Theresia Herget

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Christian Staufner, Bianca Peters, Matias Wagner et al. · Genetics in Medicine · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · Nature Genetics · 2024 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

Tasja Scholz, Martin Blohm, Fanny Kortüm et al. · Neonatology · 2021 · 39 citations

Life Sciences, Genetics, Molecular Genetics +16

Nine newly identified individuals refine the phenotype associated with <i>MYT1L</i> mutations

Isabelle C. Windheuser, Jessica Becker, Kirsten Cremer et al. · American Journal of Medical Genetics Part A · 2020 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15