Katja Kloth
Universität Hamburg(DE)University Medical Center Hamburg-Eppendorf(DE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Cellular transport and secretion, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language(2018)118 cited
- → Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome(2021)104 cited
- → Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder(2018)73 cited
- → A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome(2020)50 cited
- → Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients(2019)48 cited
- → Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis(2021)38 cited
- → Exome Sequencing in Children(2019)37 cited
- → 16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome(2019)30 cited
- → First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features(2017)29 cited
- → ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants(2021)27 cited