| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Author Index
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2 |
S1 |
p.
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artikel
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| 2 |
Editorial Board
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2 |
S1 |
p.
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artikel
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| 3 |
Masthead
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2 |
S1 |
p.
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artikel
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| 4 |
O41: A Canadian lab's clinical validation experience with optical genome mapping as a front-line diagnostic test for hematological neoplasms
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Hamadeh, Zeid
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2 |
S1 |
p.
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artikel
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| 5 |
O18: Addressing misattributed parentage discovered through trio-based genetic testing: Best practice guideline developed by multidisciplinary team at a pediatric hospital
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Paras, Andrea
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2 |
S1 |
p.
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artikel
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| 6 |
O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases
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Ungar, Wendy
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2 |
S1 |
p.
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artikel
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| 7 |
O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
|
Rehm, Heidi
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2 |
S1 |
p.
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artikel
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| 8 |
O26: Analysis of patient-reported outcomes and a functional assessment from 3-year nitisinone treatment trial in patients with alkaptonuria
|
Spears, Kathryn
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2 |
S1 |
p.
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artikel
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| 9 |
O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
|
Brand, Harrison
|
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2 |
S1 |
p.
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artikel
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| 10 |
O19: Antisense oligonucleotide targeting a linked-SNP provides allele-specific and effective knockdown to a dominant negative SPTAN1 pathogenic variant
|
Wang, Christiana
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2 |
S1 |
p.
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artikel
|
| 11 |
O14: A polygenic score for height to distinguish between children with idiopathic and pathologic short stature
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Shelley, John
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2 |
S1 |
p.
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artikel
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| 12 |
O08: Basic training in reproductive genetics: Enhancing genetic knowledge of subspecialists during fellowship
|
Wapner, Ronald
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2 |
S1 |
p.
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artikel
|
| 13 |
O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges
|
Lewis, Robert
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2 |
S1 |
p.
|
artikel
|
| 14 |
O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis
|
Hon-Yin Chung, Brian
|
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|
2 |
S1 |
p.
|
artikel
|
| 15 |
O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency
|
Sethuraman, Meena
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2 |
S1 |
p.
|
artikel
|
| 16 |
O13: Clinical utility of prenatal cell-free DNA screening for chromosomal aneuploidies in low risk pregnancies after euploid embryo transfer
|
Madjunkov, Mitko
|
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2 |
S1 |
p.
|
artikel
|
| 17 |
O12: Clonal hematopoiesis-related variants confounding hereditary cancer testing: Results from matched tumor-normal sequencing of 26,329 cancer patients
|
Birsoy, Ozge
|
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|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 19 |
O42: Development of an anti-sense oligonucleotide therapeutic targeting RhoBTB2-related epileptic encephalopathy
|
Wheeler, Matthew
|
|
|
2 |
S1 |
p.
|
artikel
|
| 20 |
O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)
|
Bivona, Stephanie
|
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2 |
S1 |
p.
|
artikel
|
| 21 |
O37: Elucidating the metabolic signature of Krabbe disease in plasma using untargeted metabolomics
|
Wurth, Rachel
|
|
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2 |
S1 |
p.
|
artikel
|
| 22 |
O32: Ensemble prediction of the impact of missense variants substantially decreases VUS rate in genetic testing
|
Kueffner, Robert
|
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|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
| 25 |
O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city
|
Chung, Wendy
|
|
|
2 |
S1 |
p.
|
artikel
|
| 26 |
O21: Genetic testing stewardship program: A five year overview of a novel service delivery model
|
Amlie-Wolf, Louise
|
|
|
2 |
S1 |
p.
|
artikel
|
| 27 |
O44: Genome sequencing as a first-tier prenatal diagnostic test
|
Jobanputra, Vaidehi
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
| 31 |
O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium
|
Del Gobbo, Giulia
|
|
|
2 |
S1 |
p.
|
artikel
|
| 32 |
O29: Low rate of hereditary ovarian cancer screening in individuals meeting National Comprehensive Cancer Network guidelines
|
Omorodion, Jacklyn
|
|
|
2 |
S1 |
p.
|
artikel
|
| 33 |
O02: Pathogenicity mechanism and gene therapy of hereditary spastic paraplegia caused by recurrent UBAP1 variant
|
Gu, Shen
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 35 |
O09: Phenome-wide studies of hereditary transthyretin amyloidosis in the All of Us research program
|
Williams-Rogers, Cassia
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
| 39 |
O16: The new normal: Six years of mainstreaming germline genetic testing across cancer sites
|
Peck, Larissa
|
|
|
2 |
S1 |
p.
|
artikel
|
| 40 |
O28: The utility of genetic testing in adults with chronic kidney disease: A systematic review and meta-analysis
|
Schott, Clara
|
|
|
2 |
S1 |
p.
|
artikel
|
| 41 |
O40: UNC EDGE: An undergraduate genomics experience to foster diversity in genomics
|
Powell, Sabrina
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 43 |
O24: Unveiling the power of HiFi genome sequencing: One test to rule them all?
|
Farrow, Emily
|
|
|
2 |
S1 |
p.
|
artikel
|
| 44 |
O01: Using multiplexed functional data to reduce the VUS burden in populations underrepresented in genomic medicine
|
Dawood, Moez
|
|
|
2 |
S1 |
p.
|
artikel
|
| 45 |
O27: Utility of cfDNA in comprehensive genomic profiling of complex vascular anomalies: Informing decision making in medical therapy
|
Li, Dong
|
|
|
2 |
S1 |
p.
|
artikel
|
| 46 |
O34: Utility of targeted RNA analysis in neurological disorders
|
Ichikawa, Shoji
|
|
|
2 |
S1 |
p.
|
artikel
|
| 47 |
O03: Vosoritide increases growth velocity in hypochondroplasia: Phase 2 trial results
|
Dauber, Andrew
|
|
|
2 |
S1 |
p.
|
artikel
|
| 48 |
P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome
|
McDonald-McGinn, Donna
|
|
|
2 |
S1 |
p.
|
artikel
|
| 49 |
P801: Abortion preferences of patients with abnormal prenatal genetic diagnosis in an access-restricted state
|
Carlisle, Steven
|
|
|
2 |
S1 |
p.
|
artikel
|
| 50 |
P397: A case of congenital myasthenic syndrome with AChR deficiency due to biallelic variants in CHRNE gene
|
Batheja, Aashish
|
|
|
2 |
S1 |
p.
|
artikel
|
| 51 |
P407: A case of homozygous LMNA c.991C>T (p.Arg331Trp) laminopathy with predominant cardiomyopathy
|
Sterner, Rosalie
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 53 |
P062: A case of ornithine transcarbamylase deficiency
|
Campo, Suad Siuffi
|
|
|
2 |
S1 |
p.
|
artikel
|
| 54 |
P850: Accelerated optical genome mapping analysis with Stratys compute and guided assembly
|
Cali, Damla Senol
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 56 |
P116: A clinical algorithm to guide mainstreaming in pediatric oncology in Quebec
|
Witkowski, Leora
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 58 |
P046: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics
|
Osundiji, Mayowa
|
|
|
2 |
S1 |
p.
|
artikel
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| 59 |
P670: A collaborative model integrating clinical genetics and molecular pathology for tumor/normal paired whole exome sequencing testing
|
Liu, Yi
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 61 |
P888: A community-based approach to the reporting of secondary findings in Indigenous communities in Canada
|
Coe, Teresa
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
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| 63 |
P659: A comprehensive genotyping study in Mexican patients with Fanconi anemia identified reported, novel, and founder pathogenic variants
|
Torres, Leda
|
|
|
2 |
S1 |
p.
|
artikel
|
| 64 |
P483: A comprehensive study of spinal muscular atrophy testing referrals’ data among the Iranian population since 2006
|
Khanbazi, Ali
|
|
|
2 |
S1 |
p.
|
artikel
|
| 65 |
P370: Acquired macrocephaly with impaired intellectual development (MACID): First reported case of an affected child and parental mosaicism
|
Spaeth, Christine
|
|
|
2 |
S1 |
p.
|
artikel
|
| 66 |
P839: A curated research catalogue of structural variation detected by optical genome mapping
|
Chun Pang, Andy Wing
|
|
|
2 |
S1 |
p.
|
artikel
|
| 67 |
P052: Acute liver failure in a toddler with known classic galactosemia due to exposure to lactaid milk
|
Walson, Lily
|
|
|
2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 69 |
P707: Additional evidence supporting and expanding the phenotype associated with MED12L loss-of-function variants
|
Rasmussen, Kristen
|
|
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2 |
S1 |
p.
|
artikel
|
| 70 |
P753: Additional significant findings in individuals with Ashkenazi Jewish founder variants
|
Basiliere, Michele
|
|
|
2 |
S1 |
p.
|
artikel
|
| 71 |
P085: Addition of new variant classes to the CIViC data model
|
Danos, Arpad
|
|
|
2 |
S1 |
p.
|
artikel
|
| 72 |
P728: A de novo interstitial 19q13.12q13.32 duplication: Report of a novel patient and literature review
|
Lyalin, Dmitry
|
|
|
2 |
S1 |
p.
|
artikel
|
| 73 |
P510: A descriptive analysis of genetic factors identified in 100% pediatric mortality review
|
Giret, Isabella
|
|
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2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
| 76 |
P840: Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients
|
Audet, Sebastien
|
|
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2 |
S1 |
p.
|
artikel
|
| 77 |
P887: A focus group interview study toward developing a press release guide unique to genomic issues
|
Arakawa, Misaki
|
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2 |
S1 |
p.
|
artikel
|
| 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.
|
artikel
|
| 79 |
P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome
|
Donoghue, Sarah
|
|
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2 |
S1 |
p.
|
artikel
|
| 80 |
P834: A genetic counselors watchlist: Framework for gene discovery
|
Lippa, Natalie
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2 |
S1 |
p.
|
artikel
|
| 81 |
P161: A genetics-first approach to identify novel variants of the calcium sensing receptor associated with autosomal dominant hypocalcemia type 1*
|
Chang, Jeremy
|
|
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2 |
S1 |
p.
|
artikel
|
| 82 |
P248: A genotype-first approach to identifying treatable genomic conditions in a large healthcare-based population
|
Murphy, Karyn Meltz
|
|
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2 |
S1 |
p.
|
artikel
|
| 83 |
P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
|
Ficicioglu, Can
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2 |
S1 |
p.
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artikel
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| 84 |
P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases
|
Verheijen, Jan
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2 |
S1 |
p.
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artikel
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| 85 |
P438: AGTPBP1-related neurodevelopmental and movement disorder in a child with ataxia and developmental delays
|
Williams, Monika
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2 |
S1 |
p.
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artikel
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| 86 |
P860: A health systems framework to advance equity in medical genetics policy and practice
|
Aden, Muna
|
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2 |
S1 |
p.
|
artikel
|
| 87 |
P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy
|
Bazalar-Montoya, Jeny
|
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2 |
S1 |
p.
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artikel
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| 88 |
P329: A homozygous start-loss mutation in TERF1 causes a syndrome associated with long telomeres
|
Anandampillai, Tanvi
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2 |
S1 |
p.
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artikel
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| 89 |
P797: A likely pathogenic variant of PBX1: Abnormal renal morphology and multiple cardiac anomalies identified by fetal ultrasound
|
Perry, Elana
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2 |
S1 |
p.
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artikel
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| 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
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2 |
S1 |
p.
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artikel
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| 91 |
P013: A long-term disease monitoring program in patients with long-chain fatty acid oxidation disorders
|
Inbar-Feigenberg, Michal
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2 |
S1 |
p.
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artikel
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| 92 |
P371: Alternative diagnoses of PHACES syndrome with overlapping features
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Bengur, Ecenur Tuc
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2 |
S1 |
p.
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artikel
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| 93 |
P792: Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age
|
Gofin, Yoel
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2 |
S1 |
p.
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artikel
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| 94 |
P562: A model for genetic counselor result triage in a busy pediatric neurology division
|
Blanco, Kirsten
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2 |
S1 |
p.
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artikel
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| 95 |
P640: Amplification and long-read sequencing of the mitochondrial genome
|
Spangler, Julianna
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2 |
S1 |
p.
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artikel
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| 96 |
P585: Amplification-based nanopore sequencing accurately detects HBA and HBB SNVs, indels, and structural variants in clinical thalassemia samples
|
Lopes, Jaime
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2 |
S1 |
p.
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artikel
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| 97 |
P432: An adult with Kagami-Ogata syndrome misdiagnosed as Freeman-Sheldon: The importance of genetics follow-up
|
Carter, Lauren
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2 |
S1 |
p.
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artikel
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| 98 |
P409: An alpha-mannosidosis journey to the diagnosis: A case report and literature review
|
Suarez, Alissa
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2 |
S1 |
p.
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artikel
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| 99 |
P040: Analytical and clinical validation of succinylacetone, amino Acids, and acylcarnitines in dried blood spots on tandem mass spectrometry in Pakistan
|
Jafri, Lena
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2 |
S1 |
p.
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artikel
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| 100 |
P718: Analytical validation of a comprehensive targeted DNA sequencing panel for hematologic malignancies
|
Yu, Ruoying
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2 |
S1 |
p.
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artikel
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| 101 |
P715: Analyzing performance of the Twist exome with CNV backbone at various probe densities leveraging Golden Helix VS-CNV
|
Fortier, Nathan
|
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2 |
S1 |
p.
|
artikel
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| 102 |
P323: An atypical presentation in a child with PTPN11 Noonan syndrome due to TRIO-related neurodevelopmental disorder
|
Motta, Jamie
|
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2 |
S1 |
p.
|
artikel
|
| 103 |
P442: An atypical presentation of 17q12 recurrent deletion syndrome resulting in the misdiagnosis of Meckel-Gruber syndrome: A case report
|
Renna, Kathleen
|
|
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2 |
S1 |
p.
|
artikel
|
| 104 |
P434: An atypical presentation of Williams syndrome in a patient with a co-occurring FOXP4 likely pathogenic variant: A case report
|
Abel, Rebecca
|
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2 |
S1 |
p.
|
artikel
|
| 105 |
P170: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
|
Kiel, Mark
|
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2 |
S1 |
p.
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artikel
|
| 106 |
P816: A new fetal sonographic characteristics of Baraitser–Winter cerebrofrontofacial syndrome with ACTB mutation: Pulmonary stenosis
|
Yan, Kai
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2 |
S1 |
p.
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artikel
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| 107 |
P749: A newly created database to improve the process of variant reclassification for a university-based hospital laboratory
|
Hicks, Melissa
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2 |
S1 |
p.
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artikel
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| 108 |
P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus
|
Awamleh, Zain
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2 |
S1 |
p.
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artikel
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| 109 |
P559: A novel alternate service delivery model for genetic counseling in a rural population: The New Brunswick experience
|
Hodson, Katherine
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2 |
S1 |
p.
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artikel
|
| 110 |
P441: A novel candidate gene for syndromic bone marrow failure: Haploinsufficiency of SETMAR in a child with severe aplastic anemia
|
Baker, Laura
|
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2 |
S1 |
p.
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artikel
|
| 111 |
P833: A novel cardiac genetic knowledge scale: Development and evaluation of face validity and concept validity
|
Christian, Susan
|
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2 |
S1 |
p.
|
artikel
|
| 112 |
P363: A novel case of Coffin-Siris syndrome due to duplication in 6q25.3
|
Tu, Shao Ching
|
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2 |
S1 |
p.
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artikel
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| 113 |
P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
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P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family
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P629: A novel 198 kb partial duplication in KMT2C: Report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma
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P384: A novel nonsense variant in the DMBX1 gene associated with neurodevelopmental delay: A case report of three siblings
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P436: A novel pathogenic variant in NALCN gene in a newborn with CLIFAHDD syndrome
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P200: A novel 13q31.3q32.3 deletion identified on follow up of an inconclusive prenatal cell-Free DNA screening for trisomy 13
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P446: A novel SLC9A6 variant identified in an autistic boy with epilepsy: Christianson syndrome
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P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections
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P549: A novel team approach to evaluating and counseling children with variants of uncertain significance on microarray
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P374: A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric aciduria III
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P330: A novel WARS2 variant impacting dimerization in trans with a recurrent pathogenic variant in a child with features of NEMMLAS
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P620: A PCR/nanopore assay for accurate variant detection in hard-to-decipher carrier screening genes with automated analysis software
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P376: A pediatric patient with a novel duplication of 1q21.2 to 1q25.3: A case report
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P465: Aplasia cutis congenita associated with trisomy 21: A unique presentation in a 5-month-old female
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P641: Application of AlphaMissense prediction to pathogenicity classification of missense variants from clinical exome sequencing
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P140: A rare phenomenon: Double trisomy rescue detected during clinical SNP microarray testing*
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P398: A rare report of a child with mosaic trisomy 4
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P739: A recurrent partial trisomy 9 and 18 chromosome in siblings resulting from 3:1 meiotic segregation of a maternal balanced translocation
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P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
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P808: A retrospective analysis of pregnancy outcome and obstetric care in individuals with genetic conditions compared to controls
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P063: A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries*
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P104: A single-center perspective on glioma epidemiology from 2018-2023 in the Middle East
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P445: A Sotos syndrome case report: Describing the complex work-up following a variant of uncertain significance in the NSD1 gene
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P390: Assessing and addressing the burden of VUSs within adult medical genetics practices
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P497: Assessing comfort levels in emergency medicine physicians when managing inborn errors of metabolism
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P742: Assessing stability of frozen samples for Bionano optical single DNA mapping for diagnosis of facioscapulohumeral muscular dystrophy type 1
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P072: Assessing the characteristics associated with carriers of the CHEK2 S428F variant
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P685: Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories
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P262: Assessing urolithiasis polygenic risk score predictive performance across Black and White population groups: Insights from the All of Us database
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P405: Association between Weiss-Kruszka syndrome (WSKA) and obesity
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P698: A streamlined testing of mosaic maternal isodicentric supernumerary chromosome 15q11.2q13 [idic(15)]
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P005: Atidarsagene autotemcel (hematopoietic stem cell–gene therapy) preserves cognitive and motor development in metachromatic leukodystrophy with up to 12 years follow-up*
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P281: Atypical maternally inherited CDKN1C variant causing IMAGe syndrome in a newborn
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P321: Atypical presentation of vascular Ehlers-Danlos syndrome (vEDS)
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P724: A unique presentation of triple X syndrome with four copies of SHOX and additional low-level aneuploidy mosaicism
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P354: Automated reanalysis of clinical genetic test results: High variant reclassification rate
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P776: Autosomal recessive cutis laxa type 1B in two successive pregnancies due to a novel homozygous EFEMP2 variant
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P648: A validation study using droplet digital PCR to identify copy number changes at complement factor H related gene regions
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P459: A variant in KIF4A segregating with an X-linked ocular and neurodevelopmental phenotype in a multigenerational family
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P452: A 33-year-old male diagnosed with Pitt-Hopkins syndrome: The spectrum broadens
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P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis
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P477: Barriers and facilitators to implementing genomic medicine: A scoping review of the global landscape*
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P100: BCR/ABL1 p230 transcript in B-lymphoblastic leukemia/lymphoma: A case report
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P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*
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P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients
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P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing
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P678: Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome
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P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure
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P377: Biallelic variants of uncertain significance in a newborn with generalized arterial calcification of infancy
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P651: Bleeding complications in pregnant carriers of factor IX and factor XI ascertained through carrier screening
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P443: Blepharophimosis-intellectual developmental disorder syndrome: First reported case in Hispanic population
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P552: Bringing equitable access to cancer genetic services: Implementing and adapting a digital hereditary cancer screening tool at an FQHC
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P741: Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant
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P869: Building an equitable network to study genetic risk of severe acute malnutrition in multiple African populations
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P761: Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data*
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P033: Cardiac manifestations of Fabry disease: Insights from a clinic population through cardiac magnetic resonance imaging
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P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
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P580: Care4Rare Canada: Application of a multi-omics protocol to diagnose rare genetic disease patients at the end of standard-of-care*
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P681: Carrier screening with the ACMG 113: An early look and new insights
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P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic
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P322: Case report: A splice site variant in COL4A6 may cause recurrent stroke
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P631: Case report: Haploinsufficiency of the HMGB1 gene causes 13q12.3 microdeletion syndrome
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P810: Case report: Incidental diagnosis of Lynch syndrome by prenatal microarray
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P110: Case report of APC promoter 1B deletion associated with classic FAP
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P694: Case report: Unraveling a complex chromosomal rearrangement case using optical genome mapping
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P814: Cases of survivorship: Prenatal counseling for double heterozygosity in skeletal dysplasia
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P375: Case study: Germline chromoanagenesis associated with global developmental delay, dysmorphic features and failure to thrive
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P803: Cautionary tale on preconception counseling and genetic testing in a case of non-ketotic hyperglycinemia (NKH) in dichorionic diamniotic twins
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P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping
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P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES
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P165: Challenges and errors in selecting the most appropriate clinical genetic testing*
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P246: Challenges in establishing best practices for gene therapy informed consent for hemophilia A/B
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P751: Challenges in interpretation of RNA-Seq data limit variant reclassification
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P162: Changes of café-au-lait spots intensity by selumetinib in neurofibromatosis type I*
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P025: Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia
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P074: Characterization of complex hereditary cancer associated germline variants with long read sequencing
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P663: Characterization of Epstein-Barr virus-associated smooth muscle tumor in an immunocompromised patient
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P182: Characterization of neurocognitive differences between mosaic and non-mosaic pediatric Turner syndrome patients
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P686: Characterization of Usher syndrome cell line genotypes and investigation of novel microRNA biomarkers using microRNA microarray and droplet digital PCR
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P169: Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene
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P153: Characterizing the spectrum of CACNA1A-related disorders*
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P098: CHEK2 variants contributing to hereditary breast cancer in Pakistan: A tertiary healthcare center experience
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P705: ChIP-DIP: A highly multiplexed method for mapping DNA-associated proteins to study the epigenomic landscape
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P362: Chromosomal 7p deletion associated with Saethre-Chotzen syndrome
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P334: Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion
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P396: Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain
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P250: Clarification of variant reporting for homologous genes resolved through systematic literature review: ACMG SF genes CALM1, CALM2, and CALM3
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P689: Classification of TP53 non-synonymous sequence variants using structural and molecular dynamic simulation analyses
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P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
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P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*
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P633: Clinical and genetic findings of >3,900 individuals tested via the navigateAPDS sponsored genetic testing program
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P357: Clinical and genetic profiling of cleidocranial dysplasia: A comprehensive study of 28 Korean patients
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P069: Clinical and genomic spectrum of Lynch syndrome in Thailand: A 7-year experience of cancer genetic testing at Siriraj Genomics
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P084: Clinical integration of potential germline findings from a tumor testing precision medicine program
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P143: Clinical investigation of bleeding diatheses in patients with Hermansky-Pudlak syndrome*
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P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*
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P708: Clinical laboratory quality system enhancement addressing acquired loss of chromosome Y
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P284: Clinical overlap in two patients with 46,XY DSD and limb abnormalities with identical variant in candidate gene LHX9
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P498: Clinical treatment patterns and outcomes of sickle cell from the Arkansas newborn screening long term follow-up database study: 2011-2023
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P601: Clinical utility of MS-MLPA for the diagnosis of Prader-Willi/Angelman syndrome: The GGC experience
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P583: Clinical utility of optical genome mapping as an additional test to standard cytogenetic workup of hematological malignancies
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P768: Clinical utility of prenatal exome sequencing: Insights from a 10-year cohort
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P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
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P757: Clinical utility of the 2021 ACMG gene tiers in expanded carrier screening*
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P555: Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study
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P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders
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P133: CNS hemangioblastoma in pediatric patients with von Hippel–Lindau disease: When to start surveillance*
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P863: Colombian Pacific genetics initiative: A project for the diagnosis and research of genetics rare disease
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P672: Commercial cystic fibrosis carrier screening tests and coverage of the ACMG 100 recommended variants
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P560: Community-oriented genetics: Establishing a new pediatric genetics clinic in the Muslim-Arab City of Tayibe, Israel
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P414: Comorbidity of two uncommon chromosomal disorders: First reported case of 49,XXXXY and Cornelia de Lange syndrome
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P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease*
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P119: Comparison of two cases with the same APC genotype and different phenotypes
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P080: Comprehensive overview and analysis of a longstanding pediatric cancer genetics program
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P721: Computational tool performance across BRCA1: A case-control informed analysis
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P101: Confirmation of MYCN amplification as the cause for retinoblastoma eliminates risks for RB related cancers in proband and family members
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P778: Congenital brain malformations in TPK1-related disorder: A novel severe phenotype
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P327: Congenital disorder of glycosylation type IIa with a novel phenotype of bilateral congenital glaucoma
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P044: Congenital erythropoietic porphyria: Disease recurrence after hematopoietic stem cell transplantation
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P421: Connecting features in a patient with supernumerary ring chromosome 1
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P885: Connecting patient experience literature to clinical practice: What individuals and parents desire in delivering the diagnosis of sex chromosome aneuploidy
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P015: Connecting the dots (and neurons): Unraveling the genetic basis of neurotransmitters disorders in a large cohort of Brazilian patients
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P187: Consent frequency for genetic participation and receiving genetic results in White and non-White participants in SPARK
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P114: Considering cancer risk in a patient with CDH1-associated blepharocheilodontic syndrome (BCD1)
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P736: Constitutional mosaic pericentromeric trisomy 8 in a female patient with aplastic anemia
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P292: Contribution of rare variants in the development of familial premature coronary artery disease in a cohort of cardiac patients
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P265: Correlating clinical findings with genetic testing results in patients with concern for connective tissue disorders: A retrospective chart review
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P529: Cost-effectiveness analysis of personalized medicine in cardiovascular prevention through adjusted polygenic risk score screening and monitoring
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P554: Cost not a barrier for adopters of pharmacogenetic testing: Results from a study of causal models in different healthcare systems
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P582: CSMD1 intragenic exonic deletions strengthen the association with neurodevelopmental disorders
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P538: Curious but cautious: Patients’ preferences for all types of clinically actionable genomic incidental results
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P592: Cytogenetic and microarray analysis of prenatally detected congenital heart defects (CHD): Diagnostic findings and variation among CHD subtypes
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P623: Cytogenetic findings in a clinical next generation sequencing panel for very early onset inflammatory bowel disease
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P818: Data from electronic healthcare records expands our understanding of X-linked genetic diseases*
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P676: Deciphering the collagen code: Navigating variant curation complexities in skeletal disorders
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P302: Decoding genetic orchestration: Understanding the cellular and molecular mechanisms of the hematopoietic failure in Fanconi anemia
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P765: Decoding parental reporting preferences from genome sequencing in the presence or absence of a fetal ultrasound phenotype*
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P440: Decoding the GANAB enigma: Novel insights into pediatric cystic kidney disease
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P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database
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P192: Deep neurologic phenotyping and biomarker development in Bohring-Opitz syndrome using EEGs, neurodevelopmental assessments, and DNA methylation signature
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P897: DEIJ advancement in the genomics laboratory through GC-driven advocacy: A process improvement review of sex/gender verification SOPs
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P454: Deletion of exons 10 and 11 in FGFR2: Mother and daughter with sagittal craniosynostosis and micrognathia
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P501: Delivery of monogenic and polygenic results to participants in the Genomic Medicine at Veterans Affairs (GenoVA) study
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P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
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P543: Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada
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P037: Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH vs allogeneic hematopoietic stem cell transplantation
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P058: Design of the prospective study of the clinical, laboratory, and dietary determinates of outcomes in purine and pyrimidine metabolism disorders
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P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing
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P571: Detection of isodisomy utilizing SNP microarray: Frequency, ascertainment, and implications*
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P125: Detection of pancreatic cancer in liquid biopsies using integrative fragmentomics
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P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis
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P544: Developing a health human resource funding and clinical oversight model for genetic services: The Ontario approach
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P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development
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P531: Developing the patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing value of genetic testing from patients’ perspectives in multiple clinical contexts
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P642: Development and deployment of clinical genome sequencing using a cloud-based platform
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P843: Development of a logic model to inform a measurement strategy for a provincial genetics program: Approach and lessons learned
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P252: Development of a scoring system to define lysosomal diseases
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P730: Development of comprehensive gene-/disease-specific analysis and knowledgebase to enhance the efficiency and accuracy of sequence variant interpretation and clinical reporting
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P596: Diagnostic challenges and phenotypic variations in chimeric genome-wide maternal and paternal uniparental disomy: A prenatal and postnatal perspective
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P241: Diagnostic delays in ATP1A3 disorders
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P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders
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P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders
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P451: Digenic inheritance of pathogenic variants in DICER1 and CACNA1I can present as Glow syndrome
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P832: Discovering phenotype-gene correlations using Variant WorkBench
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P273: Discovery of a germline EZH2 variant reveals Weaver syndrome during sequencing of a B-cell acute lymphoblastic leukemia (B-ALL)
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P893: Disparities in pediatric exome sequencing outcomes
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P335: Distinct clinical presentations of affected siblings with acute intermittent porphyria caused by a common pathogenic variant in HMBS
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P258: Diversity of CFTR mutations in a Pakistani population: Implications for comprehensive genetic testing and genetic counseling in cystic fibrosis
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P740: DMD or not DMD? Clinical genome sequencing in the interpretation of complex copy number gains
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P837: DNA methylation profiling in Kabuki syndrome: Steps towards improved classification of variants of uncertain significance
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P244: DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity
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P564: Doing no harm: Exploring the psychosocial impacts of receiving secondary findings from whole exome sequencing
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P503: Do social needs at diagnosis influence acceptance of genetic testing? A retrospective sample of people with ovarian cancer
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P453: Double heterozygous variants in ACVRL1 and GDF2 causing hereditary hemorrhagic telangiectasia and GDF2-related vascular anomaly syndrome
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P285: Double somatic mosaic for pathogenic variants in PIK3CA and GNAQ
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P113: Double trouble: Unraveling the clinical challenges of dual pathogenic variant carriers in hereditary cancer predisposition genes
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P189: Drosophila modeling reclassifies VoUS in EED and PRC2 members: Relevance for clinical interpretation and rare variant burden testing in populations
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P346: DTC-GT case scenarios: Comparing ChatGPT answers to an approach developed by genetics health professionals
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P748: Duplication of 12q24.11-q24.31 in a patient with Noonan-like features
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P029: Early treatment with alglucosidase alfa is associated with improved survival in patients with infantile-onset Pompe disease: Data from Pompe Registry
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P791: Effectiveness of expanded carrier screening and prenatal ultrasound in identifying disorders among consanguineous couples
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P795: Effectiveness of expanded prenatal carrier screening among consanguineous couples of Afghan descent
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P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation
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P876: Effects of social determinants of health on diagnosis of neurofibromatosis type 1 within the All of Us Research Program
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P864: Employees’ views and healthcare utilization following employer-sponsored pharmacogenomic testing at a large US healthcare system
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P889: Evaluating social influences on blood phenylalanine levels in phenylketonuria patients
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P253: Evaluating the clinical diagnostic yield of fragile X and chromosome microarray testing for patients with autism and/or intellectual disability
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P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates*
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P203: Evaluating the impact of Omega-3 fatty acid supplementation on lipid profiles in adults with PPARG polymorphisms: Randomized, double-blind, placebo-controlled trial
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P006: Evaluation and application of a genetic risk score for uric acid in trans-ancestry All of Us cohort*
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P590: Evaluation of stop-loss and frameshift variants extending translation beyond the reference stop codon detected by carrier screening
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P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study
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P527: Evidence-based methodology for developing coordinated genetic service recommendations in Ontario
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P677: Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel
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P591: Examining likely-somatic variants in cancer susceptibility genes identified through germline multigene panel testing
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P047: Exit interviews with caregivers of pediatric patients with classic galactosemia demonstrate the meaningfulness of changes in the ACTION-Galactosemia Kids Trial
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P254: Exome sequencing as a first-tier approach for rare forms of syndromic hearing loss
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P333: Exome sequencing identifies likely pathogenic variants in NF1, LMNA, and SDHC in individual with learning disability and multiple congenital anomalies
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P149: Exome sequencing vs chromosomal microarray for copy number variant detection*
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P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits
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P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency
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P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder
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P300: Expanding the neuropsychological phenotype of KAT6B disorders: Overlapping features with KAT6A syndrome
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P460: Expanding the phenotype: Coarctation of the aorta as a novel clinical feature of Baraitser-Winter syndrome
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P275: Expanding the phenotype of AGTR1-related autosomal recessive renal tubular dysgenesis: Clinical considerations for neonatal care and genetic counseling
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P345: Expanding the phenotype of an ultra-rare neurodevelopmental disorder associated with NACC1
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P319: Expanding the phenotype of EIF3F-related neurodevelopmental disorder
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P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
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P400: Expanding the phenotype of NAA10 related Ogden syndrome
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P426: Expanding the phenotype seen in SPEG-related congenital myopathy
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P180: Expanding the phenotype spectrum of Mendelian diseases with a genotype-first approach
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P295: Expanding the prenatal phenotype of a rare syndrome due to variants in DPH1
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P280: Expansion of TAOK1 related developmental delay phenotype
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P132: Expansion of the IRF2BPL-related disorder phenotype: Initial updates from natural history study*
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P021: Expansion of the phenotype of thiamine pyrophosphokinase deficiency: A treatable cause of Leigh disease, includes severe neuronopathic disease
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P813: Experiences of Black pregnant people offered prenatal diagnosis in the setting of fetal anomalies: A qualitative study
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P799: Experiences with an adult reproductive clinical genetics and genomics clinic: Insights and opportunities
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P043: Experiences with VLCADD in the Old Order Amish community
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P472: Exploring diagnostic yield and challenges in exome sequencing in highly consanguineous Tamil Nadu cohort from South India*
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P294: Exploring episignatures as a potential diagnostic tool for diabetic embryopathy
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P565: Exploring genetic testing for rare disorders of obesity: Experience and perspectives of pediatric weight management providers
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P213: Exploring heterogeneity among gene lists proposed for newborn sequencing
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P022: Exploring preanalytical factors impacting plasma cell-free miRNA-451 levels
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P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing
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P049: Exploring the landscape of phenylketonuria education and learning needs of genetics trainees
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P880: Facilitating return of genetic research results from a biobank repository: Participant uptake and utilization of digital interventions
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P041: False positive VLCAD deficiency screening: Proposed effect of testosterone
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P236: Familial Russell-Silver syndrome: Hypomethylation of imprinting center 1 in two siblings
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P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2
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P338: Far from futile: The value of perimortem rapid exome
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P172: Feasibility of providing genetic cancer risk information to families of patients who are deceased: Experiences of the GRACE study
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P093: Feasibility of whole body MRI and multicancer early detection testing in people at high risk for cancer development
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P878: Federal legislation related to the genetics service delivery system: 2023 trends
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P773: Fetus with Cole-Carpenter type 2 presenting with novel neonatal lethal skeletal dysplasia
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P221: Fibrodysplasia ossificans progressiva (FOP): The patient experience
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P449: Fidrisertib (IPN60130) for the treatment of fibrodysplasia ossificans progressiva: Methodology of the randomized, double-blind, placebo-controlled phase II FALKON trial
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P895: Financial resources for cancer genetic testing: A quality improvement project in a Detroit Metro Area community hospital
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P606: Finding answers for clinical exome-negative patients: The University of Wisconsin Undiagnosed Disease Program
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P092: FISH testing for cMET amplification in 627 molecularly mutational negative patients with non-small cell lung cancers: A single institution's experience
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P673: Four cases of unbalanced (Xq28/Yq12): Autosome translocation identified by chromosomal microarray analysis
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P199: Frequency of secondary findings and returning these results by self-reported race/ethnicity in SPARK
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P353: From hypoplasia to aplasia of the trigeminal nerve: A recurring feature in the diagnosis of Gomez-Lopez-Hernandez syndrome
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P238: From variant of uncertain significance to pathogenic variant: Solving an 8-year diagnostic odyssey for SGMS2-related bone fragility spectrum disorder
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P660: Functional analysis of X-linked dyskeratosis congenita gene (DKC1) showed altered nucleolar localization and post-translational modification
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P163: Functional assessment of IGF-1 and hGH as candidate treatments for Phelan-McDermid syndrome*
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P664: Functional genomic studies resolve an OTUD6B deep intronic variant causing isoform imbalance
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P255: Gain-of-function CASR variants, a common genetic cause of non-surgical hypoparathyroidism: Findings from a sponsored genetic testing program
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P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines
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P598: Gene-disease validity assessments in pediatric movement disorders: Prospective experience and retrospective analysis of concordance with expert curated panels
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P158: Generating advancements in longitudinal analysis in X&Y chromosome variations: Initial data from the multicenter GALAXY Clinical Data Registry and biorepository*
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P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
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P430: Genetically-determined variants lead to neuronal hyperexcitability and clinical psychosis/catatonia: Case series
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P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort
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P654: Genetic counselor involvement increases the uptake and success of familial studies in variant re-classification for disorders of hemostasis
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P550: Genetic counselors’ perspectives on shifting emphasis to post-test counseling following germline genetic testing in cancer care
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P304: Genetic diagnosis of isolated Café au Lait spots through whole exome sequencing
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Oh, Jiyoung
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P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel*
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P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis
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P206: Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood
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P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8
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P556: Genetic providers’ views on trauma-informed care in genetics clinics
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P622: Genetic results in a cohort of 489 patients with inherited myopathies
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Gall, Kim
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P767: Genetics of prenatally diagnosed micro/anophthalmia
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P351: Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes
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P010: Genetic testing is incompletely sensitive for treatable inherited metabolic disorders
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P220: Genetic testing reveals underascertainment of monogenic diabetes: An update from the Rare and Atypical DIAbetes NeTwork (RADIANT)
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P674: Gene variant spectrum in probands with familial exudative vitreoretinopathy
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P828: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome
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P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases
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P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging
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P665: Genome sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of preimplantation genetic testing
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P726: Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing
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P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders
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P632: Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies
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P746: Genome wide, high-throughput, high-resolution structural variation detection at low variant allele fraction for oncology samples
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P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing*
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P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service
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P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape
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P573: Genome-wide short tandem repeat expansion screening using optical genome mapping*
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P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene
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P156: Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation*
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P628: Genomic hot spots in coding regions: Identifying regions enriched for heterozygote excess variants
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P263: Genotype-phenotype associations in CASK disorders: A systematic literature review and report of three cases
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P360: Genotype-phenotype characterization of channelopathies in pediatric patients at a high-complexity hospital in Cali, Colombia, from 2015-2023
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P825: GENYSIS: A novel core facility for clinical evaluation of research genomic sequence
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P282: Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12
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P566: Global genetic health assessment project: Let's not leave anyone behind
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P824: GREGoR: Increasing rare disease diagnosis using emerging technologies and data sharing
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P395: Hallermann-Streiff syndrome: Characteristic features and diagnostic overlap
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P077: Have we considered mosaicism? A nearly missed molecular diagnosis of von Hippel-Lindau
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P260: Healthcare utilization in pediatric patients with Noonan syndrome
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P056: Heightened cerebral blood oxygenation changes during a cognitive task in Glut1 deficiency syndrome (G1D)
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P845: HemaSure-OMXP: A non-toxic venous whole blood collection device enabling the 14-day room temperature stabilization of cell-free DNA
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P734: Hemoglobin S coinheritance with unusual clinically significant beta globin variants
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P700: Heterozygous deletion of valine at position 2321 of RYR2 in two siblings with sudden cardiac death
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P227: High carrier frequency of CYP21A2 hotspot mutations in Southern India: Underscoring the need for genetic testing in congenital adrenal hyperplasia
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P745: High-fidelity whole genome sequencing of FFPE tumor-derived nucleic acids stored at ambient temperature
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P109: Identification of new fusion partners for ETV6 gene in hematologic malignancy by next generation sequencing (NGS)
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P036: Identifying inherited genetic markers associated with insomnia in women with polycystic ovary syndrome (PCOS)
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P215: Impact of electronic health record clinical decision support on adherence to recommended care in patients with hereditary cancer risk
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P070: Impact of genetic test result recall on adherence to cancer risk management recommendations
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P760: Impact of prenatal genetic diagnosis on pregnancy termination: Experience from a single center*
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P794: Impact of the COVID-19 pandemic on prenatal genetic screening test acceptance in Western North Carolina
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P488: Implementation strategies to improve access to genetic services in a low-resources setting: Experience in Chile’s Valparaíso region
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P557: Implementing genomics-informed risk assessment for common complex diseases: A qualitative case study in an academic health system
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P076: Implementing tumor-first genetic testing and parent-of-origin-aware genomic analysis into the diagnostic pipeline for hereditary breast cancer
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P656: Improved diagnostic paradigm using optical genome mapping (OGM) for cytogenomic testing for recurrent pregnancy loss and infertility
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P706: Improved interpretation of PHOX2B missense variants for diagnosis of congenital central hypoventilation syndrome (CCHS) using in silico prediction algorithms
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P844: Improvement of structural variant filtering using racial-specific reference genomes
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P609: Improving genome diagnostics of hemiplegic migraine
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P558: Improving patient care for recurrent pregnancy loss patients via a multidisciplinary relationship between OBGYN and Northwell Labs across Northwell Health
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P771: Incidental detection of maternal cancer in prenatal cell-free DNA screening: Clinical laboratory experience and reporting of multiple structural variants
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P061: Inherited genetic markers for temporomandibular disorder (TMD) pain in polycystic ovary syndrome: Identifying novel therapeutic targets
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P567: Innovations in education: Empowering child neurology residents with basic concepts in genomic testing through a national curriculum
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P823: Insights and strategies for inclusive adolescent and young adult participation in genetics research
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P526: Insurance access to genetic testing: Experiences in the Midwest
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P675: Interrogating the source: An investigation of the impact of founder variants on residual risk in carrier screening
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P617: Is it time to switch to AlphaMissense for in silico missense predictions?
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P849: iSWAB-DNA: A long-term buccal sample collection device that preserves high-quality DNA at room temperature and challenges transportation conditions.
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P752: It's about time: How key genes linked with post-traumatic stress disorder evolve
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P867: “I worry I don’t have control”: The psychosocial impacts of living with a hereditary cancer syndrome
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P661: JAK2 exon 12-15, CALR and MPL essential MPN NGS panel
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P666: Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome
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P886: Knowledge, attitudes, and perceptions of pharmacogenomics among low-income residents of central Indiana
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P639: Large-scale genome reanalysis of 159 individuals affected by undiagnosed genetic diseases from the Stanford Center for Undiagnosed Diseases
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P059: Late onset lipid storage myopathy caused by synergistic heterozygosity in ETFDH and TYMP genes
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P031: Late onset Pompe disease diagnoses missed by standard newborn screening procedure: The Indiana experience
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P383: Leptomeningeal cavernomatosis and non-hemorrhagic lacunar strokes: An unusual phenotype for familial cerebral cavernous malformations
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P296: Leveraging electronic health records (EHR) to identify patients with rare disease: An atypical case of aromatic L-amino acid decarboxylase deficiency
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P894: Limitations in access to genetic counseling training programs across the globe
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P178: Longitudinal neurodevelopmental and medical outcomes in patients with molecularly confirmed RASopathies
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P635: Long read sequencing for the analysis of repeat expansion disorders
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P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia*
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P506: Long-term results and challenges of newborn screening for classic homocystinuria in New York State
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P615: Low rate of clinical follow-up for potential germline variants identified in hematologic malignancies with a next generation sequencing panel
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P775: Maternally inherited 11p15 duplication involving only part of the ICR1 H19/IGF2 domain: Unraveling mild Russell-Silver syndrome phenotype
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P857: Medical genetics and genomics residents’ perceptions of their gaps in knowledge regarding the clinical intersections of race and racism*
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P525: Medical genetics providers require training and institutional support to integrate pharmacogenomic testing
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P533: Meeting the increasing need for inpatient genetics services: Experience at Texas Children’s Hospital
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P288: Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies
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P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay
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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
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P854: Motivations for cascade genetic testing and reactions to results for select adult-onset conditions in a pediatric genomic results study*
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P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases
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P256: Mucolipidosis typs II: Data from northern referral pediatric center in Vietnam
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P365: Muenke syndrome associated with juvenile polyposis syndrome
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P406: Multidisciplinary cooperation for perinatal management following the genetic diagnosis of ATP1A3-related neurological disorder
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P117: Multi-locus inherited neoplasia allele syndrome (MINAS) prevalence in Northern Mexican population: Multicentric study
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P630: Multi-modal testing, including long-read sequencing, to elucidate an unsolved case of dyskeratosis congenita
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P331: Multiomic approach to diagnosis: A case study in the Undiagnosed Diseases Program
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P014: Multiple cases of mosaic X-linked adrenoleukodystrophy in males identified through newborn screening
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P812: Multiple fetal anomalies suggest a role for CDK20 in human ciliopathies
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P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform
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P817: Multivariate symptom modeling and automated phenotype expansion doubles the penetrance of loss-of-function variants in a population-scale cohort*
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P108: Myelodysplastic syndrome (MDS) detected by germline genetic testing for hereditary cancer
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P121: Myeloid neoplasms with the t(3;12)(q26.2;p13)/MECOM-ETV6 translocation: Report of two new cases and review of the literature
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P650: Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older?
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P822: Navigating genetic risk: Mapping variant's probability of occurring de novo and inferring their effect sizes on neurodevelopmental symptoms
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P485: Navigating the genetic odyssey: Enhancing early recognition and referral for precise diagnosis through human phenotype analysis
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P019: Navigating the landscape of newborn screening for inborn errors of metabolism in Saudi Arabia: Challenges, achievements, and future prospects
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P310: NCOR2 is candidate gene for neurodevelopmental disorder including autism
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P290: Neonatal encephalopathy: Identification of underlying genetic causes
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P466: Neurodevelopmental diagnoses in oculocutaneous albinism type II
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P134: Neuronal pathways by differential tractography correlate with clinical outcomes following gene therapy for GM1 gangliosidosis: New biomarker for neurodegenerative diseases*
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P671: New artificial intelligence-based computer-aided chromosome analysis and karyotyping: A pilot evaluation
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P507: Newborn genomic sequencing for Duchenne muscular dystrophy: Model-based insights
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P861: Newborn screening for Pompe disease in South Florida: The clinical experience
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P536: Newborn screening using CK-MM: Preferences of newborn screening professionals after an initial positive screen for Duchenne muscular dystrophy
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P569: NextGen training of medical professionals for evolving genomic interventions
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P229: Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter
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P800: Non-mosaic trisomy 9: Prenatal and fetal autopsy findings with further delineation of the clinical phenotype
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P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing
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P787: Not through with 22q: Case series of false negative cfDNA results and the importance of a priori risk on NPV
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P433: Novel and very rare causative variants in the transglutaminase-1 gene of Vietnamese patients with lamellar ichthyosis
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P272: Novel biallelic missense variants in C2orf69 cause combined oxidative phosphorylation deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation
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P693: Novel combined molecular diagnosis of rare digynic triploidy in preterm neonates
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P367: Novel CYP19A1 variant in a male with overgrowth, unilateral foot drop, and nephrolithiasis: Expansion of clinical features in aromatase deficiency
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P422: Novel familial variants in the TDGS gene associated with Catel-Manske syndrome and distinct phenotypes between male siblings
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P349: Novel genetic factors regulating human spermatogenesis
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P120: Novel genomic rearrangement leading to MYC over expression in the genomic setting of a pseudo-triple-hit diffuse large B-cell lymphoma
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P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification
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P747: Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks
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P789: Novel markers of pyruvate dehydrogenase complex deficiency on fetal brain MRI
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P368: Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association
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P738: Novel PIGA-related disorder gene variant: Whole exome sequencing, postmortem sample analysis, and updated variant classification solves 20+ year diagnostic odyssey
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P313: Novel presentation of Costello syndrome with urinary tract involvement In early infancy
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P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly
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P444: Novel RET variant in two unrelated patients with Hirschsprung disease and congenital anomalies of kidney and urinary tract
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P420: Novel SLC26A2 variants in two adults with autosomal recessive multiple epiphyseal dysplasia type 4: Informed by genotype-phenotype correlation
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P848: Novel structural variant in PDGFB-associated with ectopic intracerebral calcifications
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P755: Novel SYCP2 variants in Chinese patients further define the relationship between SYCP2 and autosomal dominant oligoasthenozoospermia
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P464: Novel variant in WARS2 gene: Clinical evaluation and genotype-phenotype of a Parkinsonism neurodevelopmental disorder
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P456: Novel variant of unknown significance in RYR2 in a patient with suspected catecholaminergic polymorphic ventricular tachycardia: A case to reclassify
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P315: Novel variants in the CACNA1B gene: A case presentation of neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
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P324: Ocular findings as the most striking manifestation of a SMAD3 variant
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P245: Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations
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P191: Old school and new findings: Expansion and delineation of the dysmorphological phenotype of Fanconi anemia
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P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel
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P608: Optical genome mapping for genome-wide structural variation analysis in hematologic malignancies: Prospective study to determine impact on diagnosis and management
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P772: Optimal amniotic fluid volume required for direct chromosomal microarray analysis
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P858: Optimism and pessimism about genome sequencing in pediatric health care: Preliminary findings in the BabySeq Project*
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P492: Optimizing access to genetics services for individuals with autism spectrum disorder through a “genetic-counselor-first” assessment model
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P500: Optimizing consent: An analysis of recruitment data for the first 11,000 consented ScreenPlus parents
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P618: Optimizing diagnostic potential: Impact of familial sample configurations on exome sequencing
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P852: Optimizing RNA extraction methods for high throughput transcriptome sequencing from FFPE cardiac tissue
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P001: Outcomes In 14 live births resulting from pegvaliase-treated pregnancies in females with PKU*
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P356: Overlapping movement disorder phenotypes are a hallmark of leukoencephalopathy with calcifications and cysts
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P385: PACS2-related developmental and epileptic encephalopathy: A review of molecular mechanisms and clinical aspects of a rare genetic disorder
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P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes*
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P874: Parental perspectives and experiences on the implications of expanded and universal newborn screening
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P480: Parent and healthcare personnel perspectives on challenges to family-centered care for children with inherited metabolic diseases: A qualitative analysis
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P301: Pathogenic NOTCH1 variation displays a spectrum of cardiac and extra-cardiac anomalies
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P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly
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P517: Patient and clinician perspectives on a digital health platform for the longitudinal management of genetic cancer predisposition
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P457: Patient with galactosemia and primary ovarian insufficiency undergoes IVF with oocyte retrieval prior to conceiving spontaneously
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P600: pb-StarPhase: A phase-aware pharmacogenomic diplotyper for long-read sequencing data
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P489: Pediatric exome sequencing compared with standard genetic testing: An analysis of private payer claims data
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P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial
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P856: Perceptions of family health history in an East Baltimore community*
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P624: Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru
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P655: Performing long-read sequencing from dried blood spot cards
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P688: Performing NGS testing for myeloid malignancies in an academic medical center improves turnaround time and cost
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P144: Persistence of growth-promoting effects in children with achondroplasia up to 7 years: Update from phase 2 extension study with vosoritide*
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P131: Persistence of growth-promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide*
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P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study*
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P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life*
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P522: Personalized prescriptions: Potential clinical impact of pharmacogenetic screening
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P710: Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank
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P216: Phenotype and genotype of Vietnamese patients with X-linked adrenoleukodystrophy
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P207: Phenotype-driven algorithms for enhanced rare disease diagnostics
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P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders
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P017: Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns
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P136: Phenotypic characterization and genetic interrogation of patients with cleidocranial dysplasia*
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P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome*
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P317: Phenotypic variability among three family members with RAD21 Cornelia de Lange syndrome
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P018: Phenylketonuria families and researchers evaluating evidence (PHEFREE), the NIH Rare Disease Consortium for PKU
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P336: PIK3CA-overgrowth in a patient with Down syndrome: Rare coexistence and its management implications
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P534: Piloting an Australian quality assurance program interpretive module for genomic testing
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P307: Pioneering integrated hereditary prostate genetic testing service in a physician office laboratory
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P233: PKD1 hypomorphic variant in a girl with tuberous sclerosis complex and polycystic kidneys
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P820: Place hereditary angioedema in the radar of pediatricians through an innovative education program and measure impact with real world evidence*
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P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease
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P711: PMS2 in somatic oncology testing: Real or pseudogene interference?
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P530: Point-of-care genetic testing with paired E-consult: An effective alternative service delivery model for patients with breast cancer
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P089: POLE and brain tumors: Case report and review of the medical literature
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P235: Polycystic kidney disease and hepatic fibrosis: Phenotypic expansion of Sotos syndrome
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P627: Pool of normal optimization for NGS-based CNV calling in a clinical setting
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P303: Population prevalence of sex chromosome trisomy varies by genetic ancestry
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Davis, Shanlee
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P831: Positive allosteric modulation in treatment of GRIN1 gene related neurodevelopmental disorders: Promises and challenges
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P325: Postnatal progressive craniosynostosis: An unusual presentation leading to cascade diagnosis for multiple generations
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Ogawa, Jessica
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P461: Potential founder effect in PPT1 in CLN1 disease in Mexican-Mestizo population
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Contreras-Capetillo, Silvina
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P007: PP4 criteria specifications for proximal urea cycle disorders*
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Simpson, Kara
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| 675 |
P793: Pre- and post-implementation of protocol for genetics evaluation for intrauterine fetal demise at Texas Children’s Hospital
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Mizerik, Elizabeth
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P173: Precision animal modeling and VUS-resolution in a novel AXIN2-related disorder
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Burrage, Lindsay
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P474: Precision child health: Integrating a consultative pharmacogenetics (PGx) program into clinical care at the Hospital for Sick Children*
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Cohn, Iris
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P147: Precision medicine approaches to treatment for HNRNPH2 mutations*
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Zhu, Huiping
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P496: Predictors of genetic counseling uptake when using a family health history platform for hereditary cancer risk
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Sadeghpour, Azita
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| 680 |
P784: Prenatal and perinatal features of a type 2 collagenopathy and COL2A1 variant
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McNamee, Lisa
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| 681 |
P697: Prenatal diagnosis and postnatal clinical course of a fetus with low-level mosaic trisomy 17q
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Ghasemi, Reza
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| 682 |
P796: Prenatal diagnosis of a novel biallelic ARFGEF1-related disorder due to uniparental Isodisomy: A case report
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Coltri, Julia
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| 683 |
P804: Prenatal diagnosis of atypical Holt-Oram syndrome caused by a novel inherited intragenic TBX5 duplication: A rare mechanism with variable expressivity
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Mackley, Michael
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| 684 |
P798: Prenatal diagnosis of GATA6-related disorder in a maternal-fetal dyad: The value of prenatal diagnosis in complex decision-making
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Ho, Wendy
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| 685 |
P806: Prenatal diagnosis of maternal uniparental disomy of chromosome 20: A case report and review of the literature
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Urbina, Catherine
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P815: Prenatal diagnosis of tetrasomy 21: Case reports
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Byerly, Kyna
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P732: Prenatal diagnostic genetic testing in 2023: The experience of a medical center-affiliated cytogenetics laboratory
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Rafferty, Kelly
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P811: Prenatally diagnosed ring chromosome 18: A case report
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Nelson, Corrine
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| 689 |
P737: Prenatal phenotype and female congenital genital malformation caused by a novel KDM6A mutation in a three-generation pedigree
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An, Yu
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P781: Prenatal whole exome sequencing: Diagnostic yield, syndromic landscape, and incidence and uptake of secondary findings
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Avello, Kayleigh
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P514: Preparation to use a genetic risk score to screen newborns for type 1 diabetes risk in Early Check
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Cope, Heidi
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P382: Presentation of dual molecular diagnoses of two patients with neurodevelopmental disorder
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Ercelen, Defne
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| 693 |
P083: Prevalence and penetrance of LZTR1 pathogenic variants: To screen or not to screen?
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Shehayeb, Susan
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| 694 |
P148: Prevalence, diagnostic features, and medical outcomes of females with mosaic Turner syndrome (45,X/47,XXX): Results from the InsighTS Registry*
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Klamut, Natalia
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| 695 |
P181: Prevalence of and risk factors for autism spectrum disorder in individuals with Turner syndrome: Results from the InsighTS Registry
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Bettencourt, Megan
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P204: Primary care electronic medical record features predicting genetics referrals
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Hernandez, Cristal Hernandez
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| 697 |
P196: Primary care precision medicine clinic: A retrospective analysis of patient trends, testing modalities, and evolving visit models from 2019-2023
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Dreikorn, Erika
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P513: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using an EHR-agnostic tele-engagement platform
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Vuocolo, Blake
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| 699 |
P042: Prolonged survival of a patient with combined oxidative phosphorylation deficiency 11 secondary to biallelic variants in the RMND1 gene
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Fraustro, Milena
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P379: Proposing pathogenicity of an SGCE variant of unknown clinical significance in a 17-year-old with new onset dystonia
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Joseph, Abrianne
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P551: Provider perspectives on genomic care in safety-net neonatal intensive care units
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Wojcik, Monica
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P337: Psychosocial adjustment and distress in neonatal vs adolescent diagnosis of SRY–related gonadal dysgenesis: Two illustrative cases
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Leonard, Jacqueline
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P468: 22q11DS with maternal mosaic nonoverlapping isodicentric 22q11 duplication
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Spahr, Zachary
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| 704 |
P754: 2q22.1q22.3 microdeletion: A case report and literature review
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Xi, Yanwei
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| 705 |
P891: Quality-of-life and healthcare accessibility in Native American myopathy: Study design, demographics, diagnosis, and chronic health conditions of enrolled subjects
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Wang, Magnolia
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| 706 |
P870: Racial disparity in the diagnosis of mitochondrial disease
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McGinn, Daniel
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P853: Racial, ethnic, and socioeconomic disparities in general genetics evaluation and testing in the adult population*
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Gold, Jessica
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P392: Rapid complement mediated TMA diagnosis and early intervention in a renal intensive care unit using Nanopore technology
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Yousfi, Nadhi
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P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype
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Rust, Laura
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| 710 |
P437: Rapid genome sequencing detects complete paternal UPD6 leading to diagnosis of transient neonatal diabetes mellitus with prompt treatment and counseling
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Hughes, Hannah
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| 711 |
P425: Rare case of double aneuploidy chromosomes 20q-21q: The importance of precision medicine in the new era
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Moreno-Giraldo, Lina
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P805: Rare clinical gene variant of GBE1: Glycogen storage disease IV
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Miller, Megan
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| 713 |
P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey
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Coleman, Jessica Cooley
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| 714 |
P865: Rare disease narratives on social media
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Scott, Cassidy
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P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat
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Waskow, Emily
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| 716 |
P347: RareResolve: Gene-humanized animal models for resolving pathogenicity in variants of uncertain significance (VUS)
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Hopkins, Christopher
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| 717 |
P099: Rare within the rare: A case of young-onset meningioma revealing the diagnosis of BAP1-tumor predisposition syndrome
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Manookian, Rachelle
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P611: Real-world comparison of HLA callers from exome sequencing data
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Lin, Yi-Lin
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| 719 |
P716: Real-world implications of new population genomic datasets for clinical variant interpretation
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Kumar, Runjun
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| 720 |
P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*
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Spector, Emily
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| 721 |
P197: Reclassification of variants following renal genetics testing: Uncommon yet impactful for diagnosis and management
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Lim, Euyn
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| 722 |
P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1
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Mohan, Shruthi
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| 723 |
P473: Reconciling medical genetics educational competencies and closing gaps in undergraduate medical education*
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Burnside, Rachel
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| 724 |
P095: Recontacting patients with a CHEK2 or ATM pathogenic variant for updated NCCN screening guidelines: Report from an NCI-designated cancer center
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Neimeyer, Katie
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P841: Recruitment, consent and DNA sample acquisition in a US precision health cohort during the COVID-19 pandemic
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Derry, Allyson
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| 726 |
P423: Recurrent pulmonary hemorrhages as a presenting symptom of congenital dysfibrinogenemia in a hospital patient identified from rapid whole genome sequencing
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Hart, Rachel
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| 727 |
P594: Reducing disparities in cystic fibrosis newborn screening in New York State
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Kay, Denise
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| 728 |
P034: Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population
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McNutt, Markey
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| 729 |
P859: Reframing the narrative on incompatible with life in trisomy 18 and 13*
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Bruns, Deborah
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| 730 |
P344: Renal failure in an infant with PAX2 whole-gene duplication
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Zuhdi, Kareem
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| 731 |
P572: Repeated exome reanalysis is most impactful after two years and the majority of new findings are in neurodevelopmental genes*
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Li, Megan
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| 732 |
P286: Report of individual diagnosed with MPS type 1 attenuated form in late adulthood
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Lea, Jenna
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| 733 |
P431: Respiratory distress in the setting of a right diaphragmatic eventration in a newborn with a pathogenic FLNA gene variant
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Fraustro, Milena
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| 734 |
P060: Response to intravenous citrate on a patient on CKRT with pyruvate carboxylase deficiency type B (severe neonatal form)
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Celin, Mercedes Rodriguez
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| 735 |
P090: Results from the Genetic Risk Analysis in Ovarian Cancer (GRACE) study
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Rope, Alan
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| 736 |
P122: Retinoblastoma discordant monozygotic twins and the discovery of an intron 15 RB1 variant
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Jessen, Jaime
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| 737 |
P087: Retrospective analysis of comprehensive cancer panel sequencing at Fox Chase Cancer Center to evaluate the QIAGEN Clinical Insight Interpret database
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Guo, Tingwei
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| 738 |
P359: Retrospective analysis of non-ketotic hyperglycinemia patients in Central and Eastern Kentucky
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Reeves, Shane
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| 739 |
P126: Retrospective study of the impact of Endopredict: Experience from a hospital center
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Amorim, Marta
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| 740 |
P523: Returning all clinically relevant findings from genomic sequencing: Preliminary results from the incidental genomics RCT
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Bombard, Yvonne
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| 741 |
P064: Returning genomic risk for hereditary breast and ovarian cancer: Clinical outcomes through standard of care vs research return of results*
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Abbasi, Ilham
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| 742 |
P881: Revealing the hidden costs: Exploring the financial toxicity of hereditary cancer syndromes
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Rajeziesfahani, Sepideh
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| 743 |
P211: Review of genomic test orders for pediatric inpatients receiving exome and genome sequencing
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Streff, Haley
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| 744 |
P504: Risk management for pediatric patients with clinically actionable pathogenic and likely pathogenic variants with onset throughout the lifespan
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Urban, Gretchen
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| 745 |
P605: RNA sequencing as a second-line test for rare disease
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Marshall, Aren
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| 746 |
P764: RNA sequencing improves assessment of variants of uncertain significance from fetal genome and exome sequencing*
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Rehman, Atteeq
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| 747 |
P403: Role of comprehensive renal genetic testing in diagnosing a RMND-1 mitochondrial disease in two adult cases exhibiting variable disease phenotypes
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Stein, Quinn
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| 748 |
P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis
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Pickup, Elizabeth
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| 749 |
P355: Rubinstein-Taybi syndrome: Typical and atypical, Nemours experience and beyond
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Bhat, Gifty
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| 750 |
P283: SATB1-related disorder secondary to chromothripsis
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Kacpura, Abigail
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| 751 |
P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing*
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Manders, Toby
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| 752 |
P419: Schaaf-Yang syndrome: A rare syndrome resulting from a de novo pathogenic variant in MAGEL2 on 15q11
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Eckert, Kathryn
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| 753 |
P475: Secondary findings analysis in the personalized environment and genes study: Reduced return in disorders with autosomal recessive inheritance pattern*
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Johnston, Jennifer
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| 754 |
P277: Second individual with craniosynostosis and microdeletion including 14q22: Premature fusion of cranial sutures and copy number variation
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Rapoza, Rebekah
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| 755 |
P680: Segregation outcomes of embryos undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) in the setting of a familial reciprocal translocation
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Klavanian, Jeannie
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| 756 |
P152: Seizure severity across neurogenetic conditions in Simons Searchlight*
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Kowanda, Michelle
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| 757 |
P709: Self reported vs genetic ancestry from the GENCOV COVID-19 genomic sequencing study
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Frangione, Erika
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| 758 |
P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences
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Dipple, Katrina
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| 759 |
P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates
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Wenger, Tara
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| 760 |
P777: Severely elevated bile acids in pregnancy and no-call result on prenatal cell-free DNA screening
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Curtin, Anna
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| 761 |
P278: Severe secretory diarrhea investigated by genome sequencing and RNA-seq yields ultrarare diagnosis of trichohepatoenteric syndrome (THES)
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Yurkoski, Jacqueline
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P762: Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders*
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Liscovitch-Brauer, Noa
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| 763 |
P892: “Should I let them know I have this?”: Concerns and experiences of genetic discrimination amongst individuals with hereditary cancer syndromes
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Gopalakrishnan, Ridhi
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P023: Siblings with autism and asparagine synthetase deficiency: A phenotypic expansion of the condition’s neurodevelopmental profile
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Stackhouse, Ashlyn
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P106: Single-cell and spatial transcriptomics integrated with bulk RNA-seq, uncovers differences in bidirectional tumor-macrophage crosstalk in IDHwt and IDHmut gliomas
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Motevasseli, Meysam
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P450: Single cell RNA-seq analysis of skin tissue from individuals with hypermobile Ehlers-Danlos syndrome
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Galindo, Maureen
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P720: Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon
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Moe, Madison
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P667: Single gene deletion of FGF3 in a patient with features of 11q13 microdeletion syndrome
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P343: Skeletal anomalies in RAD21-associated Cornelia de Lange syndrome: Two additional cases
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Bunch, Miriam
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P257: Sleep correlates of behavior functioning in Cornelia de Lange syndrome
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Ng, Rowena
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P505: Sleeping giant: Underrecognized clinical genetics programs across the vast Veterans Affairs (VA) Network
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Eble, Tanya
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P218: SMAD6 variants in congenital heart disease
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Schwartz, Marci
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P719: SMN1 deletion and silent carrier screening for spinal muscular atrophy
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San Lai, Poh
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P167: Snyder-Robinson syndrome: An ultrarare polyamine multisystemic disorder presenting in a craniofacial clinic*
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Weisshappel, Kaitlin
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P838: Spectrum of short tandem repeats in Taiwanese population
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Hsu, Ching
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P478: Streamlining precision medicine: Cancer predisposition germline testing in a large, integrated health system
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P735: Structural variant analysis unveils loss-of-function promoter deletion in candidate gene WDR44
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P657: Structural variants identified by short-read genome sequencing solves missing heritability in retinal dystrophies
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| 779 |
P462: Student experiences and reflections on rotations with co-supervision
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Francisco, Elizabeth
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P851: Successful (and unsuccessful) recruitment approaches and participant loss in a Down syndrome survey
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| 781 |
P574: Summary of findings from comprehensive genome sequencing performed in a healthy population cohort*
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| 782 |
P424: Suspected CYP26B1-related disorder in a Mixtec patient with craniosynostosis and skeletal anomalies: A case report and literature review
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| 783 |
P028: Switching treatment to cipaglucosidase alfa+miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease
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P188: Synchronized long-read genome, methylene, epigenome, and transcriptome for a putative small fiber peripheral polyneuropathy research study
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Glanz, Max
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P102: Systematic characterization of cancer ecosystem evolution
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Cariba, Solsa
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P584: Systematic review and reclassification of 20 years of RB1 single nucleotide and copy number variants
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P243: TERC variant of uncertain significance associated with bone marrow failure and cirrhosis: Exposing barriers to TERC classification
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P399: Terminal 7q deletion: How does inferior cerebellar vermis hypoplasia translate to pathology in a clinical setting?
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Aggarwal, Priya
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P731: TERT gene promoter region mutation analysis in glioma using multiplex SNaPshot method
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Cai, Li
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P613: The addition of exome-wide CNV analysis to multi-gene panels contributes to positive yield
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Talsness, Dana
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P788: The ADGRA2 gene is associated with multiple fetal brain anomalies in humans
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Chong, Karen
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| 792 |
P155: The ClinGen framework for naming monogenic diseases*
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Thaxton, Courtney
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| 793 |
P179: The ClinGen Pharmacogenomics Working Group: Developing frameworks for evaluating pharmacogenomic gene validity and actionability
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Gong, Li
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P846: The ClinGenRecs web portal: Streamlining access to medical genetics resources and tools
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Muchmore, Brian
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P595: The ClinGen Syndromic Disorders Gene Curation Expert Panel
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O'Donnell-Luria, Anne
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P614: The clinical genome: Validation data beyond clinical exome
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Tripolszki, Kornelia
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P482: The clinical utility of genome-wide sequencing for rare disease: A multidimensional map
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Hayeems, Robin
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P065: The clinical utility of plasma circulating tumor DNA in the diagnosis and disease surveillance in non-DLBCL non-Hodgkin’s lymphomas*
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Zhu, Minyi
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| 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)
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Dolman, Lena
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| 800 |
P547: The clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing content validity for a new measure for sequencing-based newborn screening
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Luca, Stephanie
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| 801 |
P416: The conundrum of cardiovascular imaging and genetic testing in the context of nonspecific connective tissue findings
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Powell-Hamilton, Nina
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| 802 |
P270: The diagnostic dilemma of tissue specific mosaicism: A case of mosaic supernumerary chromosome 8 detected via buccal sample
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Hubbel, Alexandra
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| 803 |
P418: The diagnostic journey of Mexican patients with Verheij syndrome
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Cifuentes-Uribe, Karla
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| 804 |
P186: The earliest sign of hypogonadotropic hypogonadism: The importance of genetic screening and evaluation in individuals with microphallus
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Leonard, Jacqueline
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| 805 |
P267: The essential role of genetic testing in the phenotypic heterogeneity of Stargardt disease
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Nalamalapu, Rithvik
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| 806 |
P112: The expression profile of SLCO genes in hepatocellular carcinoma and their association with clinical outcomes
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Chen, Hubert
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| 807 |
P159: The eXtraordinarY Babies Study: Familial and perinatal predictors of 36-month language outcomes in prenatally diagnosed sex chromosome trisomy*
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Tartaglia, Nicole
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| 808 |
P269: The genetic prevalence of molybdenum cofactor deficiency as a result of MOCS1 and MOCS2: A genetics and biostatistics perspective
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Patel, Ishita
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| 809 |
P516: The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing
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Clausen, Marc
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| 810 |
P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank
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Gandhi, Geethanjali Devadoss
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| 811 |
P493: The "Goldilocks" panel: Determining the optimal number of genes for reproductive genetic carrier screening
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Burnett, Leslie
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| 812 |
P827: The Greenwood Genetic Center's approach to developing the future genetics workforce
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Tribble, Leta
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| 813 |
P518: The impact of mainstreaming general genetic testing on patient wait-times
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Guerin, Andrea
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| 814 |
P417: The importance of genetic counseling for families with hyperinsulinism
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Sanders, Victoria
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| 815 |
P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program
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Xicola, Rosa Munoz
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| 816 |
P717: The landscape of clinical geneticists’ perspectives and practices in India
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Patil, Sushma
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| 817 |
P882: The long and winding road of biomarker legislation
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Peck, Katlin
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P524: The mainstream model improves equitable access to germline testing for Veterans Affairs patients with advanced prostate cancer
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Scheuner, Maren
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| 819 |
P309: The missing patella; A rare case of unilateral patellar agenesis in autosomal dominant osteo-onychodysplasia
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Seylani, Allen
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| 820 |
P586: The qMini assay identifies an overlooked class of splice variants
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Guan, Bin
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| 821 |
P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*
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Austin-Tse, Christina
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| 822 |
P308: The scope of incorporating preemptive pharmacogenomics testing for public healthcare
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Sheng, Joy
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P154: The second known case of CNP-related hypomyelinating leukodystrophy is diagnosed by RNA-seq and demonstrates an abnormal blood methylation profile*
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Farris, Joseph
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P520: The Translational Genomics Hub (TGH): A new precision medicine tool at the University of Alberta
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Caluseriu, Oana
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P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot)
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Liaqat, Khurram
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P410: Think beyond a unifying diagnosis: A case of dual diagnoses of Klinefelter syndrome and DYNC1H1-related disorder
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Fafoutis, Eleni
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| 827 |
P373: Third patient with biallelic variants in SMAD6 with an overlapping phenotype: Delays, dysmorphic features, and cardiovascular problems
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Leon, Eyby
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P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum
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Lacaria, Melanie
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P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians
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Mehta, Lakshmi
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P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing*
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Pizzo, Lucilla
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P066: TP53 variant characteristics and phenotypes of 96 families evaluated at an academic medical center*
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Chase, Colby
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P855: Traceback testing for ovarian cancer: Implementer and participant perspectives*
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Henrikson, Nora
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P328: Transcription factor HAND2 in syndromic congenital heart disease
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Moccia, Amanda
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P107: Transgenic lines to investigate the impact of IL7Rα gain-of-function mutation during hematopoietic development in zebrafish embryos
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Figueira de Paula Pinto, Hugo
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P232: Translational advancements in Cockayne syndrome: Preparing for an AAV-mediated hERCC8 gene therapy trial
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Thompson, Robert
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P038: Trimethylaminuria: Investigations of patient and healthcare provider experiences
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Kirk, Jillian
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P129: Trio-based whole exome sequencing reveals novel pathogenic variants in TMPRSS7 associated with neurodevelopmental disorders*
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Lu, Weiliang
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P769: Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies
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Gershon, Ariel
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P279: Triple diagnosis of X-linked chondrodysplasia punctata, MECP2-related disorder, and mosaic Jacobs syndrome in a male infant via rapid WGS
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Shields, Kathleen
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P266: Trisomy 5p: Long recognized, rarely published
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Kim, Gabriela
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P802: Trisomy 22 with 80% mosaicism: A case report
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Root, Emily
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P222: TTN truncating variants are enriched in cardiomyopathy/arrhythmia and neuromuscular cases and M-band exon 358 contributes to primary cardiomyopathy/arrhythmia
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Regalado, Ellen
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P542 :Twenty years of newborn and carrier screening in the Old Order Amish population of Southwestern Ontario: Evolution and evaluation
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Abbott, Jamie
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P118: Two cases of angiocentric glioma with MYB::QKI fusion in a single institution
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Kumar, Deepak
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P783: Two fetuses with hereditary hemorrhagic telangiectasia presenting with rare finding of arteriovenous malformations
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Burrill, Natalie
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P332: Two independent molecular diagnoses of Loeys-Dietz syndrome in a sibship and their children: A case report
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Coleman, Tanner
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P176: 20,000 type 1 diabetes (T1D) exome cohort In Ukraine
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Shchubelka, Khrystyna
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P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders
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Nallamilli, Babi Ramesh Reddy
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P515: Uncertainty and information management for Lynch syndrome in a genomic screening cohort: Connections to clinical engagement
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Hallquist, Miranda
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P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
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Kanavy, Dona
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P111: Uncovering a late diagnosis: A case study on 22q11.2 deletion in an adult with hypoparathyroidism
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Benyahia, Steven
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P743: Uncovering hidden complex structural mechanisms: Conventional karyotype as a complement to chromosomal microarray
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Haines, Katherine
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P358: Uncovering the clinical spectrum of citrin deficiency in Korea: Insights from a study of 30 patients
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Ko, Jung Min
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P174: Understanding patterns in variants of uncertain significance to facilitate reclassification using machine-learning based variant effect predictors
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Zhang, Cindy
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P877: Understanding the advantages of translating educational materials for the Clinical Genome Resource
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Cordova, Ineke
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P053: Understanding the measurement of nicotinamide adenine dinucleotide (NAD+) from dried blood spots through a population study
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Smith, Sara
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P210: Unexpected recurrence of vascular Ehlers-Danlos syndrome in sibships due to parental mosaicism for COL3A1 variants
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Conner, Kenzie
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P842: Unified comprehensive analysis of NGS and optical genome mapping data for constitutional applications using Bionano VIA software
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Norgaard, Zachary
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P548: Universal germline genetic testing for breast cancer at the Princess Margaret Cancer Centre
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Peck, Larissa
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P644: Unlocking the code: When SpliceAI falls short in variant assessment
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Grzybowski, Jessica
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P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG
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Saravanan, Deepika Pugalenthi
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P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis
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Pan, Yinghong
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P662: Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome
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Ma, Deqiong
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P471: Uptake of a chatbot for disclosure of germline genetic test results through a universal genetic testing program*
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Zukin, Elyssa
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P027: Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: A retrospective investigation
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Stander, Zinandre
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P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy*
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White, Amy
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P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype
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Man, Alice
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P380: Use of dextrose containing fluids and intralipids in a patient with KCNA1 related neuromyotonia
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Patton, John
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P469: Use of multigene panel advantages in clinical suspicion of neurofibromatosis type 1: Case series
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Aguilar, Dione
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P499: US genetics professional workforce in 2023
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Lyon, Megan
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P545: Using direct messaging for patient engagement in inherited cancer risk management: A pilot intervention
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Choi, Sarah
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P224: Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism
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P578: Using the large-language model GPT4 to programmatically determine functional evidence supporting or refuting variant pathogenicity from literature*
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Lebo, Matthew
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P779: Utility and diagnostic yield of prenatal skeletal dysplasia panel testing
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Shaw, Jay
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P603: Utility of cytogenomic SNP microarray for bone marrow failure syndrome patients
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Pizzo, Lucilla
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P763: Utility of genetic evaluation of congenital posterior fossa anomalies*
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Lee, Ingrid
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P625: Utility of highest pathogenic variant frequency approach for application of BA1/BS1 ACMG criteria to reduce variants of uncertain significance
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Salsbery, Kyle
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P071: Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories
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Hamilton, Sarah
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P645: Utility of RNAseq in a cohort of undiagnosed congenital myopathy patients: A case series
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Genetti, Casie
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P786: Utility of whole exome sequencing in desperate prenatal patients
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Savasan, Zeynep Alpay
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P519: Utilization of one month follow-up to increase uptake of genetic counseling appointments in a healthcare-based population genomic screening cohort
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P097: Validation of a clinical test for genome-wide homologous recombination deficiency signatures in solid tumors
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P782: Validation of low-pass genome sequencing for prenatal diagnosis
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Mighton, Chloe
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P312: Value of early evaluations with comprehensive genetic testing in congenital heart disease and childhood onset heart failure: Case report
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Prakash, Supraja
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P687: Variant classification discrepancies in the ACADVL gene
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P649: Variant +7/-10 copy number alterations and their association with pathological features and prognosis in patients with glioblastoma
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Fang, Xiaolan
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P011: Variant interpretation in functionally defined patients: Lessons from methionine synthase deficiency (cblG)
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P091: Variants at variance: An assessment of discordant classifications and phenotypes among TP53 variants from the international LiFT UP study
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P404: Variants of uncertain significance in genes associated with inherited connective tissue disorders pose unique challenges
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Mazzella, Allison
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P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)
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P408: Vision and enamel anomalies in Jalili syndrome: Case study and genetic insights
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P289: Vitreoretinopathy is common in children with CTNNB1 mutations
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P259: What are the educational needs of caregivers of children with Pierre Robin sequence?
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Emerick, Katherine
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Chapman, Kimberly
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P291: Where are all the kids with fragile X syndrome? A retrospective study of the diagnostic odyssey in Georgia
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Black, Paige
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P704: Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family
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P264: Whole genome sequencing for the diagnosis of undiagnosed global developmental delay
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Jang, Dae-Hyun
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Foreman, Ann Katherine
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Saei, Hassan
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Richardson, Kate
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P790: Yield of exome sequencing in congenital brain malformations identified on fetal MRI
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Fortin, Olivier
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Table of Contents
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