Ehsan Ghayoor Karimiani

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 · 262 citations · Full text

Medicine, Neurology, Neuroscience +11

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Johanne Dubail, Céline Huber, Sandrine Chantepie et al. · Nature Communications · 2018 · 70 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen et al. · European Journal of Human Genetics · 2018 · 69 citations · Full text

Life Sciences, Genetics, Neuroscience +16