Concepedia

Hayk Barseghyan

HB

26

Publications

1.9K

Citations

21

H-Index

2013

Active since

Affiliations

University of California, Los Angeles(Current)

Children's National

Baylor College of Medicine

Columbia University

Texas Children's Hospital

Hayk Barseghyan is an author at University of California, Los Angeles specializing in medicine, genetics, and neuroscience.

ORCID

Top concepts

Publications per year

2013–2024

26

Publications

26

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

Ruth M. Baxter, Valerie A. Arboleda, Hane Lee et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 230 citations · Full text

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 181 citations · Full text

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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Anu Bashamboo, Patricia A. Donohoue, Éric Vilain et al. · Human Molecular Genetics · 2016 · 131 citations · Full text

, , +21

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke et al. · The American Journal of Human Genetics · 2016 · 118 citations · Full text

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