Zdeněk Sedláček
Charles University(CZ)University Hospital in Motol(CZ)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Cancer-related Molecular Pathways, Prenatal Screening and Diagnostics
Most-Cited Works
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.(1993)
- → Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders(2020)209 cited
- → Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains(2017)179 cited
- → Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene(2009)155 cited
- → BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations(2015)145 cited
- → Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism(2004)123 cited
- → A strategy for the selection of transcribed sequences in the Xq28 region