Article
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.
PLoS genetics - 1 Mar 2015
Andrews Tallulah, Meader Stephen, Vulto-van Silfhout Anneke, Taylor Avigail, Steinberg Julia, Hehir-Kwa Jayne, Pfundt Rolph, de Leeuw Nicole, de Vries Bert B A, Webber Caleb
Abstract excerpt
Readily-accessible and standardised capture of genotypic variation has revolutionised our understanding of the genetic contribution to disease. Unfortunately, the corresponding systematic capture of patient phenotypic variation needed to fully interpret the impact of genetic variation has lagged far behind. Exploiting deep and systematic phenotyping of a cohort of 197 patients presenting with heterogeneous...
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