Article
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Nature genetics - 1 Oct 2014
Coe Bradley P, Witherspoon Kali, Rosenfeld Jill A, van Bon Bregje W M, Vulto-van Silfhout Anneke T, Bosco Paolo, Friend Kathryn L, Baker Carl, Buono Serafino, Vissers Lisenka E L M, Schuurs-Hoeijmakers Janneke H, Hoischen Alex, Pfundt Rolph, Krumm Nik, Carvill Gemma L, Li Deana, Amaral David, Brown Natasha, Lockhart Paul J, Scheffer Ingrid E, Alberti Antonino, Shaw Marie, Pettinato Rosa, Tervo Raymond, de Leeuw Nicole, Reijnders Margot R F, Torchia Beth S, Peeters Hilde, O'Roak Brian J, Fichera Marco, Hehir-Kwa Jayne Y, Shendure Jay, Mefford Heather C, Haan Eric, Gécz Jozef, de Vries Bert B A, Romano Corrado, Eichler Evan E
Abstract excerpt
Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay...
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