An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Genetics in Medicine - Tập 13 - Trang 777-784 - 2011
Erin B Kaminsky1, Vineith Kaul1, Justin Paschall2, Deanna M Church2, Brian Bunke1, Dawn Kunig1, Daniel Moreno-De-Luca1, Andres Moreno-De-Luca1, Jennifer G Mulle1, Stephen T Warren1,3, Gabriele Richard4, John G Compton4, Amy E Fuller4, Troy J Gliem5, Shuwen Huang6,7, Morag N Collinson6, Sarah J Beal6, Todd Ackley8, Diane L Pickering9, Denae M Golden9
1Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia
2National Center for Biotechnology Information, Bethesda, Maryland
3Departments of Pediatrics and Biochemistry, Emory University School of Medicine, Atlanta, Georgia
4GeneDx, Gaithersburg, Maryland;
5Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota
6Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.
7National Genetics Reference Laboratory (Wessex), Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom
8Michigan Medical Genetics Laboratories, Ann Arbor, Michigan
9Human Genetics Laboratory, University of Nebraska Medical Center, Omaha, Nebraska; Salt Lake City, Utah.

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Thông tin xuất bản

Genetics in Medicine

Tập 13

777-784

Thông tin tác giả