Katja Kloth

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 116 citations · Full text

Brain Development, Genetics, Molecular Biology +25

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 98 citations · Full text

Developmental Anomaly, Pathogenic Sptbn1 Variants, Brain Development +7

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

Frederike L. Harms, Katja Kloth, Annette Bley et al. · The American Journal of Human Genetics · 2018 · 72 citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Developmental Biology +9

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Theodore G. Drivas, Dong Li, Divya Nair et al. · European Journal of Human Genetics · 2020 · 49 citations · Full text

Clinical Disorders, Mendelian Disorder, Chd3 Patients +9

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

Sina Renner, H. Gregg Schuler, Malik Alawi et al. · Genetics in Medicine · 2019 · 48 citations · Full text

Hereditary Aortopathies, Mendelian Disorder, Autoimmune Disease +11