Anaïs Begemann

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Michael S. Nahorski, Sateesh Maddirevula, Ryosuke Ishimura et al. · Brain · 2018 · 112 citations · Full text

Biallelic Ufm1, Brain Development, Genetics +17

Confirmation of mutations in <i>PROSC</i> as a novel cause of vitamin B_₆-dependent epilepsy

Barbara Plecko, Markus Zweier, Anaïs Begemann et al. · Journal of Medical Genetics · 2017 · 78 citations

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl et al. · European Journal of Human Genetics · 2018 · 71 citations · Full text

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Anaïs Begemann, Mario A. Acuña, Markus Zweier et al. · Molecular Medicine · 2019 · 67 citations · Full text

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Anaïs Begemann, Heinrich Sticht, Amber Begtrup et al. · Genetics in Medicine · 2020 · 58 citations · Full text