Sohail Aziz Paracha

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty et al. · Human Molecular Genetics · 2019 · 62 citations

Medicine, Ophthalmology, Pharmacotherapy +10

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

Muhammad Ansar, Frédéric Ebstein, Hayriye Özkoç et al. · Human Molecular Genetics · 2020 · 47 citations

Life Sciences, Molecular Biology, Molecular Genetics +16

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

Muhammad Ansar, Hyung-Lok Chung, Ali Al‐Otaibi et al. · The American Journal of Human Genetics · 2019 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

FOXI3 pathogenic variants cause one form of craniofacial microsomia

Ke Mao, Christelle Borel, Muhammad Ansar et al. · Nature Communications · 2023 · 33 citations · Full text

Medicine, Genetics, Molecular Genetics +16