Katharina Steindl
University of Zurich(CH)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Ubiquitin and proteasome pathways
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction(2017)165 cited
- → SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)160 cited
- → Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development(2018)114 cited
- → The clinical significance of small copy number variants in neurodevelopmental disorders(2014)103 cited
- → Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy(2019)98 cited
- → SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females(2021)89 cited
- → FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum(2016)86 cited
- → Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly(2019)82 cited
- → Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures(2019)73 cited