Jens Schallner

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

Alexandra Pinggera, Luisa Mackenroth, Andreas Rump et al. · Human Molecular Genetics · 2017 · 122 citations · Full text

Autism Spectrum Disorders, Genetics, Synaptic Transmission +24

Mutations in <i>EXOSC2</i> are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert et al. · Journal of Medical Genetics · 2016 · 91 citations

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations

Adeline Vanderver, Davide Tonduti, Ilana Kahn et al. · American Journal of Medical Genetics Part A · 2013 · 76 citations · Full text

Diagnostic value of partial exome sequencing in developmental disorders

Laura Gieldon, Luisa Mackenroth, Anne‐Karin Kahlert et al. · PLoS ONE · 2018 · 60 citations · Full text

Bioinformatics, Developmental Anomaly, Mendelian Disorder +13

Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children

Elisa Nitz, Martin Smitka, Jens Schallner et al. · Annals of Clinical and Translational Neurology · 2021 · 60 citations · Full text