Szatmari, Peter Paterson, Andrew D Zwaigenbaum, Lonnie Roberts, Wendy Brian, Jessica Liu, Xiao-Qing Vincent, John B Skaug, Jennifer L Thompson, Ann P Senman, Lili
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Published in
Nature genetics
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected ...
Willer, Tobias Lee, Hane Lommel, Mark Yoshida-Moriguchi, Takako de Bernabe, Daniel Beltran Valero Venzke, David Cirak, Sebahattin Schachter, Harry Vajsar, Jiri Voit, Thomas
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Published in
Nature genetics
Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal post-translational processing of a-dystroglycan that share a defect in laminin-binding glycan synthe...
