Mohsin Shahzad

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

Atteeq U. Rehman, Robert J. Morell, Inna A. Belyantseva et al. · The American Journal of Human Genetics · 2010 · 193 citations · Full text

Mutated Gene, Genetic Disorder, Medicine +9

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

Arjan P.M. de Brouwer, Rami Abou Jamra, Nadine Körtel et al. · The American Journal of Human Genetics · 2018 · 132 citations · Full text

Intellectual Impairment, Short Stature, Genetic Disorder +5

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

Mariella Simon, Élodie M. Richard, Xinjian Wang et al. · PLoS Genetics · 2015 · 113 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Mitochondrial Biogenesis +13

Identities and frequencies of mutations of the otoferlin gene (<i>OTOF</i>) causing DFNB9 deafness in Pakistan

BY Choi, ZM Ahmed, Saima Riazuddin et al. · Clinical Genetics · 2009 · 102 citations

Alternative Splice Isoform, Genetics, Genetic Epidemiology +16

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 · 92 citations · Full text

Allelic Variant, Developmental Biology, Genetic Disorder +5