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Title:

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Document type:
Article; Journal Article
Author(s):
Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M; Westphal, Dominik S; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpál, Ján; Havránková, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Bor...     »
Abstract:
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and developmental motor abnormalities have a documented underlying monogenic defect, primarily due to de novo variants. Still, the overall burden of de novo variants as well as novel disease genes in NDDs await discovery. We performed parent-offspring trio exome sequencing in 231 individuals with NDDs. Phenotypes were compiled using human phenotype ontology terms. The...     »
Journal title abbreviation:
Clin Genet
Year:
2021
Journal volume:
100
Journal issue:
1
Pages contribution:
14-28
Fulltext / DOI:
doi:10.1111/cge.13946
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/33619735
Print-ISSN:
0009-9163
TUM Institution:
611; Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik; Klinik und Poliklinik für Innere Medizin I, Kardiologie; Klinik und Poliklinik für Kinder- und Jugendmedizin; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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