Johannes Luppe

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

Anna R. Duncan, Maya M. Polovitskaya, Héctor Gaitán‐Peñas et al. · The American Journal of Human Genetics · 2021 · 43 citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Developmental Biology +10

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Yuri A. Zárate, Tomoko Uehara, Kota Abe et al. · Genetics in Medicine · 2021 · 18 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +9

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

Johannes Luppe, Heinrich Sticht, François Lecoquierre et al. · European Journal of Human Genetics · 2022 · 17 citations · Full text

<i>WARS1</i> and <i>SARS1</i> : Two tRNA synthetases implicated in autosomal recessive microcephaly

Nina Bögershausen, Hannah Elisa Krawczyk, Rami Abou Jamra et al. · Human Mutation · 2022 · 15 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +16