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 · 119 citations · Full text

Life Sciences, Genetics, Neuroscience +16

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

Medicine, Genetics, Neurology +17

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 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Markus Zweier, Anaïs Begemann, Kirsty McWalter et al. · European Journal of Human Genetics · 2019 · 73 citations · Full text

Life Sciences, Genetics, Molecular Biology +9

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 · 69 citations · Full text

Life Sciences, Genetics, Neuroscience +17