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                             71 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics Cameron, Jessie M.
2 C p.
 artikel
2 A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements Schuy, Jakob
2 C p.
 artikel
3 Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective Balakrishnan, Iswaree D.
2 C p.
 artikel
4 A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts Kim, Jung
2 C p.
 artikel
5 A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD Suga, Akiko
2 C p.
 artikel
6 A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship Austin, Rachel
2 C p.
 artikel
7 Applications of genome sequencing as a single platform for clinical constitutional genetic testing Yang, Yao
2 C p.
 artikel
8 ARID1B-related disorder in 87 adults: Natural history and self-sustainability van der Sluijs, P.J.
2 C p.
 artikel
9 Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease Findlay Black, Hailey
2 C p.
 artikel
10 A scoping review exploring cure definitions and language for inherited hemoglobinopathies Baffoe-Bonnie, Marilyn S.
2 C p.
 artikel
11 Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome Agustsson, Viktor Ingi
2 C p.
 artikel
12 Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome Elatrash, Citrine
2 C p.
 artikel
13 Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes Agaoglu, Nihat B.
2 C p.
 artikel
14 Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) Lesmana, Harry
2 C p.
 artikel
15 Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing Marquez, Jonathan
2 C p.
 artikel
16 Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population Campbell, Teresa
2 C p.
 artikel
17 Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity Hirschi, Owen R.
2 C p.
 artikel
18 Combining rare and common genetic variants improves population risk stratification for breast cancer Bolze, Alexandre
2 C p.
 artikel
19 Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy Olinger, Eric
2 C p.
 artikel
20 Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists Aarabi, Mahmoud
2 C p.
 artikel
21 Detection and characterization of copy-number variants from exome sequencing in the DDD study Danecek, Petr
2 C p.
 artikel
22 Editorial Board
2 C p.
 artikel
23 Expanded-access use of elamipretide in a critically ill patient with Barth syndrome Goldstein, Amy C.
2 C p.
 artikel
24 Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome Beauregard-Lacroix, Éliane
2 C p.
 artikel
25 Factors affecting couples’ decision making about expanded prenatal cell-free DNA screening Mumford, Kelsey
2 C p.
 artikel
26 Feasibility of an electronic patient-facing cancer family history tool in medically underserved populations Feigelson, Heather Spencer
2 C p.
 artikel
27 Frequency and reasons that parents decline genetic testing for critically ill neonates Callahan, Katharine Press
2 C p.
 artikel
28 Genetic counseling around the globe: A call for papers Ormond, Kelly E.
2 C p.
 artikel
29 Genetic counselors’ perspectives on genomic screening of apparently healthy newborns in the United States del Rosario, Maya C.
2 C p.
 artikel
30 Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing Li, Kun
2 C p.
 artikel
31 Genetic kidney disease has a higher likelihood and cost of inpatient admissions compared to other aetiologies Sowa, P. Marcin
2 C p.
 artikel
32 Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing Clausen, Marc
2 C p.
 artikel
33 Health-related quality of life in patients with diverse rare diseases: An online survey Rao, Anoushka
2 C p.
 artikel
34 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk Zalusky, Miranda P.G.
2 C p.
 artikel
35 Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8 Gagnon, Maryse
2 C p.
 artikel
36 Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma Shiga, Yukihiro
2 C p.
 artikel
37 Improvement of variant reclassification in genetic neurodevelopmental conditions Kowanda, Michelle
2 C p.
 artikel
38 Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum Green, Timothy E.
2 C p.
 artikel
39 Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans Sargen, Michael R.
2 C p.
 artikel
40 Informal prenatal genetic screening education: What can you learn from Google and YouTube? Johnson, Erin P.
2 C p.
 artikel
41 Integration of validated functional evidence to support the pathogenicity of KCNH2 variants Aljassar, Reema W.
2 C p.
 artikel
42 Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida Wolujewicz, Paul
2 C p.
 artikel
43 Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders Copeland, Harriet
2 C p.
 artikel
44 Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America Llerena Jr, Juan
2 C p.
 artikel
45 Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease Tumulak, Ma-Am Joy R.
2 C p.
 artikel
46 Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome Kawai, Tomoko
2 C p.
 artikel
47 Masthead
2 C p.
 artikel
48 Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder Ivaniuk, Alina
2 C p.
 artikel
49 Next-generation variant exon screening: Moving forward in routine genetic disease investigations Wang, Conghui
2 C p.
 artikel
50 Non-RB1 germline cancer predisposing variants found in retinoblastoma patients Rodriguez Barreto, Ana Maria
2 C p.
 artikel
51 PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients Cappadocia, Jacqueline
2 C p.
 artikel
52 Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing Evans, D. Gareth
2 C p.
 artikel
53 Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations Sedillo, Joni C.
2 C p.
 artikel
54 Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion Kerman, Benjamin J.
2 C p.
 artikel
55 Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study Laney, D.A.
2 C p.
 artikel
56 Racial segregation and genomics-related knowledge, self-efficacy, perceived importance, and communication among medically underserved patients Bather, Jemar R.
2 C p.
 artikel
57 Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits Nicoletti, Paola
2 C p.
 artikel
58 Returning actionable genetic results to participants in the biobank at the Colorado Center for Personalized Medicine and UCHealth Lowery, Jan T.
2 C p.
 artikel
59 Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry Llorin, Hannah
2 C p.
 artikel
60 Table of Contents
2 C p.
 artikel
61 The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors Deignan, Joshua L.
2 C p.
 artikel
62 The impact of home-based call on sleep patterns and wellness in genetics and metabolism physicians compared with subspecialists Quintana, Kiley Boone
2 C p.
 artikel
63 The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency Kumar, Monica
2 C p.
 artikel
64 The impact of the Turkish population variome on the genomic architecture of rare disease traits Coban-Akdemir, Zeynep
2 C p.
 artikel
65 Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports Ferreira, Elise A.
2 C p.
 artikel
66 Tracking updates in clinical databases increases efficiency for variant reanalysis Li, Lele
2 C p.
 artikel
67 Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) Selvam, Pavalan
2 C p.
 artikel
68 Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions Hannah, William B.
2 C p.
 artikel
69 Using visual storytelling to share aggregate findings with families participating in clinical genomics research Zamora, Astrid N.
2 C p.
 artikel
70 Variant reclassification and recontact research: A scoping review Thummala, Abhinav
2 C p.
 artikel
71 Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) Lander, Julie M.
2 C p.
 artikel
                             71 gevonden resultaten
 
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