Article
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2022
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
Abstract excerpt
PURPOSE: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving a significant number of cases with neurodevelopmental disorders undiagnosed. METHODS: We characterized 21 families with inherited heterozygous missense or...
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