Eva Morava‐Kozicz

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Life Sciences, Biochemistry, Cell Biology +12

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Brett V. Johnson, Raman Kumar, Sabrina Oishi et al. · Biological Psychiatry · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

TMEM70 deficiency: long‐term outcome of 48 patients

Martin Magner, Veronika Dvořáková, Markéta Tesařová et al. · Journal of Inherited Metabolic Disease · 2014 · 70 citations

Medicine, Neurology, Immunopathology +2

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov et al. · The American Journal of Human Genetics · 2020 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Impact of integrated translational research on clinical exome sequencing

Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo et al. · Genetics in Medicine · 2020 · 65 citations · Full text

Life Sciences, Genetics, Translational Sciences +16