Teresa Neuhann

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Silvia Cappello, Mary Jane Gray, Caroline Badouel et al. · Nature Genetics · 2013 · 276 citations

Molecular Neuroscience, Developmental Biology, Signaling Pathway +7

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 225 citations · Full text

Cnv Analysis, Genetics, Genetic Epidemiology +17

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

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Emma M. Wade, Philip B. Daniel, Zandra A. Jenkins et al. · The American Journal of Human Genetics · 2016 · 68 citations · Full text

Signal Transduction, Signaling Pathway, Cell Regulation +6

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Sharissa L. Latham, Nadja Ehmke, P. Reinke et al. · Nature Communications · 2018 · 66 citations · Full text