Muhammad A. Usmani

Statistics

Publications

Citations

109

H-Index

Active since

2019

Affiliations

Cincinnati Children's Hospital Medical Center(Current)

University of Groningen

University of Maryland, Baltimore

University of Health Sciences Lahore

Radboud University Medical Center

Muhammad A. Usmani is an author at Cincinnati Children's Hospital Medical Center specializing in genetics, neurodevelopmental disorder mutations, and neurodevelopmental genetics.

Publications per year

2019–2021

Publications

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

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

Muhammad A. Usmani, Zubair M. Ahmed, Pamela Magini et al. · The American Journal of Human Genetics · 2021 · 28 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Homozygous Variant in<i>ARL3</i>Causes Autosomal Recessive Cone Rod Dystrophy

Shakeel Ahmed Sheikh, Robert A. Sisk, Cara R. Schiavon et al. · Investigative Ophthalmology & Visual Science · 2019 · 17 citations · Full text

Medicine, Genetics, Ophthalmology +17

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