Concepedia

Gabriele Richard

GR

Statistics

Publications

77

Citations

8.6K

H-Index

47

Active since

1991

Affiliations

Thomas Jefferson University(Current)

Jefferson Institute

Rambam Health Care Campus

Technion – Israel Institute of Technology

National Institutes of Health

Gabriele Richard is an author at Thomas Jefferson University specializing in genetics, molecular genetics, and life sciences.

ORCID

Publications per year

1991–2022

77

Publications

77

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

, , +14

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Orit Topaz, Daniel L. Shurman, Margarita Indelman et al. · Nature Genetics · 2004 · 595 citations · Full text

, , +11

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 450 citations

, , +17

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

Gabriele Richard, Fatima Rouan, Colin E. Willoughby et al. · The American Journal of Human Genetics · 2002 · 373 citations · Full text

, , +12

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Melissa Kelly, Colleen Caleshu, Ana Morales et al. · Genetics in Medicine · 2018 · 371 citations · Full text

, , +16

1–5 of 77