Kwanghyuk Lee

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 · 385 citations · Full text

Rheumatoid Disorder, Rheumatology, Inflammatory Lung Disease +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 · 110 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +10

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 · 86 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

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 · 84 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +18

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 · 84 citations

Genetics, Genetic Epidemiology, Consanguineous Pakistani Families +20