학술논문
Inherited variants in CHD3demonstrate variable expressivity in Snijders Blok-Campeau syndrome
Document Type
Article
Author
van der Spek, Jet; den Hoed, Joery; Snijders Blok, Lot; Dingemans, Alexander J.M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D.N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wödl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Čuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Hüning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Rieß, Angelika; Schwaibold, Eva M.C.; Simon, Marleen E.H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B.A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E.L. M.; Fisher, Simon E.; Kleefstra, Tjitske
Source
Genetics in Medicine; 20220101, Issue: Preprints
Subject
Language
ISSN
10983600; 15300366
Abstract
Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders (NDDs) as causal when the transmitting parent is clinically unaffected, leaving a significant number of cases with NDDs undiagnosed.