Refining analyses of copy number variation identifies specific genes associated with developmental delay

Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large and the underlying causative gene is unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay versus 19,584 healthy controls, identifying 70...

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Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: 2014
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4177294/
https://ncbi.nlm.nih.gov/pubmed/25217958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3092
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