Concepedia

Yaron Einhorn

YE

Statistics

Publications

7

Citations

289

H-Index

7

Active since

2017

Affiliations

Johns Hopkins University(Current)

Broad Institute

University of Edinburgh

King Faisal Specialist Hospital & Research Centre

European Bioinformatics Institute

Yaron Einhorn is an author at Johns Hopkins University specializing in medical genetics, genomics, and genetics.

Publications per year

2017–2023

7

Publications

7

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. DiStefano, Scott Goehringer, Lawrence Babb et al. · Genetics in Medicine · 2022 · 163 citations · Full text

, , +13

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

Eliete da S. Rodrigues, Sean Griffith, Renan Paulo Martin et al. · Human Mutation · 2022 · 44 citations · Full text

, , +17

Loss of <i>Protocadherin‐12</i><scp>L</scp>eads to <scp>D</scp>iencephalic‐<scp>M</scp>esencephalic <scp>J</scp>unction <scp>D</scp>ysplasia <scp>S</scp>yndrome

Alicia Guemez‐Gamboa, Ahmet Okay Çağlayan, Valentina Stanley et al. · Annals of Neurology · 2018 · 29 citations · Full text

, , +7

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Marina T. DiStefano, Scott Goehringer, Lawrence Babb et al. · medRxiv · 2022 · 17 citations · Full text

, , +9

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Nicolas Garnier, Joanne Berghout, Aldona Zygmunt et al. · PLoS ONE · 2023 · 15 citations · Full text

, , +17

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