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Titel:

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

Dokumenttyp:
Article; Journal Article
Autor(en):
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...     »
Zeitschriftentitel:
Clin Genet
Jahr:
2021
Band / Volume:
100
Heft / Issue:
1
Seitenangaben Beitrag:
14-28
Volltext / DOI:
doi:10.1111/cge.13946
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33619735
Print-ISSN:
0009-9163
TUM Einrichtung:
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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