|
| 549 |
P055: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency presenting with involuntary choreiform movements and dystonia
|
Osundiji, Mayowa
|
|
|
2 |
S1 |
p.
|
article
|
| 550 |
P212: Modifiers of arterial stenosis in Williams syndrome: Using genomics to discover drivers of vessel-specific outcomes
|
Golbus, Ashley
|
|
|
2 |
S1 |
p.
|
article
|
| 551 |
P228: Molecular and clinical analyses of LRP1 and LRP2 variants in human congenital cardiac left-sided lesions
|
Chen, Xin
|
|
|
2 |
S1 |
p.
|
article
|
| 552 |
P094: Molecular genetic biomarker analysis in brain tumors: Clinical and histopathological correlation of brain tumors with deletion of CDKN2A (9p21)
|
Subramaniyam, Shivakumar
|
|
|
2 |
S1 |
p.
|
article
|
| 553 |
P105: Molecular genetic biomarkers: Chromosome 1 and 19 abnormalities in glioblastoma are associated with adverse molecular features and overall reduced survival
|
Weng, Katherine
|
|
|
2 |
S1 |
p.
|
article
|
| 554 |
P725: Molecular profile and associated prognosis in systemic mastocytosis with an associated hematologic neoplasm: A case report
|
Fang, Xiaolan
|
|
|
2 |
S1 |
p.
|
article
|
| 555 |
P756: Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review
|
Youssefian, Leila
|
|
|
2 |
S1 |
p.
|
article
|
| 556 |
P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome
|
Catena, Sofia
|
|
|
2 |
S1 |
p.
|
article
|
| 557 |
P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome
|
Vossaert, Liesbeth
|
|
|
2 |
S1 |
p.
|
article
|
| 558 |
P226: Mosaic autosomal trisomies: A karyotype can still provide the answer in cases of multiple congenital anomalies
|
Sullivan, Bonnie
|
|
|
2 |
S1 |
p.
|
article
|
| 559 |
P364: Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype
|
Lenahan, Arthur
|
|
|
2 |
S1 |
p.
|
article
|
| 560 |
P361: Mosaic Costello syndrome presenting with striking intermixed patches of scalp hair and linear epidermal nevi
|
Demmer, Laurie
|
|
|
2 |
S1 |
p.
|
article
|
| 561 |
P288: Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies
|
Gilmartin, Allissia
|
|
|
2 |
S1 |
p.
|
article
|
| 562 |
P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay
|
Bi, Xin
|
|
|
2 |
S1 |
p.
|
article
|
| 563 |
P239: Mosaic trisomy 17 and tetraploidy: A case report
|
Ryder, Zach
|
|
|
2 |
S1 |
p.
|
article
|
| 564 |
P653: Mosaic X-ring chromosomes (45,X/46,X,r(X)) in Turner syndrome (TS): A case series highlighting 42 years of experience in a single-institution
|
Madison, Anita
|
|
|
2 |
S1 |
p.
|
article
|
| 565 |
P854: Motivations for cascade genetic testing and reactions to results for select adult-onset conditions in a pediatric genomic results study*
|
Evans, Alyson
|
|
|
2 |
S1 |
p.
|
article
|
| 566 |
P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases
|
Saei, Hassan
|
|
|
2 |
S1 |
p.
|
article
|
| 567 |
P256: Mucolipidosis typs II: Data from northern referral pediatric center in Vietnam
|
Can, Ngoc
|
|
|
2 |
S1 |
p.
|
article
|
| 568 |
P365: Muenke syndrome associated with juvenile polyposis syndrome
|
Iglesias, Anais
|
|
|
2 |
S1 |
p.
|
article
|
| 569 |
P406: Multidisciplinary cooperation for perinatal management following the genetic diagnosis of ATP1A3-related neurological disorder
|
Mariya, Tasuku
|
|
|
2 |
S1 |
p.
|
article
|
| 570 |
P117: Multi-locus inherited neoplasia allele syndrome (MINAS) prevalence in Northern Mexican population: Multicentric study
|
Aguilar, Dione
|
|
|
2 |
S1 |
p.
|
article
|
| 571 |
P630: Multi-modal testing, including long-read sequencing, to elucidate an unsolved case of dyskeratosis congenita
|
Jhuraney, Ankita
|
|
|
2 |
S1 |
p.
|
article
|
| 572 |
P331: Multiomic approach to diagnosis: A case study in the Undiagnosed Diseases Program
|
Crowell, Anna
|
|
|
2 |
S1 |
p.
|
article
|
| 573 |
P014: Multiple cases of mosaic X-linked adrenoleukodystrophy in males identified through newborn screening
|
Keefe, Alexandra
|
|
|
2 |
S1 |
p.
|
article
|
| 574 |
P812: Multiple fetal anomalies suggest a role for CDK20 in human ciliopathies
|
Chong, Karen
|
|
|
2 |
S1 |
p.
|
article
|
| 575 |
P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform
|
Fuligni, Fabio
|
|
|
2 |
S1 |
p.
|
article
|
| 576 |
P817: Multivariate symptom modeling and automated phenotype expansion doubles the penetrance of loss-of-function variants in a population-scale cohort*
|
Blair, David
|
|
|
2 |
S1 |
p.
|
article
|
| 577 |
P108: Myelodysplastic syndrome (MDS) detected by germline genetic testing for hereditary cancer
|
Peck, Larissa
|
|
|
2 |
S1 |
p.
|
article
|
| 578 |
P121: Myeloid neoplasms with the t(3;12)(q26.2;p13)/MECOM-ETV6 translocation: Report of two new cases and review of the literature
|
Mikkilineni, Soumya
|
|
|
2 |
S1 |
p.
|
article
|
| 579 |
P650: Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older?
|
Powis, Zoe
|
|
|
2 |
S1 |
p.
|
article
|
| 580 |
P822: Navigating genetic risk: Mapping variant's probability of occurring de novo and inferring their effect sizes on neurodevelopmental symptoms
|
England, Jade
|
|
|
2 |
S1 |
p.
|
article
|
| 581 |
P485: Navigating the genetic odyssey: Enhancing early recognition and referral for precise diagnosis through human phenotype analysis
|
Wilke, Matheus
|
|
|
2 |
S1 |
p.
|
article
|
| 582 |
P019: Navigating the landscape of newborn screening for inborn errors of metabolism in Saudi Arabia: Challenges, achievements, and future prospects
|
Khoja, Ibrahim
|
|
|
2 |
S1 |
p.
|
article
|
| 583 |
P310: NCOR2 is candidate gene for neurodevelopmental disorder including autism
|
Prasun, Pankaj
|
|
|
2 |
S1 |
p.
|
article
|
| 584 |
P290: Neonatal encephalopathy: Identification of underlying genetic causes
|
Ambrose, Anastasia
|
|
|
2 |
S1 |
p.
|
article
|
| 585 |
P466: Neurodevelopmental diagnoses in oculocutaneous albinism type II
|
Procopio, Rebecca
|
|
|
2 |
S1 |
p.
|
article
|
| 586 |
P134: Neuronal pathways by differential tractography correlate with clinical outcomes following gene therapy for GM1 gangliosidosis: New biomarker for neurodegenerative diseases*
|
Lewis, Connor
|
|
|
2 |
S1 |
p.
|
article
|
| 587 |
P671: New artificial intelligence-based computer-aided chromosome analysis and karyotyping: A pilot evaluation
|
Taghiyev, Agshin
|
|
|
2 |
S1 |
p.
|
article
|
| 588 |
P507: Newborn genomic sequencing for Duchenne muscular dystrophy: Model-based insights
|
Smith, Hadley
|
|
|
2 |
S1 |
p.
|
article
|
| 589 |
P861: Newborn screening for Pompe disease in South Florida: The clinical experience
|
McGonigle, William
|
|
|
2 |
S1 |
p.
|
article
|
| 590 |
P536: Newborn screening using CK-MM: Preferences of newborn screening professionals after an initial positive screen for Duchenne muscular dystrophy
|
Peay, Holly
|
|
|
2 |
S1 |
p.
|
article
|
| 591 |
P569: NextGen training of medical professionals for evolving genomic interventions
|
Saenz, Margarita
|
|
|
2 |
S1 |
p.
|
article
|
| 592 |
P229: Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter
|
Swanson, Elliott
|
|
|
2 |
S1 |
p.
|
article
|
| 593 |
P800: Non-mosaic trisomy 9: Prenatal and fetal autopsy findings with further delineation of the clinical phenotype
|
Elias, Abdallah
|
|
|
2 |
S1 |
p.
|
article
|
| 594 |
P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing
|
Dupuis, Lucie
|
|
|
2 |
S1 |
p.
|
article
|
| 595 |
P787: Not through with 22q: Case series of false negative cfDNA results and the importance of a priori risk on NPV
|
Madison, Anita
|
|
|
2 |
S1 |
p.
|
article
|
| 596 |
P433: Novel and very rare causative variants in the transglutaminase-1 gene of Vietnamese patients with lamellar ichthyosis
|
Lan Anh, Luong Thi
|
|
|
2 |
S1 |
p.
|
article
|
| 597 |
P272: Novel biallelic missense variants in C2orf69 cause combined oxidative phosphorylation deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation
|
Oh, Youjin
|
|
|
2 |
S1 |
p.
|
article
|
| 598 |
P693: Novel combined molecular diagnosis of rare digynic triploidy in preterm neonates
|
Yang, Chen
|
|
|
2 |
S1 |
p.
|
article
|
| 599 |
P367: Novel CYP19A1 variant in a male with overgrowth, unilateral foot drop, and nephrolithiasis: Expansion of clinical features in aromatase deficiency
|
Alsadah, Adnan
|
|
|
2 |
S1 |
p.
|
article
|
| 600 |
P422: Novel familial variants in the TDGS gene associated with Catel-Manske syndrome and distinct phenotypes between male siblings
|
Fyke, William
|
|
|
2 |
S1 |
p.
|
article
|
| 601 |
P349: Novel genetic factors regulating human spermatogenesis
|
Nawaz, Shoaib
|
|
|
2 |
S1 |
p.
|
article
|
| 602 |
P120: Novel genomic rearrangement leading to MYC over expression in the genomic setting of a pseudo-triple-hit diffuse large B-cell lymphoma
|
Koduru, Ramakrishna
|
|
|
2 |
S1 |
p.
|
article
|
| 603 |
P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification
|
Stafford, David
|
|
|
2 |
S1 |
p.
|
article
|
| 604 |
P747: Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks
|
Strosahl, Jessica
|
|
|
2 |
S1 |
p.
|
article
|
| 605 |
P789: Novel markers of pyruvate dehydrogenase complex deficiency on fetal brain MRI
|
Lawrence, Anne
|
|
|
2 |
S1 |
p.
|
article
|
| 606 |
P368: Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association
|
Chávez-Pasco, Giulliana
|
|
|
2 |
S1 |
p.
|
article
|
| 607 |
P738: Novel PIGA-related disorder gene variant: Whole exome sequencing, postmortem sample analysis, and updated variant classification solves 20+ year diagnostic odyssey
|
Parra, Ourania
|
|
|
2 |
S1 |
p.
|
article
|
| 608 |
P313: Novel presentation of Costello syndrome with urinary tract involvement In early infancy
|
McLeod, Aniah
|
|
|
2 |
S1 |
p.
|
article
|
| 609 |
P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly
|
Thornton, Casey
|
|
|
2 |
S1 |
p.
|
article
|
| 610 |
P444: Novel RET variant in two unrelated patients with Hirschsprung disease and congenital anomalies of kidney and urinary tract
|
Turedi, Ozlem
|
|
|
2 |
S1 |
p.
|
article
|
| 611 |
P420: Novel SLC26A2 variants in two adults with autosomal recessive multiple epiphyseal dysplasia type 4: Informed by genotype-phenotype correlation
|
Patterson, Amy
|
|
|
2 |
S1 |
p.
|
article
|
| 612 |
P848: Novel structural variant in PDGFB-associated with ectopic intracerebral calcifications
|
D'Onofrio, David
|
|
|
2 |
S1 |
p.
|
article
|
| 613 |
P755: Novel SYCP2 variants in Chinese patients further define the relationship between SYCP2 and autosomal dominant oligoasthenozoospermia
|
Zhang, Junyu
|
|
|
2 |
S1 |
p.
|
article
|
| 614 |
P464: Novel variant in WARS2 gene: Clinical evaluation and genotype-phenotype of a Parkinsonism neurodevelopmental disorder
|
Carrion, Teresa
|
|
|
2 |
S1 |
p.
|
article
|
| 615 |
P456: Novel variant of unknown significance in RYR2 in a patient with suspected catecholaminergic polymorphic ventricular tachycardia: A case to reclassify
|
Gruber, Dorota
|
|
|
2 |
S1 |
p.
|
article
|
| 616 |
P315: Novel variants in the CACNA1B gene: A case presentation of neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
|
Wolfenson, Zoe
|
|
|
2 |
S1 |
p.
|
article
|
| 617 |
P324: Ocular findings as the most striking manifestation of a SMAD3 variant
|
Villeneuve-Cloutier, Noémie
|
|
|
2 |
S1 |
p.
|
article
|
| 618 |
P245: Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations
|
Niyazov, Dmitriy
|
|
|
2 |
S1 |
p.
|
article
|
| 619 |
P191: Old school and new findings: Expansion and delineation of the dysmorphological phenotype of Fanconi anemia
|
Fiesco-Roa, Moises
|
|
|
2 |
S1 |
p.
|
article
|
| 620 |
P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel
|
Ritter, Deborah
|
|
|
2 |
S1 |
p.
|
article
|
| 621 |
P608: Optical genome mapping for genome-wide structural variation analysis in hematologic malignancies: Prospective study to determine impact on diagnosis and management
|
Sahoo, Trilochan
|
|
|
2 |
S1 |
p.
|
article
|
| 622 |
P772: Optimal amniotic fluid volume required for direct chromosomal microarray analysis
|
Ibrahim, Lina
|
|
|
2 |
S1 |
p.
|
article
|
| 623 |
P858: Optimism and pessimism about genome sequencing in pediatric health care: Preliminary findings in the BabySeq Project*
|
Smith, Hadley
|
|
|
2 |
S1 |
p.
|
article
|
| 624 |
P492: Optimizing access to genetics services for individuals with autism spectrum disorder through a “genetic-counselor-first” assessment model
|
Babul-Hirji, Riyana
|
|
|
2 |
S1 |
p.
|
article
|
| 625 |
P500: Optimizing consent: An analysis of recruitment data for the first 11,000 consented ScreenPlus parents
|
Kelly, Nicole
|
|
|
2 |
S1 |
p.
|
article
|
| 626 |
P618: Optimizing diagnostic potential: Impact of familial sample configurations on exome sequencing
|
Towne, Meghan
|
|
|
2 |
S1 |
p.
|
article
|
| 627 |
P852: Optimizing RNA extraction methods for high throughput transcriptome sequencing from FFPE cardiac tissue
|
Odogwu, Nkechi
|
|
|
2 |
S1 |
p.
|
article
|
| 628 |
P001: Outcomes In 14 live births resulting from pegvaliase-treated pregnancies in females with PKU*
|
Bier, Caide
|
|
|
2 |
S1 |
p.
|
article
|
| 629 |
P356: Overlapping movement disorder phenotypes are a hallmark of leukoencephalopathy with calcifications and cysts
|
Tochen, Laura
|
|
|
2 |
S1 |
p.
|
article
|
| 630 |
P385: PACS2-related developmental and epileptic encephalopathy: A review of molecular mechanisms and clinical aspects of a rare genetic disorder
|
Parashar, Kanika
|
|
|
2 |
S1 |
p.
|
article
|
| 631 |
P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes*
|
Tung, Moon Ley
|
|
|
2 |
S1 |
p.
|
article
|
| 632 |
P874: Parental perspectives and experiences on the implications of expanded and universal newborn screening
|
Paleologos, Katrina
|
|
|
2 |
S1 |
p.
|
article
|
| 633 |
P480: Parent and healthcare personnel perspectives on challenges to family-centered care for children with inherited metabolic diseases: A qualitative analysis
|
Chow, Andrea
|
|
|
2 |
S1 |
p.
|
article
|
| 634 |
P301: Pathogenic NOTCH1 variation displays a spectrum of cardiac and extra-cardiac anomalies
|
Alaimo, Joseph
|
|
|
2 |
S1 |
p.
|
article
|
| 635 |
P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly
|
Owen, Nichole
|
|
|
2 |
S1 |
p.
|
article
|
| 636 |
P517: Patient and clinician perspectives on a digital health platform for the longitudinal management of genetic cancer predisposition
|
Rana, Huma
|
|
|
2 |
S1 |
p.
|
article
|
| 637 |
P457: Patient with galactosemia and primary ovarian insufficiency undergoes IVF with oocyte retrieval prior to conceiving spontaneously
|
Helgeson, Jennifer
|
|
|
2 |
S1 |
p.
|
article
|
| 638 |
P600: pb-StarPhase: A phase-aware pharmacogenomic diplotyper for long-read sequencing data
|
Holt, James
|
|
|
2 |
S1 |
p.
|
article
|
| 639 |
P489: Pediatric exome sequencing compared with standard genetic testing: An analysis of private payer claims data
|
Smith, Hadley
|
|
|
2 |
S1 |
p.
|
article
|
| 640 |
P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial
|
Ficicioglu, Can
|
|
|
2 |
S1 |
p.
|
article
|
| 641 |
P856: Perceptions of family health history in an East Baltimore community*
|
Pandya, Yasheel
|
|
|
2 |
S1 |
p.
|
article
|
| 642 |
P624: Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru
|
Thorpe, Erin
|
|
|
2 |
S1 |
p.
|
article
|
| 643 |
P655: Performing long-read sequencing from dried blood spot cards
|
Ward, Sydney
|
|
|
2 |
S1 |
p.
|
article
|
| 644 |
P688: Performing NGS testing for myeloid malignancies in an academic medical center improves turnaround time and cost
|
Giauque, Christopher
|
|
|
2 |
S1 |
p.
|
article
|
| 645 |
P144: Persistence of growth-promoting effects in children with achondroplasia up to 7 years: Update from phase 2 extension study with vosoritide*
|
Hoover-Fong, Julie
|
|
|
2 |
S1 |
p.
|
article
|
| 646 |
P131: Persistence of growth-promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide*
|
Savarirayan, Ravi
|
|
|
2 |
S1 |
p.
|
article
|
| 647 |
P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study*
|
Savarirayan, Ravi
|
|
|
2 |
S1 |
p.
|
article
|
| 648 |
P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life*
|
Savarirayan, Ravi
|
|
|
2 |
S1 |
p.
|
article
|
| 649 |
P522: Personalized prescriptions: Potential clinical impact of pharmacogenetic screening
|
Pugh, Jada
|
|
|
2 |
S1 |
p.
|
article
|
| 650 |
P710: Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank
|
Frangione, Erika
|
|
|
2 |
S1 |
p.
|
article
|
| 651 |
P216: Phenotype and genotype of Vietnamese patients with X-linked adrenoleukodystrophy
|
Vu, Dung
|
|
|
2 |
S1 |
p.
|
article
|
| 652 |
P207: Phenotype-driven algorithms for enhanced rare disease diagnostics
|
Cooperstein, Isabelle
|
|
|
2 |
S1 |
p.
|
article
|
| 653 |
P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders
|
Saeidian, Amir Hossein
|
|
|
2 |
S1 |
p.
|
article
|
| 654 |
P017: Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns
|
O'Grady, Lauren
|
|
|
2 |
S1 |
p.
|
article
|
| 655 |
P136: Phenotypic characterization and genetic interrogation of patients with cleidocranial dysplasia*
|
Mitchell, Shakela
|
|
|
2 |
S1 |
p.
|
article
|
| 656 |
P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome*
|
McWalter, Kirsty
|
|
|
2 |
S1 |
p.
|
article
|
| 657 |
P317: Phenotypic variability among three family members with RAD21 Cornelia de Lange syndrome
|
Cole, Stacey
|
|
|
2 |
S1 |
p.
|
article
|
| 658 |
P018: Phenylketonuria families and researchers evaluating evidence (PHEFREE), the NIH Rare Disease Consortium for PKU
|
Arnold, Georgianne
|
|
|
2 |
S1 |
p.
|
article
|
| 659 |
P336: PIK3CA-overgrowth in a patient with Down syndrome: Rare coexistence and its management implications
|
Alsadah, Adnan
|
|
|
2 |
S1 |
p.
|
article
|
| 660 |
P534: Piloting an Australian quality assurance program interpretive module for genomic testing
|
Byrne, Alicia
|
|
|
2 |
S1 |
p.
|
article
|
| 661 |
P307: Pioneering integrated hereditary prostate genetic testing service in a physician office laboratory
|
Hoo, Jayne
|
|
|
2 |
S1 |
p.
|
article
|
| 662 |
P233: PKD1 hypomorphic variant in a girl with tuberous sclerosis complex and polycystic kidneys
|
Glass, Jennifer
|
|
|
2 |
S1 |
p.
|
article
|
| 663 |
P820: Place hereditary angioedema in the radar of pediatricians through an innovative education program and measure impact with real world evidence*
|
Yu, Christine
|
|
|
2 |
S1 |
p.
|
article
|
| 664 |
P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease
|
Schulze, Katharina
|
|
|
2 |
S1 |
p.
|
article
|
| 665 |
P711: PMS2 in somatic oncology testing: Real or pseudogene interference?
|
Waltman, Lindsey
|
|
|
2 |
S1 |
p.
|
article
|
| 666 |
P530: Point-of-care genetic testing with paired E-consult: An effective alternative service delivery model for patients with breast cancer
|
Kobelka, Christine
|
|
|
2 |
S1 |
p.
|
article
|
| 667 |
P089: POLE and brain tumors: Case report and review of the medical literature
|
Turner, Joyce
|
|
|
2 |
S1 |
p.
|
article
|
| 668 |
P235: Polycystic kidney disease and hepatic fibrosis: Phenotypic expansion of Sotos syndrome
|
Mehta, Seysha
|
|
|
2 |
S1 |
p.
|
article
|
| 669 |
P627: Pool of normal optimization for NGS-based CNV calling in a clinical setting
|
Neveu, Benjamin
|
|
|
2 |
S1 |
p.
|
article
|
| 670 |
P303: Population prevalence of sex chromosome trisomy varies by genetic ancestry
|
Davis, Shanlee
|
|
|
2 |
S1 |
p.
|
article
|
| 671 |
P831: Positive allosteric modulation in treatment of GRIN1 gene related neurodevelopmental disorders: Promises and challenges
|
Abbott, Jamie
|
|
|
2 |
S1 |
p.
|
article
|
| 672 |
P325: Postnatal progressive craniosynostosis: An unusual presentation leading to cascade diagnosis for multiple generations
|
Ogawa, Jessica
|
|
|
2 |
S1 |
p.
|
article
|
| 673 |
P461: Potential founder effect in PPT1 in CLN1 disease in Mexican-Mestizo population
|
Contreras-Capetillo, Silvina
|
|
|
2 |
S1 |
p.
|
article
|
| 674 |
P007: PP4 criteria specifications for proximal urea cycle disorders*
|
Simpson, Kara
|
|
|
2 |
S1 |
p.
|
article
|
| 675 |
P793: Pre- and post-implementation of protocol for genetics evaluation for intrauterine fetal demise at Texas Children’s Hospital
|
Mizerik, Elizabeth
|
|
|
2 |
S1 |
p.
|
article
|
| 676 |
P173: Precision animal modeling and VUS-resolution in a novel AXIN2-related disorder
|
Burrage, Lindsay
|
|
|
2 |
S1 |
p.
|
article
|
| 677 |
P474: Precision child health: Integrating a consultative pharmacogenetics (PGx) program into clinical care at the Hospital for Sick Children*
|
Cohn, Iris
|
|
|
2 |
S1 |
p.
|
article
|
| 678 |
P147: Precision medicine approaches to treatment for HNRNPH2 mutations*
|
Zhu, Huiping
|
|
|
2 |
S1 |
p.
|
article
|
| 679 |
P496: Predictors of genetic counseling uptake when using a family health history platform for hereditary cancer risk
|
Sadeghpour, Azita
|
|
|
2 |
S1 |
p.
|
article
|
| 680 |
P784: Prenatal and perinatal features of a type 2 collagenopathy and COL2A1 variant
|
McNamee, Lisa
|
|
|
2 |
S1 |
p.
|
article
|
| 681 |
P697: Prenatal diagnosis and postnatal clinical course of a fetus with low-level mosaic trisomy 17q
|
Ghasemi, Reza
|
|
|
2 |
S1 |
p.
|
article
|
| 682 |
P796: Prenatal diagnosis of a novel biallelic ARFGEF1-related disorder due to uniparental Isodisomy: A case report
|
Coltri, Julia
|
|
|
2 |
S1 |
p.
|
article
|
| 683 |
P804: Prenatal diagnosis of atypical Holt-Oram syndrome caused by a novel inherited intragenic TBX5 duplication: A rare mechanism with variable expressivity
|
Mackley, Michael
|
|
|
2 |
S1 |
p.
|
article
|
| 684 |
P798: Prenatal diagnosis of GATA6-related disorder in a maternal-fetal dyad: The value of prenatal diagnosis in complex decision-making
|
Ho, Wendy
|
|
|
2 |
S1 |
p.
|
article
|
| 685 |
P806: Prenatal diagnosis of maternal uniparental disomy of chromosome 20: A case report and review of the literature
|
Urbina, Catherine
|
|
|
2 |
S1 |
p.
|
article
|
| 686 |
P815: Prenatal diagnosis of tetrasomy 21: Case reports
|
Byerly, Kyna
|
|
|
2 |
S1 |
p.
|
article
|
| 687 |
P732: Prenatal diagnostic genetic testing in 2023: The experience of a medical center-affiliated cytogenetics laboratory
|
Rafferty, Kelly
|
|
|
2 |
S1 |
p.
|
article
|
| 688 |
P811: Prenatally diagnosed ring chromosome 18: A case report
|
Nelson, Corrine
|
|
|
2 |
S1 |
p.
|
article
|
| 689 |
P737: Prenatal phenotype and female congenital genital malformation caused by a novel KDM6A mutation in a three-generation pedigree
|
An, Yu
|
|
|
2 |
S1 |
p.
|
article
|
| 690 |
P781: Prenatal whole exome sequencing: Diagnostic yield, syndromic landscape, and incidence and uptake of secondary findings
|
Avello, Kayleigh
|
|
|
2 |
S1 |
p.
|
article
|
| 691 |
P514: Preparation to use a genetic risk score to screen newborns for type 1 diabetes risk in Early Check
|
Cope, Heidi
|
|
|
2 |
S1 |
p.
|
article
|
| 692 |
P382: Presentation of dual molecular diagnoses of two patients with neurodevelopmental disorder
|
Ercelen, Defne
|
|
|
2 |
S1 |
p.
|
article
|
| 693 |
P083: Prevalence and penetrance of LZTR1 pathogenic variants: To screen or not to screen?
|
Shehayeb, Susan
|
|
|
2 |
S1 |
p.
|
article
|
| 694 |
P148: Prevalence, diagnostic features, and medical outcomes of females with mosaic Turner syndrome (45,X/47,XXX): Results from the InsighTS Registry*
|
Klamut, Natalia
|
|
|
2 |
S1 |
p.
|
article
|
| 695 |
P181: Prevalence of and risk factors for autism spectrum disorder in individuals with Turner syndrome: Results from the InsighTS Registry
|
Bettencourt, Megan
|
|
|
2 |
S1 |
p.
|
article
|
| 696 |
P204: Primary care electronic medical record features predicting genetics referrals
|
Hernandez, Cristal Hernandez
|
|
|
2 |
S1 |
p.
|
article
|
| 697 |
P196: Primary care precision medicine clinic: A retrospective analysis of patient trends, testing modalities, and evolving visit models from 2019-2023
|
Dreikorn, Erika
|
|
|
2 |
S1 |
p.
|
article
|
| 698 |
P513: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using an EHR-agnostic tele-engagement platform
|
Vuocolo, Blake
|
|
|
2 |
S1 |
p.
|
article
|
| 699 |
P042: Prolonged survival of a patient with combined oxidative phosphorylation deficiency 11 secondary to biallelic variants in the RMND1 gene
|
Fraustro, Milena
|
|
|
2 |
S1 |
p.
|
article
|
| 700 |
P379: Proposing pathogenicity of an SGCE variant of unknown clinical significance in a 17-year-old with new onset dystonia
|
Joseph, Abrianne
|
|
|
2 |
S1 |
p.
|
article
|
| 701 |
P551: Provider perspectives on genomic care in safety-net neonatal intensive care units
|
Wojcik, Monica
|
|
|
2 |
S1 |
p.
|
article
|
| 702 |
P337: Psychosocial adjustment and distress in neonatal vs adolescent diagnosis of SRY–related gonadal dysgenesis: Two illustrative cases
|
Leonard, Jacqueline
|
|
|
2 |
S1 |
p.
|
article
|
| 703 |
P468: 22q11DS with maternal mosaic nonoverlapping isodicentric 22q11 duplication
|
Spahr, Zachary
|
|
|
2 |
S1 |
p.
|
article
|
| 704 |
P754: 2q22.1q22.3 microdeletion: A case report and literature review
|
Xi, Yanwei
|
|
|
2 |
S1 |
p.
|
article
|
| 705 |
P891: Quality-of-life and healthcare accessibility in Native American myopathy: Study design, demographics, diagnosis, and chronic health conditions of enrolled subjects
|
Wang, Magnolia
|
|
|
2 |
S1 |
p.
|
article
|
| 706 |
P870: Racial disparity in the diagnosis of mitochondrial disease
|
McGinn, Daniel
|
|
|
2 |
S1 |
p.
|
article
|
| 707 |
P853: Racial, ethnic, and socioeconomic disparities in general genetics evaluation and testing in the adult population*
|
Gold, Jessica
|
|
|
2 |
S1 |
p.
|
article
|
| 708 |
P392: Rapid complement mediated TMA diagnosis and early intervention in a renal intensive care unit using Nanopore technology
|
Yousfi, Nadhi
|
|
|
2 |
S1 |
p.
|
article
|
| 709 |
P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype
|
Rust, Laura
|
|
|
2 |
S1 |
p.
|
article
|
| 710 |
P437: Rapid genome sequencing detects complete paternal UPD6 leading to diagnosis of transient neonatal diabetes mellitus with prompt treatment and counseling
|
Hughes, Hannah
|
|
|
2 |
S1 |
p.
|
article
|
| 711 |
P425: Rare case of double aneuploidy chromosomes 20q-21q: The importance of precision medicine in the new era
|
Moreno-Giraldo, Lina
|
|
|
2 |
S1 |
p.
|
article
|
| 712 |
P805: Rare clinical gene variant of GBE1: Glycogen storage disease IV
|
Miller, Megan
|
|
|
2 |
S1 |
p.
|
article
|
| 713 |
P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey
|
Coleman, Jessica Cooley
|
|
|
2 |
S1 |
p.
|
article
|
| 714 |
P865: Rare disease narratives on social media
|
Scott, Cassidy
|
|
|
2 |
S1 |
p.
|
article
|
| 715 |
P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat
|
Waskow, Emily
|
|
|
2 |
S1 |
p.
|
article
|
| 716 |
P347: RareResolve: Gene-humanized animal models for resolving pathogenicity in variants of uncertain significance (VUS)
|
Hopkins, Christopher
|
|
|
2 |
S1 |
p.
|
article
|
| 717 |
P099: Rare within the rare: A case of young-onset meningioma revealing the diagnosis of BAP1-tumor predisposition syndrome
|
Manookian, Rachelle
|
|
|
2 |
S1 |
p.
|
article
|
| 718 |
P611: Real-world comparison of HLA callers from exome sequencing data
|
Lin, Yi-Lin
|
|
|
2 |
S1 |
p.
|
article
|
| 719 |
P716: Real-world implications of new population genomic datasets for clinical variant interpretation
|
Kumar, Runjun
|
|
|
2 |
S1 |
p.
|
article
|
| 720 |
P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*
|
Spector, Emily
|
|
|
2 |
S1 |
p.
|
article
|
| 721 |
P197: Reclassification of variants following renal genetics testing: Uncommon yet impactful for diagnosis and management
|
Lim, Euyn
|
|
|
2 |
S1 |
p.
|
article
|
| 722 |
P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1
|
Mohan, Shruthi
|
|
|
2 |
S1 |
p.
|
article
|
| 723 |
P473: Reconciling medical genetics educational competencies and closing gaps in undergraduate medical education*
|
Burnside, Rachel
|
|
|
2 |
S1 |
p.
|
article
|
| 724 |
P095: Recontacting patients with a CHEK2 or ATM pathogenic variant for updated NCCN screening guidelines: Report from an NCI-designated cancer center
|
Neimeyer, Katie
|
|
|
2 |
S1 |
p.
|
article
|
| 725 |
P841: Recruitment, consent and DNA sample acquisition in a US precision health cohort during the COVID-19 pandemic
|
Derry, Allyson
|
|
|
2 |
S1 |
p.
|
article
|
| 726 |
P423: Recurrent pulmonary hemorrhages as a presenting symptom of congenital dysfibrinogenemia in a hospital patient identified from rapid whole genome sequencing
|
Hart, Rachel
|
|
|
2 |
S1 |
p.
|
article
|
| 727 |
P594: Reducing disparities in cystic fibrosis newborn screening in New York State
|
Kay, Denise
|
|
|
2 |
S1 |
p.
|
article
|
| 728 |
P034: Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population
|
McNutt, Markey
|
|
|
2 |
S1 |
p.
|
article
|
| 729 |
P859: Reframing the narrative on incompatible with life in trisomy 18 and 13*
|
Bruns, Deborah
|
|
|
2 |
S1 |
p.
|
article
|
| 730 |
P344: Renal failure in an infant with PAX2 whole-gene duplication
|
Zuhdi, Kareem
|
|
|
2 |
S1 |
p.
|
article
|
| 731 |
P572: Repeated exome reanalysis is most impactful after two years and the majority of new findings are in neurodevelopmental genes*
|
Li, Megan
|
|
|
2 |
S1 |
p.
|
article
|
| 732 |
P286: Report of individual diagnosed with MPS type 1 attenuated form in late adulthood
|
Lea, Jenna
|
|
|
2 |
S1 |
p.
|
article
|
| 733 |
P431: Respiratory distress in the setting of a right diaphragmatic eventration in a newborn with a pathogenic FLNA gene variant
|
Fraustro, Milena
|
|
|
2 |
S1 |
p.
|
article
|
| 734 |
P060: Response to intravenous citrate on a patient on CKRT with pyruvate carboxylase deficiency type B (severe neonatal form)
|
Celin, Mercedes Rodriguez
|
|
|
2 |
S1 |
p.
|
article
|
| 735 |
P090: Results from the Genetic Risk Analysis in Ovarian Cancer (GRACE) study
|
Rope, Alan
|
|
|
2 |
S1 |
p.
|
article
|
| 736 |
P122: Retinoblastoma discordant monozygotic twins and the discovery of an intron 15 RB1 variant
|
Jessen, Jaime
|
|
|
2 |
S1 |
p.
|
article
|
| 737 |
P087: Retrospective analysis of comprehensive cancer panel sequencing at Fox Chase Cancer Center to evaluate the QIAGEN Clinical Insight Interpret database
|
Guo, Tingwei
|
|
|
2 |
S1 |
p.
|
article
|
| 738 |
P359: Retrospective analysis of non-ketotic hyperglycinemia patients in Central and Eastern Kentucky
|
Reeves, Shane
|
|
|
2 |
S1 |
p.
|
article
|
| 739 |
P126: Retrospective study of the impact of Endopredict: Experience from a hospital center
|
Amorim, Marta
|
|
|
2 |
S1 |
p.
|
article
|
| 740 |
P523: Returning all clinically relevant findings from genomic sequencing: Preliminary results from the incidental genomics RCT
|
Bombard, Yvonne
|
|
|
2 |
S1 |
p.
|
article
|
| 741 |
P064: Returning genomic risk for hereditary breast and ovarian cancer: Clinical outcomes through standard of care vs research return of results*
|
Abbasi, Ilham
|
|
|
2 |
S1 |
p.
|
article
|
| 742 |
P881: Revealing the hidden costs: Exploring the financial toxicity of hereditary cancer syndromes
|
Rajeziesfahani, Sepideh
|
|
|
2 |
S1 |
p.
|
article
|
| 743 |
P211: Review of genomic test orders for pediatric inpatients receiving exome and genome sequencing
|
Streff, Haley
|
|
|
2 |
S1 |
p.
|
article
|
| 744 |
P504: Risk management for pediatric patients with clinically actionable pathogenic and likely pathogenic variants with onset throughout the lifespan
|
Urban, Gretchen
|
|
|
2 |
S1 |
p.
|
article
|
| 745 |
P605: RNA sequencing as a second-line test for rare disease
|
Marshall, Aren
|
|
|
2 |
S1 |
p.
|
article
|
| 746 |
P764: RNA sequencing improves assessment of variants of uncertain significance from fetal genome and exome sequencing*
|
Rehman, Atteeq
|
|
|
2 |
S1 |
p.
|
article
|
| 747 |
P403: Role of comprehensive renal genetic testing in diagnosing a RMND-1 mitochondrial disease in two adult cases exhibiting variable disease phenotypes
|
Stein, Quinn
|
|
|
2 |
S1 |
p.
|
article
|
| 748 |
P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis
|
Pickup, Elizabeth
|
|
|
2 |
S1 |
p.
|
article
|
| 749 |
P355: Rubinstein-Taybi syndrome: Typical and atypical, Nemours experience and beyond
|
Bhat, Gifty
|
|
|
2 |
S1 |
p.
|
article
|
| 750 |
P283: SATB1-related disorder secondary to chromothripsis
|
Kacpura, Abigail
|
|
|
2 |
S1 |
p.
|
article
|
| 751 |
P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing*
|
Manders, Toby
|
|
|
2 |
S1 |
p.
|
article
|
| 752 |
P419: Schaaf-Yang syndrome: A rare syndrome resulting from a de novo pathogenic variant in MAGEL2 on 15q11
|
Eckert, Kathryn
|
|
|
2 |
S1 |
p.
|
article
|
| 753 |
P475: Secondary findings analysis in the personalized environment and genes study: Reduced return in disorders with autosomal recessive inheritance pattern*
|
Johnston, Jennifer
|
|
|
2 |
S1 |
p.
|
article
|
| 754 |
P277: Second individual with craniosynostosis and microdeletion including 14q22: Premature fusion of cranial sutures and copy number variation
|
Rapoza, Rebekah
|
|
|
2 |
S1 |
p.
|
article
|
| 755 |
P680: Segregation outcomes of embryos undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) in the setting of a familial reciprocal translocation
|
Klavanian, Jeannie
|
|
|
2 |
S1 |
p.
|
article
|
| 756 |
P152: Seizure severity across neurogenetic conditions in Simons Searchlight*
|
Kowanda, Michelle
|
|
|
2 |
S1 |
p.
|
article
|
| 757 |
P709: Self reported vs genetic ancestry from the GENCOV COVID-19 genomic sequencing study
|
Frangione, Erika
|
|
|
2 |
S1 |
p.
|
article
|
| 758 |
P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences
|
Dipple, Katrina
|
|
|
2 |
S1 |
p.
|
article
|
| 759 |
P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates
|
Wenger, Tara
|
|
|
2 |
S1 |
p.
|
article
|
| 760 |
P777: Severely elevated bile acids in pregnancy and no-call result on prenatal cell-free DNA screening
|
Curtin, Anna
|
|
|
2 |
S1 |
p.
|
article
|
| 761 |
P278: Severe secretory diarrhea investigated by genome sequencing and RNA-seq yields ultrarare diagnosis of trichohepatoenteric syndrome (THES)
|
Yurkoski, Jacqueline
|
|
|
2 |
S1 |
p.
|
article
|
| 762 |
P762: Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders*
|
Liscovitch-Brauer, Noa
|
|
|
2 |
S1 |
p.
|
article
|
| 763 |
P892: “Should I let them know I have this?”: Concerns and experiences of genetic discrimination amongst individuals with hereditary cancer syndromes
|
Gopalakrishnan, Ridhi
|
|
|
2 |
S1 |
p.
|
article
|
| 764 |
P023: Siblings with autism and asparagine synthetase deficiency: A phenotypic expansion of the condition’s neurodevelopmental profile
|
Stackhouse, Ashlyn
|
|
|
2 |
S1 |
p.
|
article
|
| 765 |
P106: Single-cell and spatial transcriptomics integrated with bulk RNA-seq, uncovers differences in bidirectional tumor-macrophage crosstalk in IDHwt and IDHmut gliomas
|
Motevasseli, Meysam
|
|
|
2 |
S1 |
p.
|
article
|
| 766 |
P450: Single cell RNA-seq analysis of skin tissue from individuals with hypermobile Ehlers-Danlos syndrome
|
Galindo, Maureen
|
|
|
2 |
S1 |
p.
|
article
|
| 767 |
P720: Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon
|
Moe, Madison
|
|
|
2 |
S1 |
p.
|
article
|
| 768 |
P667: Single gene deletion of FGF3 in a patient with features of 11q13 microdeletion syndrome
|
Rahi, Hamed
|
|
|
2 |
S1 |
p.
|
article
|
| 769 |
P343: Skeletal anomalies in RAD21-associated Cornelia de Lange syndrome: Two additional cases
|
Bunch, Miriam
|
|
|
2 |
S1 |
p.
|
article
|
| 770 |
P257: Sleep correlates of behavior functioning in Cornelia de Lange syndrome
|
Ng, Rowena
|
|
|
2 |
S1 |
p.
|
article
|
| 771 |
P505: Sleeping giant: Underrecognized clinical genetics programs across the vast Veterans Affairs (VA) Network
|
Eble, Tanya
|
|
|
2 |
S1 |
p.
|
article
|
| 772 |
P218: SMAD6 variants in congenital heart disease
|
Schwartz, Marci
|
|
|
2 |
S1 |
p.
|
article
|
| 773 |
P719: SMN1 deletion and silent carrier screening for spinal muscular atrophy
|
San Lai, Poh
|
|
|
2 |
S1 |
p.
|
article
|
| 774 |
P167: Snyder-Robinson syndrome: An ultrarare polyamine multisystemic disorder presenting in a craniofacial clinic*
|
Weisshappel, Kaitlin
|
|
|
2 |
S1 |
p.
|
article
|
| 775 |
P838: Spectrum of short tandem repeats in Taiwanese population
|
Hsu, Ching
|
|
|
2 |
S1 |
p.
|
article
|
| 776 |
P478: Streamlining precision medicine: Cancer predisposition germline testing in a large, integrated health system
|
Manace, Leslie
|
|
|
2 |
S1 |
p.
|
article
|
| 777 |
P735: Structural variant analysis unveils loss-of-function promoter deletion in candidate gene WDR44
|
Sneddon, Tam
|
|
|
2 |
S1 |
p.
|
article
|
| 778 |
P657: Structural variants identified by short-read genome sequencing solves missing heritability in retinal dystrophies
|
Ullah, Ehsan
|
|
|
2 |
S1 |
p.
|
article
|
| 779 |
P462: Student experiences and reflections on rotations with co-supervision
|
Francisco, Elizabeth
|
|
|
2 |
S1 |
p.
|
article
|
| 780 |
P851: Successful (and unsuccessful) recruitment approaches and participant loss in a Down syndrome survey
|
Santoro, Stephanie
|
|
|
2 |
S1 |
p.
|
article
|
| 781 |
P574: Summary of findings from comprehensive genome sequencing performed in a healthy population cohort*
|
Casalino, Selina
|
|
|
2 |
S1 |
p.
|
article
|
| 782 |
P424: Suspected CYP26B1-related disorder in a Mixtec patient with craniosynostosis and skeletal anomalies: A case report and literature review
|
Verma, Kajal
|
|
|
2 |
S1 |
p.
|
article
|
| 783 |
P028: Switching treatment to cipaglucosidase alfa+miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease
|
Kishnani, Priya
|
|
|
2 |
S1 |
p.
|
article
|
| 784 |
P188: Synchronized long-read genome, methylene, epigenome, and transcriptome for a putative small fiber peripheral polyneuropathy research study
|
Glanz, Max
|
|
|
2 |
S1 |
p.
|
article
|
| 785 |
P102: Systematic characterization of cancer ecosystem evolution
|
Cariba, Solsa
|
|
|
2 |
S1 |
p.
|
article
|
| 786 |
P584: Systematic review and reclassification of 20 years of RB1 single nucleotide and copy number variants
|
Brewer, Niambi
|
|
|
2 |
S1 |
p.
|
article
|
| 787 |
P243: TERC variant of uncertain significance associated with bone marrow failure and cirrhosis: Exposing barriers to TERC classification
|
Kelkar, Janhawi
|
|
|
2 |
S1 |
p.
|
article
|
| 788 |
P399: Terminal 7q deletion: How does inferior cerebellar vermis hypoplasia translate to pathology in a clinical setting?
|
Aggarwal, Priya
|
|
|
2 |
S1 |
p.
|
article
|
| 789 |
P731: TERT gene promoter region mutation analysis in glioma using multiplex SNaPshot method
|
Cai, Li
|
|
|
2 |
S1 |
p.
|
article
|
| 790 |
P613: The addition of exome-wide CNV analysis to multi-gene panels contributes to positive yield
|
Talsness, Dana
|
|
|
2 |
S1 |
p.
|
article
|
| 791 |
P788: The ADGRA2 gene is associated with multiple fetal brain anomalies in humans
|
Chong, Karen
|
|
|
2 |
S1 |
p.
|
article
|
| 792 |
P155: The ClinGen framework for naming monogenic diseases*
|
Thaxton, Courtney
|
|
|
2 |
S1 |
p.
|
article
|
| 793 |
P179: The ClinGen Pharmacogenomics Working Group: Developing frameworks for evaluating pharmacogenomic gene validity and actionability
|
Gong, Li
|
|
|
2 |
S1 |
p.
|
article
|
| 794 |
P846: The ClinGenRecs web portal: Streamlining access to medical genetics resources and tools
|
Muchmore, Brian
|
|
|
2 |
S1 |
p.
|
article
|
| 795 |
P595: The ClinGen Syndromic Disorders Gene Curation Expert Panel
|
O'Donnell-Luria, Anne
|
|
|
2 |
S1 |
p.
|
article
|
| 796 |
P614: The clinical genome: Validation data beyond clinical exome
|
Tripolszki, Kornelia
|
|
|
2 |
S1 |
p.
|
article
|
| 797 |
P482: The clinical utility of genome-wide sequencing for rare disease: A multidimensional map
|
Hayeems, Robin
|
|
|
2 |
S1 |
p.
|
article
|
| 798 |
P065: The clinical utility of plasma circulating tumor DNA in the diagnosis and disease surveillance in non-DLBCL non-Hodgkin’s lymphomas*
|
Zhu, Minyi
|
|
|
2 |
S1 |
p.
|
article
|
| 799 |
P479: The Clinician-reported Genetic testing Utility InDEx: A revised tool to quantify genome-wide sequencing utility in neonatal intensive care (C-GUIDE NICU)
|
Dolman, Lena
|
|
|
2 |
S1 |
p.
|
article
|
| 800 |
P547: The clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing content validity for a new measure for sequencing-based newborn screening
|
Luca, Stephanie
|
|
|
2 |
S1 |
p.
|
article
|
| 801 |
P416: The conundrum of cardiovascular imaging and genetic testing in the context of nonspecific connective tissue findings
|
Powell-Hamilton, Nina
|
|
|
2 |
S1 |
p.
|
article
|
| 802 |
P270: The diagnostic dilemma of tissue specific mosaicism: A case of mosaic supernumerary chromosome 8 detected via buccal sample
|
Hubbel, Alexandra
|
|
|
2 |
S1 |
p.
|
article
|
| 803 |
P418: The diagnostic journey of Mexican patients with Verheij syndrome
|
Cifuentes-Uribe, Karla
|
|
|
2 |
S1 |
p.
|
article
|
| 804 |
P186: The earliest sign of hypogonadotropic hypogonadism: The importance of genetic screening and evaluation in individuals with microphallus
|
Leonard, Jacqueline
|
|
|
2 |
S1 |
p.
|
article
|
| 805 |
P267: The essential role of genetic testing in the phenotypic heterogeneity of Stargardt disease
|
Nalamalapu, Rithvik
|
|
|
2 |
S1 |
p.
|
article
|
| 806 |
P112: The expression profile of SLCO genes in hepatocellular carcinoma and their association with clinical outcomes
|
Chen, Hubert
|
|
|
2 |
S1 |
p.
|
article
|
| 807 |
P159: The eXtraordinarY Babies Study: Familial and perinatal predictors of 36-month language outcomes in prenatally diagnosed sex chromosome trisomy*
|
Tartaglia, Nicole
|
|
|
2 |
S1 |
p.
|
article
|
| 808 |
P269: The genetic prevalence of molybdenum cofactor deficiency as a result of MOCS1 and MOCS2: A genetics and biostatistics perspective
|
Patel, Ishita
|
|
|
2 |
S1 |
p.
|
article
|
| 809 |
P516: The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing
|
Clausen, Marc
|
|
|
2 |
S1 |
p.
|
article
|
| 810 |
P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank
|
Gandhi, Geethanjali Devadoss
|
|
|
2 |
S1 |
p.
|
article
|
| 811 |
P493: The "Goldilocks" panel: Determining the optimal number of genes for reproductive genetic carrier screening
|
Burnett, Leslie
|
|
|
2 |
S1 |
p.
|
article
|
| 812 |
P827: The Greenwood Genetic Center's approach to developing the future genetics workforce
|
Tribble, Leta
|
|
|
2 |
S1 |
p.
|
article
|
| 813 |
P518: The impact of mainstreaming general genetic testing on patient wait-times
|
Guerin, Andrea
|
|
|
2 |
S1 |
p.
|
article
|
| 814 |
P417: The importance of genetic counseling for families with hyperinsulinism
|
Sanders, Victoria
|
|
|
2 |
S1 |
p.
|
article
|
| 815 |
P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program
|
Xicola, Rosa Munoz
|
|
|
2 |
S1 |
p.
|
article
|
| 816 |
P717: The landscape of clinical geneticists’ perspectives and practices in India
|
Patil, Sushma
|
|
|
2 |
S1 |
p.
|
article
|
| 817 |
P882: The long and winding road of biomarker legislation
|
Peck, Katlin
|
|
|
2 |
S1 |
p.
|
article
|
| 818 |
P524: The mainstream model improves equitable access to germline testing for Veterans Affairs patients with advanced prostate cancer
|
Scheuner, Maren
|
|
|
2 |
S1 |
p.
|
article
|
| 819 |
P309: The missing patella; A rare case of unilateral patellar agenesis in autosomal dominant osteo-onychodysplasia
|
Seylani, Allen
|
|
|
2 |
S1 |
p.
|
article
|
| 820 |
P586: The qMini assay identifies an overlooked class of splice variants
|
Guan, Bin
|
|
|
2 |
S1 |
p.
|
article
|
| 821 |
P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*
|
Austin-Tse, Christina
|
|
|
2 |
S1 |
p.
|
article
|
| 822 |
P308: The scope of incorporating preemptive pharmacogenomics testing for public healthcare
|
Sheng, Joy
|
|
|
2 |
S1 |
p.
|
article
|
| 823 |
P154: The second known case of CNP-related hypomyelinating leukodystrophy is diagnosed by RNA-seq and demonstrates an abnormal blood methylation profile*
|
Farris, Joseph
|
|
|
2 |
S1 |
p.
|
article
|
| 824 |
P520: The Translational Genomics Hub (TGH): A new precision medicine tool at the University of Alberta
|
Caluseriu, Oana
|
|
|
2 |
S1 |
p.
|
article
|
| 825 |
P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot)
|
Liaqat, Khurram
|
|
|
2 |
S1 |
p.
|
article
|
| 826 |
P410: Think beyond a unifying diagnosis: A case of dual diagnoses of Klinefelter syndrome and DYNC1H1-related disorder
|
Fafoutis, Eleni
|
|
|
2 |
S1 |
p.
|
article
|
| 827 |
P373: Third patient with biallelic variants in SMAD6 with an overlapping phenotype: Delays, dysmorphic features, and cardiovascular problems
|
Leon, Eyby
|
|
|
2 |
S1 |
p.
|
article
|
| 828 |
P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum
|
Lacaria, Melanie
|
|
|
2 |
S1 |
p.
|
article
|
| 829 |
P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians
|
Mehta, Lakshmi
|
|
|
2 |
S1 |
p.
|
article
|
| 830 |
P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing*
|
Pizzo, Lucilla
|
|
|
2 |
S1 |
p.
|
article
|
| 831 |
P066: TP53 variant characteristics and phenotypes of 96 families evaluated at an academic medical center*
|
Chase, Colby
|
|
|
2 |
S1 |
p.
|
article
|
| 832 |
P855: Traceback testing for ovarian cancer: Implementer and participant perspectives*
|
Henrikson, Nora
|
|
|
2 |
S1 |
p.
|
article
|
| 833 |
P328: Transcription factor HAND2 in syndromic congenital heart disease
|
Moccia, Amanda
|
|
|
2 |
S1 |
p.
|
article
|
| 834 |
P107: Transgenic lines to investigate the impact of IL7Rα gain-of-function mutation during hematopoietic development in zebrafish embryos
|
Figueira de Paula Pinto, Hugo
|
|
|
2 |
S1 |
p.
|
article
|
| 835 |
P232: Translational advancements in Cockayne syndrome: Preparing for an AAV-mediated hERCC8 gene therapy trial
|
Thompson, Robert
|
|
|
2 |
S1 |
p.
|
article
|
| 836 |
P038: Trimethylaminuria: Investigations of patient and healthcare provider experiences
|
Kirk, Jillian
|
|
|
2 |
S1 |
p.
|
article
|
| 837 |
P129: Trio-based whole exome sequencing reveals novel pathogenic variants in TMPRSS7 associated with neurodevelopmental disorders*
|
Lu, Weiliang
|
|
|
2 |
S1 |
p.
|
article
|
| 838 |
P769: Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies
|
Gershon, Ariel
|
|
|
2 |
S1 |
p.
|
article
|
| 839 |
P279: Triple diagnosis of X-linked chondrodysplasia punctata, MECP2-related disorder, and mosaic Jacobs syndrome in a male infant via rapid WGS
|
Shields, Kathleen
|
|
|
2 |
S1 |
p.
|
article
|
| 840 |
P266: Trisomy 5p: Long recognized, rarely published
|
Kim, Gabriela
|
|
|
2 |
S1 |
p.
|
article
|
| 841 |
P802: Trisomy 22 with 80% mosaicism: A case report
|
Root, Emily
|
|
|
2 |
S1 |
p.
|
article
|
| 842 |
P222: TTN truncating variants are enriched in cardiomyopathy/arrhythmia and neuromuscular cases and M-band exon 358 contributes to primary cardiomyopathy/arrhythmia
|
Regalado, Ellen
|
|
|
2 |
S1 |
p.
|
article
|
| 843 |
P542 :Twenty years of newborn and carrier screening in the Old Order Amish population of Southwestern Ontario: Evolution and evaluation
|
Abbott, Jamie
|
|
|
2 |
S1 |
p.
|
article
|
| 844 |
P118: Two cases of angiocentric glioma with MYB::QKI fusion in a single institution
|
Kumar, Deepak
|
|
|
2 |
S1 |
p.
|
article
|
| 845 |
P783: Two fetuses with hereditary hemorrhagic telangiectasia presenting with rare finding of arteriovenous malformations
|
Burrill, Natalie
|
|
|
2 |
S1 |
p.
|
article
|
| 846 |
P332: Two independent molecular diagnoses of Loeys-Dietz syndrome in a sibship and their children: A case report
|
Coleman, Tanner
|
|
|
2 |
S1 |
p.
|
article
|
| 847 |
P176: 20,000 type 1 diabetes (T1D) exome cohort In Ukraine
|
Shchubelka, Khrystyna
|
|
|
2 |
S1 |
p.
|
article
|
| 848 |
P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders
|
Nallamilli, Babi Ramesh Reddy
|
|
|
2 |
S1 |
p.
|
article
|
| 849 |
P515: Uncertainty and information management for Lynch syndrome in a genomic screening cohort: Connections to clinical engagement
|
Hallquist, Miranda
|
|
|
2 |
S1 |
p.
|
article
|
| 850 |
P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
|
Kanavy, Dona
|
|
|
2 |
S1 |
p.
|
article
|
| 851 |
P111: Uncovering a late diagnosis: A case study on 22q11.2 deletion in an adult with hypoparathyroidism
|
Benyahia, Steven
|
|
|
2 |
S1 |
p.
|
article
|
| 852 |
P743: Uncovering hidden complex structural mechanisms: Conventional karyotype as a complement to chromosomal microarray
|
Haines, Katherine
|
|
|
2 |
S1 |
p.
|
article
|
| 853 |
P358: Uncovering the clinical spectrum of citrin deficiency in Korea: Insights from a study of 30 patients
|
Ko, Jung Min
|
|
|
2 |
S1 |
p.
|
article
|
| 854 |
P174: Understanding patterns in variants of uncertain significance to facilitate reclassification using machine-learning based variant effect predictors
|
Zhang, Cindy
|
|
|
2 |
S1 |
p.
|
article
|
| 855 |
P877: Understanding the advantages of translating educational materials for the Clinical Genome Resource
|
Cordova, Ineke
|
|
|
2 |
S1 |
p.
|
article
|
| 856 |
P053: Understanding the measurement of nicotinamide adenine dinucleotide (NAD+) from dried blood spots through a population study
|
Smith, Sara
|
|
|
2 |
S1 |
p.
|
article
|
| 857 |
P210: Unexpected recurrence of vascular Ehlers-Danlos syndrome in sibships due to parental mosaicism for COL3A1 variants
|
Conner, Kenzie
|
|
|
2 |
S1 |
p.
|
article
|
| 858 |
P842: Unified comprehensive analysis of NGS and optical genome mapping data for constitutional applications using Bionano VIA software
|
Norgaard, Zachary
|
|
|
2 |
S1 |
p.
|
article
|
| 859 |
P548: Universal germline genetic testing for breast cancer at the Princess Margaret Cancer Centre
|
Peck, Larissa
|
|
|
2 |
S1 |
p.
|
article
|
| 860 |
P644: Unlocking the code: When SpliceAI falls short in variant assessment
|
Grzybowski, Jessica
|
|
|
2 |
S1 |
p.
|
article
|
| 861 |
P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG
|
Saravanan, Deepika Pugalenthi
|
|
|
2 |
S1 |
p.
|
article
|
| 862 |
P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis
|
Pan, Yinghong
|
|
|
2 |
S1 |
p.
|
article
|
| 863 |
P662: Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome
|
Ma, Deqiong
|
|
|
2 |
S1 |
p.
|
article
|
| 864 |
P471: Uptake of a chatbot for disclosure of germline genetic test results through a universal genetic testing program*
|
Zukin, Elyssa
|
|
|
2 |
S1 |
p.
|
article
|
| 865 |
P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation
|
Stander, Zinandre
|
|
|
2 |
S1 |
p.
|
article
|
| 866 |
P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy*
|
White, Amy
|
|
|
2 |
S1 |
p.
|
article
|
| 867 |
P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype
|
Man, Alice
|
|
|
2 |
S1 |
p.
|
article
|
| 868 |
P380: Use of dextrose containing fluids and intralipids in a patient with KCNA1 related neuromyotonia
|
Patton, John
|
|
|
2 |
S1 |
p.
|
article
|
| 869 |
P469: Use of multigene panel advantages in clinical suspicion of neurofibromatosis type 1: Case series
|
Aguilar, Dione
|
|
|
2 |
S1 |
p.
|
article
|
| 870 |
P499: US genetics professional workforce in 2023
|
Lyon, Megan
|
|
|
2 |
S1 |
p.
|
article
|
| 871 |
P545: Using direct messaging for patient engagement in inherited cancer risk management: A pilot intervention
|
Choi, Sarah
|
|
|
2 |
S1 |
p.
|
article
|
| 872 |
P224: Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism
|
Montano, Carolina
|
|
|
2 |
S1 |
p.
|
article
|
| 873 |
P578: Using the large-language model GPT4 to programmatically determine functional evidence supporting or refuting variant pathogenicity from literature*
|
Lebo, Matthew
|
|
|
2 |
S1 |
p.
|
article
|
| 874 |
P779: Utility and diagnostic yield of prenatal skeletal dysplasia panel testing
|
Shaw, Jay
|
|
|
2 |
S1 |
p.
|
article
|
| 875 |
P603: Utility of cytogenomic SNP microarray for bone marrow failure syndrome patients
|
Pizzo, Lucilla
|
|
|
2 |
S1 |
p.
|
article
|
| 876 |
P763: Utility of genetic evaluation of congenital posterior fossa anomalies*
|
Lee, Ingrid
|
|
|
2 |
S1 |
p.
|
article
|
| 877 |
P625: Utility of highest pathogenic variant frequency approach for application of BA1/BS1 ACMG criteria to reduce variants of uncertain significance
|
Salsbery, Kyle
|
|
|
2 |
S1 |
p.
|
article
|
| 878 |
P071: Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories
|
Hamilton, Sarah
|
|
|
2 |
S1 |
p.
|
article
|
| 879 |
P645: Utility of RNAseq in a cohort of undiagnosed congenital myopathy patients: A case series
|
Genetti, Casie
|
|
|
2 |
S1 |
p.
|
article
|
| 880 |
P786: Utility of whole exome sequencing in desperate prenatal patients
|
Savasan, Zeynep Alpay
|
|
|
2 |
S1 |
p.
|
article
|
| 881 |
P519: Utilization of one month follow-up to increase uptake of genetic counseling appointments in a healthcare-based population genomic screening cohort
|
Cercy, Alison
|
|
|
2 |
S1 |
p.
|
article
|
| 882 |
P097: Validation of a clinical test for genome-wide homologous recombination deficiency signatures in solid tumors
|
Beaudry, Felix
|
|
|
2 |
S1 |
p.
|
article
|
| 883 |
P782: Validation of low-pass genome sequencing for prenatal diagnosis
|
Mighton, Chloe
|
|
|
2 |
S1 |
p.
|
article
|
| 884 |
P312: Value of early evaluations with comprehensive genetic testing in congenital heart disease and childhood onset heart failure: Case report
|
Prakash, Supraja
|
|
|
2 |
S1 |
p.
|
article
|
| 885 |
P687: Variant classification discrepancies in the ACADVL gene
|
Dickson, Alexa
|
|
|
2 |
S1 |
p.
|
article
|
| 886 |
P649: Variant +7/-10 copy number alterations and their association with pathological features and prognosis in patients with glioblastoma
|
Fang, Xiaolan
|
|
|
2 |
S1 |
p.
|
article
|
| 887 |
P011: Variant interpretation in functionally defined patients: Lessons from methionine synthase deficiency (cblG)
|
Rosenblatt, David
|
|
|
2 |
S1 |
p.
|
article
|
| 888 |
P091: Variants at variance: An assessment of discordant classifications and phenotypes among TP53 variants from the international LiFT UP study
|
Levine, Alison Schwartz
|
|
|
2 |
S1 |
p.
|
article
|
| 889 |
P404: Variants of uncertain significance in genes associated with inherited connective tissue disorders pose unique challenges
|
Mazzella, Allison
|
|
|
2 |
S1 |
p.
|
article
|
| 890 |
P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)
|
Giugliani, Roberto
|
|
|
2 |
S1 |
p.
|
article
|
| 891 |
P408: Vision and enamel anomalies in Jalili syndrome: Case study and genetic insights
|
Choi, Jane
|
|
|
2 |
S1 |
p.
|
article
|
| 892 |
P289: Vitreoretinopathy is common in children with CTNNB1 mutations
|
Bedoukian, Emma
|
|
|
2 |
S1 |
p.
|
article
|
| 893 |
P259: What are the educational needs of caregivers of children with Pierre Robin sequence?
|
Emerick, Katherine
|
|
|
2 |
S1 |
p.
|
article
|
| 894 |
P320: When to consider genetic testing in infants with hip dysplasia
|
Peck, Torri
|
|
|
2 |
S1 |
p.
|
article
|
| 895 |
P054: When to look for homocystinuria: Preliminary results from HCU network America’s patient surveys
|
Chapman, Kimberly
|
|
|
2 |
S1 |
p.
|
article
|
| 896 |
P291: Where are all the kids with fragile X syndrome? A retrospective study of the diagnostic odyssey in Georgia
|
Black, Paige
|
|
|
2 |
S1 |
p.
|
article
|
| 897 |
P127: Where epigenetics, cancer and hypoxia meet
|
Abraham, Veronica
|
|
|
2 |
S1 |
p.
|
article
|
| 898 |
P704: Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family
|
Khan, Yasir Naseem
|
|
|
2 |
S1 |
p.
|
article
|
| 899 |
P264: Whole genome sequencing for the diagnosis of undiagnosed global developmental delay
|
Jang, Dae-Hyun
|
|
|
2 |
S1 |
p.
|
article
|
| 900 |
P339: Whole genome sequencing identifies biallelic variants in newly described EMC10-related neurodevelopmental disorder not detected by prior genetic testing
|
Lenberg, Jerica
|
|
|
2 |
S1 |
p.
|
article
|
| 901 |
P157: Willing but not (quite) ready: Primary care provider perspectives on expanded genetic screening in children*
|
Branch, Elizabeth
|
|
|
2 |
S1 |
p.
|
article
|
| 902 |
P271: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 903 |
P068: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 904 |
P298: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 905 |
P883: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 906 |
P879: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 907 |
P415: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 908 |
P190: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 909 |
P511: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 910 |
P512: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 911 |
P521: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 912 |
P251: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 913 |
P394: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 914 |
P896: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 915 |
P124: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 916 |
P391: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 917 |
P401: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 918 |
P509: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 919 |
P051: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 920 |
P413: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 921 |
P177: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 922 |
P175: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 923 |
P231: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 924 |
P758: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 925 |
P201: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 926 |
P057: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 927 |
P427: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 928 |
P448: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 929 |
P128: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 930 |
P884: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 931 |
P372: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 932 |
P807: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 933 |
P096: Withdrawn
|
|
|
|
2 |
S1 |
p.
|
article
|
| 934 |
P563: With great panels comes great responsibility: In pursuit of a well-evidenced age-based genomic screen
|
Foreman, Ann Katherine
|
|
|
2 |
S1 |
p.
|
article
|
| 935 |
P502: Workflow evaluation of individuals for abnormal newborn screens in the era of workforce shortage: Experience from two academic centers
|
Zarate, Yuri
|
|
|
2 |
S1 |
p.
|
article
|
| 936 |
P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids*
|
Saei, Hassan
|
|
|
2 |
S1 |
p.
|
article
|
| 937 |
P439: Yet another neurodevelopmental single gene disorder: G3BP1-related disorder
|
Richardson, Kate
|
|
|
2 |
S1 |
p.
|
article
|
| 938 |
P790: Yield of exome sequencing in congenital brain malformations identified on fetal MRI
|
Fortin, Olivier
|
|
|
2 |
S1 |
p.
|
article
|
| 939 |
Table of Contents
|
|
|
|
2 |
S1 |
p.
|
article
|
Journal description