Shaheen N. Khan

机构：University of the Punjab, Centre of Excellence in Molecular Biology

发表论文 103 篇 · 总被引 5913 次 · h-index 40

代表论文

• Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome (2015 · PLoS Genetics · 被引 118)
• Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss (2018 · Human Mutation · 被引 91)
• Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86 (2014 · The American Journal of Human Genetics · 被引 86)
• Mutational Spectrum ofMYO15Aand the Molecular Mechanisms of DFNB3 Human Deafness (2016 · Human Mutation · 被引 85)
• An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans (2013 · PLoS Genetics · 被引 60)
• Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening (2017 · Investigative Ophthalmology & Visual Science · 被引 59)