Article
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Clinical genetics - 1 Jul 2021
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, Borggraefe Ingo, Distelmaier Felix, Strom Tim M, Winkelmann Juliane, Meitinger Thomas, Zech Michael, Wagner Matias
Abstract excerpt
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...
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