Asma Ali Khan

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

Élodie M. Richard, D.L. Polla, Muhammad Zaman Khan Assir et al. · The American Journal of Human Genetics · 2019 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Life Sciences, Genetics, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +13

Mutations of <i><scp>SGO2</scp></i> and <i><scp>CLDN14</scp></i> collectively cause coincidental Perrault syndrome

Rabia Faridi, Atteeq U. Rehman, Robert J. Morell et al. · Clinical Genetics · 2016 · 53 citations · Full text

Life Sciences, Genetics, Genomics +15

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

Xiaodong Jiaox, Shahid Y. Khan, Bushra Irum et al. · PLoS ONE · 2015 · 39 citations · Full text

Life Sciences, Genetics, Ophthalmology +14