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

被引：0

作者：

Bradley P Coe

Kali Witherspoon

Jill A Rosenfeld

Bregje W M van Bon

Anneke T Vulto-van Silfhout

Paolo Bosco

Kathryn L Friend

Carl Baker

Serafino Buono

Lisenka E L M Vissers

Janneke H Schuurs-Hoeijmakers

Alex Hoischen

Rolph Pfundt

Nik Krumm

Gemma L Carvill

Deana Li

David Amaral

Natasha Brown

Paul J Lockhart

Ingrid E Scheffer

Antonino Alberti

Marie Shaw

Rosa Pettinato

Raymond Tervo

Nicole de Leeuw

Margot R F Reijnders

Beth S Torchia

Hilde Peeters

Elizabeth Thompson

Brian J O'Roak

Marco Fichera

Jayne Y Hehir-Kwa

Jay Shendure

Heather C Mefford

Eric Haan

Jozef Gécz

Bert B A de Vries

Corrado Romano

Evan E Eichler

机构：

[1] University of Washington School of Medicine,Department of Genome Sciences

[2] Signature Genomics Laboratories,Department of Human Genetics

[3] LLC,Department of Pediatrics

[4] PerkinElmer,Department of Paediatrics

[5] Inc.,Division of Developmental and Behavioral Pediatrics

[6] Radboud University Medical Center,undefined

[7] SA Pathology,undefined

[8] IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima,undefined

[9] University of Washington,undefined

[10] Representing the Autism Phenome Project,undefined

[11] MIND Institute,undefined

[12] University of California,undefined

[13] Davis,undefined

[14] University of Melbourne,undefined

[15] Royal Children's Hospital,undefined

[16] Barwon Child Health Unit,undefined

[17] Barwon Health,undefined

[18] Murdoch Childrens Research Institute,undefined

[19] University of Melbourne,undefined

[20] Royal Children's Hospital,undefined

[21] Florey Institute,undefined

[22] University of Melbourne,undefined

[23] Austin Health and Royal Children's Hospital,undefined

[24] Mayo Clinic,undefined

[25] Center for Human Genetics,undefined

[26] University Hospitals Leuven,undefined

[27] KU Leuven,undefined

[28] Leuven Autism Research (LAuRes),undefined

[29] School of Paediatrics and Reproductive Health,undefined

[30] University of Adelaide,undefined

[31] Robinson Institute,undefined

[32] University of Adelaide,undefined

[33] Howard Hughes Medical Institute,undefined

[34] Present addresses: Molecular and Medical Genetics,undefined

[35] Oregon Health and Science University (OHSU),undefined

[36] Portland,undefined

[37] Oregon,undefined

[38] USA (B.J.O.) and Medical Genetics,undefined

[39] University of Catania,undefined

[40] Catania,undefined

[41] Italy (M.F.).,undefined

来源：

Nature Genetics | 2014年 / 46卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：1063 / 1071

页数：8

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