Kamal Khan

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry, Thomas Besnard, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 107 citations · Full text

Molecular Neuroscience, Developmental Biology, De Novo Disruption +12

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Simone Sanna‐Cherchi, Kamal Khan, Rik Westland et al. · The American Journal of Human Genetics · 2017 · 105 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Valentina Del Dotto, Farid Ullah, Ivano Di Meo et al. · Journal of Clinical Investigation · 2019 · 91 citations · Full text

Mtdna Depletion, Mitochondrial Dysfunction, Genetics +16

The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes

Gentzon Hall, Brandon M. Lane, Kamal Khan et al. · Journal of the American Society of Nephrology · 2018 · 86 citations · Full text

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Yu‐Ri Lee, Kamal Khan, Kim Armfield-Uhas et al. · Nature Communications · 2020 · 70 citations · Full text