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 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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 · 74 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

Anna Worthmann, Julius Ridder, Sharlaine Piel et al. · Nature Communications · 2024 · 57 citations · Full text

Life Sciences, Biochemistry, Nutritional Sciences +17

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 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4