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TY - JOUR AU - Coe, Bradley P AU - Witherspoon, Kali AU - Rosenfeld, Jill A AU - van Bon, Bregje W M AU - Vulto-van Silfhout, Anneke T AU - Bosco, Paolo AU - Friend, Kathryn L AU - Baker, Carl AU - Buono, Serafino AU - Vissers, Lisenka E L M AU - Schuurs-Hoeijmakers, Janneke H AU - Hoischen, Alex AU - Pfundt, Rolph AU - Krumm, Nik AU - Carvill, Gemma L AU - Li, Deana AU - Amaral, David AU - Brown, Natasha AU - Lockhart, Paul J AU - Scheffer, Ingrid E AU - Alberti, Antonino AU - Shaw, Marie AU - Pettinato, Rosa AU - Tervo, Raymond AU - de Leeuw, Nicole AU - Reijnders, Margot R F AU - Torchia, Beth S AU - Peeters, Hilde AU - Thompson, Elizabeth AU - O'Roak, Brian J AU - Fichera, Marco AU - Hehir-Kwa, Jayne Y AU - Shendure, Jay AU - Mefford, Heather C AU - Haan, Eric AU - Gécz, Jozef AU - de Vries, Bert B A AU - Romano, Corrado AU - Eichler, Evan E PY - 2014 DA - 2014/10/01 TI - Refining analyses of copy number variation identifies specific genes associated with developmental delay JO - Nature Genetics SP - 1063 EP - 1071 VL - 46 IS - 10 AB - Evan Eichler and colleagues report an expanded copy number variation (CNV) morbidity map of developmental delay, with additional resequencing of candidate genes in regions implicated by large CNVs. They identify several new disease-associated CNVs and show how their combined approach facilitates discovery of new developmental syndromes and disease genes. SN - 1546-1718 UR - https://doi.org/10.1038/ng.3092 DO - 10.1038/ng.3092 ID - Coe2014 ER -