Regie Lyn P. Santos‐Cortez

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

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +10

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

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck et al. · The American Journal of Human Genetics · 2015 · 65 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +7

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Regie Lyn P. Santos‐Cortez, Kwanghyuk Lee, Arnaud P. J. Giese et al. · Human Molecular Genetics · 2014 · 60 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +19