Concepedia

Kwanghyuk Lee

KL

Statistics

Publications

22

Citations

1.5K

H-Index

20

Active since

2013

Affiliations

Baylor College of Medicine(Current)

Baylor Genetics

Quaid-i-Azam University

University of Washington

The University of Texas Health Science Center at Houston

Kwanghyuk Lee is an author at Baylor College of Medicine specializing in medical genetics, genetics, and molecular genetics.

ORCID

Publications per year

2013–2023

22

Publications

22

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski et al. · Nature Genetics · 2015 · 399 citations · Full text

, , +11

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

Regie Lyn P. Santos‐Cortez, Kwanghyuk Lee, Zahid Azeem et al. · The American Journal of Human Genetics · 2013 · 114 citations · Full text

, , +12

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

Atteeq U. Rehman, Regie Lyn P. Santos‐Cortez, Robert J. Morell et al. · The American Journal of Human Genetics · 2014 · 87 citations · Full text

, , +14

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Élodie M. Richard, Regie Lyn P. Santos‐Cortez, Rabia Faridi et al. · Human Mutation · 2018 · 86 citations

, , +13

Mutational Spectrum of<i>MYO15A</i>and the Molecular Mechanisms of DFNB3 Human Deafness

Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi et al. · Human Mutation · 2016 · 85 citations · Full text

, , +17

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