Concepedia

John Garcia

JG

Statistics

Publications

20

Citations

2.7K

H-Index

17

Active since

2014

Affiliations

Invitae (United States)(Current)

Stanford University

Harvard University

Mass General Brigham

Massachusetts General Hospital

John Garcia is an author at Invitae (United States) specializing in genetics, medical genetics, and life sciences.

ORCID

Publications per year

2014–2025

20

Publications

20

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael J. Anderson, Martin P. Powers et al. · Genetics in Medicine · 2017 · 759 citations · Full text

, , +15

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

Reappraisal of Reported Genes for Sudden Arrhythmic Death

S. Mohsen Hosseini, Raymond H. Kim, Sharmila Udupa et al. · Circulation · 2018 · 370 citations · Full text

, , +13

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

Yuya Kobayashi, Shan Yang, Keith Nykamp et al. · Genome Medicine · 2017 · 240 citations · Full text

, , +17

Regional Variation in <i>RBM20</i> Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy

Victoria N. Parikh, Colleen Caleshu, Chloe M. Reuter et al. · Circulation Heart Failure · 2019 · 147 citations · Full text

, , +13

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