Mohsin Shahzad
University of the Punjab(PK)Shaheed Zulfiqar Ali Bhutto Institute of Science and Technology(PK)Centre of Excellence in Molecular Biology(PK)Government College University, Lahore(PK)Government College of Science(PK)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Genetics and Neurodevelopmental Disorders, RNA and protein synthesis mechanisms, Genomics and Rare Diseases, RNA regulation and disease
Most-Cited Works
- → Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79(2010)193 cited
- → Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability(2016)154 cited
- → Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior(2018)133 cited
- → Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome(2015)113 cited
- → Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan(2009)103 cited
- → Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly(2019)