Showing results (81-90 of 151) with videos related to
Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2025
Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Joanne Ngeow, Jianbang Chiang, Esteban Astiazaran-Symonds, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variantsLucy Loong, Cankut Cubuk, Subin Choi, et al.The Lancet. Oncology|January 17, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort studyEllen R Copson, Tom C Maishman, Will J Tapper, et al.American Journal of Human Genetics|June 6, 2025
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientistsSophie Allen, Alice Garrett, Charlie F Rowlands, et al.Journal of Medical Genetics|July 15, 2026
Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary networkAlice Garrett, Sophie Allen, Charlie F Rowlands, et al.JAMA Network Open|September 16, 2025
Estimands for Clinical Effectiveness of Risk-Reducing Early Salpingectomy in Women With High Risk of Ovarian CancerJacqueline Sia, Emily F Lane, Caitlin T Fierheller, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2025
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancerSophie Allen, Charlie F Rowlands, Samantha Butler, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2022
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)Lucy Loong, Alice Garrett, Sophie Allen, et al.British Journal of Cancer|February 20, 2022
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health serviceEamonn R Maher, Julian Adlard, Julian Barwell, et al.Journal of Medical Genetics|November 21, 2022
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2Helen Hanson, Anjana Kulkarni, Lucy Loong, et al.Pageof 16