Muhammad Ansar

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders

Zafar Iqbal, Geert Vandeweyer, Monique van der Voet et al. · Human Molecular Genetics · 2013 · 177 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

Monique C.M. Balemans, Muhammad Ansar, Astrid Oudakker et al. · Developmental Biology · 2013 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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