Dagmar Huhle

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott C. Bell, Justine Rousseau, Huashan Peng et al. · The American Journal of Human Genetics · 2019 · 90 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and<i>PEX26</i>mutated in Heimler syndrome

Christine Neuhaus, Tobias Eisenberger, Christian Decker et al. · Molecular Genetics & Genomic Medicine · 2017 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Fanny Kortüm, Rami Abou Jamra, Malik Alawi et al. · European Journal of Human Genetics · 2018 · 48 citations · Full text

Life Sciences, Genetics, Neuroscience +7

Mitotic Stability of Small Supernumerary Marker Chromosomes: A Study Based on 93 Immortalized Cell Lines

Hannes Spittel, Florian Kubek, Katharina Kreskowski et al. · Cytogenetic and Genome Research · 2014 · 45 citations · Full text

Life Sciences, Cell Biology, Genetics +15