Zdeněk Sedláček

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi et al. · Cell · 1993 · 3.1K citations

Genetic Diseases, Genome Instability, Novel Gene +10

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang, Kendra Hoekzema, Davide Vecchio et al. · Nature Communications · 2020 · 204 citations · Full text

Genetics, Most Genes, Disease Gene Identification +19

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang et al. · Nature Neuroscience · 2017 · 176 citations · Full text

Neurodevelopmental Disorders, Neurodevelopmental Disorder Genes, Functional Domains +12

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene

Zuzana Mušová, Radim Mazanec, Anna Křepelová et al. · American Journal of Medical Genetics Part A · 2009 · 154 citations

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Anindita Basak, Miroslava Hančárová, Jacob C. Ulirsch et al. · Journal of Clinical Investigation · 2015 · 144 citations · Full text

Bcl11a Deletions, Brain Development, Genetics +22