Showing results (521-530 of 556) with videos related to

Sort By:
Pageof 56
Human Molecular Genetics|March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplicationsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
American Journal of Medical Genetics. Part A|February 19, 2016
Generating a taxonomy for genetic conditions relevant to reproductive planningDiane M Korngiebel, Carmit K McMullen, Laura M Amendola, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 8, 2024
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementationHeidi L Cope, Laura V Milko, Elizabeth R Jalazo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
American Journal of Human Genetics|May 30, 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome ResourceNatasha T Strande, Erin Rooney Riggs, Adam H Buchanan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome regionJonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.
Medrxiv : the Preprint Server for Health Sciences|April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Journal of Clinical Medicine|May 14, 2025
Cardiometabolic Risk in Chronic Spinal Cord Injury: A Systematic Review with Meta-Analysis and Temporal and Geographical TrendsGary J Farkas, Lizeth J Caldera, Daniel D Hodgkiss, et al.
Pageof 56