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Primary Sjögren's syndrome is one of the most common autoimmune diseases. So far, genetic studies of Sjögren's syndrome have… Expand A small number of rare, recurrent genomic copy number variants (CNVs) are known to substantially increase susceptibility to… Expand We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families… Expand Copy number variants (CNVs) of the Williams–Beuren syndrome (WBS) 7q11.23 region are responsible for neurodevelopmental disorders… Expand Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The… Expand There are limited population-based data on the occurrence of Williams syndrome. We estimated its prevalence combining data from… Expand Williams syndrome is a rare neurodevelopmental disorder caused by a hemizygous deletion of approximately 1.5 megabases on… Expand Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome… Expand Chromatin rearrangements in the meiotic prophase are characterized by the assembly and disassembly of synaptonemal complexes (SC… Expand To identify genes important for human cognitive development, we studied Williams syndrome (WS), a developmental disorder that… Expand