Reza Maroofian

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

Nynke Oosterhof, Irene J. Chang, Ehsan Ghayoor Karimiani et al. · The American Journal of Human Genetics · 2019 · 254 citations · Full text

Pediatric-onset Leukoencephalopathy, Homozygous Mutations, Neurological Disorder +10

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 236 citations · Full text

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza et al. · Brain · 2013 · 139 citations · Full text

Genetics, Glycobiology, Molecular Biology +20

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Denise Yan, Demet Tekin, Güney Bademci et al. · Human Genetics · 2016 · 136 citations · Full text

Allelic Variant, Multiple Continents, Mendelian Disorder +12

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 101 citations · Full text

Myelin Development, Myelin Sheath, Neurodegenerative Diseases +15