Genetics in Medicine
Papers 3501
1 page of 351 pages (3,501 results)
#1Timothy D. Wiltshire (Mayo Clinic)H-Index: 5
#2Mandy Ducy (Laval University)H-Index: 1
Last.Alvaro N.A. MonteiroH-Index: 37
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Inherited pathogenic variants in PALB2 are associated with increased risk of breast and pancreatic cancer. However, the functional and clinical relevance of many missense variants of uncertain significance (VUS) identified through clinical genetic testing is unclear. The ability of patient-derived germline missense VUS to disrupt PALB2 function was assessed to identify variants with potential clinical relevance. The influence of 84 VUS on PALB2 function was evaluated using a cellular homology di...
#1Hila Fridman (HUJI: Hebrew University of Jerusalem)H-Index: 3
#2Doron M. BeharH-Index: 39
Last.Ephrat Levy-Lahad (HUJI: Hebrew University of Jerusalem)H-Index: 2
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Expanded preconception carrier screening (ECS) identifies at-risk couples (ARCs) for multiple diseases. ECS reports currently include only pathogenic/likely pathogenic variants (P/LPVs). Variants of unknown significance (VUS) are not reported, unlike genomic or chromosomal array test results in other post/prenatal settings. Couples who are P/LP and VUS carriers (P/LP*VUS) may be at risk, particularly in genes with high P/LP carrier rates. We examined the possible contribution of P/LP*cVUS (codin...
#1Paul S. Appelbaum (Columbia University)H-Index: 62
#2Erik Parens (Hastings Center)H-Index: 20
Last.Wylie Burke (UW: University of Washington)H-Index: 61
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The evolving evidence base for the interpretation of variants identified in genetic and genomic testing has presented the genetics community with the challenge of variant reinterpretation. In particular, it is unclear whether an ethical duty of periodic reinterpretation should exist, who should bear that duty, and what its dimensions should be. Based on an analysis of the ethical arguments for and against a duty to reinterpret, we conclude that a duty should be recognized. Most importantly, by v...
#1D. Kariyawasam (UNSW: University of New South Wales)
#2Jacqueline S. Russell (Boston Children's Hospital)
Last.Michelle A. Farrar (UNSW: University of New South Wales)H-Index: 13
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To evaluate the implementation of the first statewide newborn screening (NBS) program for spinal muscular atrophy (SMA) in Australia. Processes that hinder and support clinical development, translation, and sustainability of the first primary genetic screening program in Australia are appraised. The study prospectively describes the course (timelines, health processes, and preliminary clinical outcomes) for SMA screen-positive newborns from 1 August 2018 to 31 July 2019 in New South Wales and Au...
#1Hane Lee (UCLA: University of California, Los Angeles)H-Index: 32
#2Alden Y. Huang (UCLA: University of California, Los Angeles)H-Index: 11
Last.Rebecca Signer (UCLA: University of California, Los Angeles)H-Index: 3
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We investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from exome or genome sequencing for undiagnosed Mendelian diseases spanning a wide spectrum of clinical indications. From 234 subjects referred to the Undiagnosed Diseases Network, University of California–Los Angeles clinical site between July 2014 and August 2018, 113 were enrolled for high likelihood of having rare undiagnosed, suspec...
#1Scott D. Grosse (CDC: Centers for Disease Control and Prevention)H-Index: 45
#2Sonja A. Rasmussen (UF: University of Florida)H-Index: 62
#1Paul J. Azzopardi (U of T: University of Toronto)
#2Ross Upshur (U of T: University of Toronto)H-Index: 46
Last.Robin Z. Hayeems (U of T: University of Toronto)H-Index: 18
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Despite the public health successes of newborn bloodspot screening, uncertainty associated with variant forms of primary screening targets has led to discrepancies in medical management. This study explored health-care providers’ approaches to managing atypical forms of inherited metabolic diseases (IMDs) in the absence of evidence-based guidelines. Semistructured telephone interviews were conducted with metabolic specialists. 3-Methylcrotonyl CoA deficiency and variant forms of phenylketonuria,...