Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
- Author
- GIRIRAJAN, Santhosh1 ; ROSENFELD, Jill A3 ; NEZARATI, Marjan M13 ; ASAMOAH, Alexander16 ; JACKSON, Kelly E16 ; GOWANS, Gordon C16 ; MARTIN, Judith A4 ; CARMANY, Erin P17 ; STOCKTON, David W17 ; SCHNUR, Rhonda E19 ; PENNEY, Lynette S14 ; MARTIN, Donna M18 ; COE, Bradley P1 ; RASKIN, Salmo20 ; LEPPIG, Kathleen5 ; THIESE, Heidi5 ; SMITH, Rosemarie21 ; ABERG, Erika15 ; NIYAZOV, Dmitriy M22 ; ESCOBAR, Luis F23 ; EL-KHECHEN, Dima23 ; JOHNSON, Kisha D12 ; LEBEL, Robert R24 ; PARIKH, Sumit7 ; SIEFKAS, Kiana6 ; BALL, Susie6 ; SHUR, Natasha25 ; MCGUIRE, Marianne10 9 ; BRASINGTON, Campbell K; SPENCE, J. Edward; MARTIN, Laura S; CLERICUZIO, Carol; BALLIF, Blake C3 ; SHAFFER, Lisa G3 ; FRIEDMAN, Neil7 ; EICHLER, Evan E1 2 ; GOLDSTEIN, Amy8 ; FILIPINK, Robyn A8 ; MCCONNELL, Juliann S9 ; ANGLE, Brad11 ; MESCHINO, Wendy S13
[1] the Department of Genome Sciences, University of Washington, Seattle, United States
[2] Howard Hughes Medical Institute, University of Washington, Seattle, United States
[3] Signature Genomic Laboratories, PerkinElmer, Spokane, United States
[4] Providence-Sacred Heart Hospital, Spokane, United States
[5] Group Health Cooperative, Seattle, United States
[6] Yakima Valley Memorial Hospital, Yakima, Washington, United States
[7] Cleveland Clinic, Cleveland, United States
[8] Division of Child Neurology, Children's Hospital of Pittsburgh ofUPMC (University of Pittsburgh Medical Center), United States
[9] Department of Pediatrics, Children's Hospital of Pittsburgh ofUPMC (University of Pittsburgh Medical Center), United States
[10] Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, United States
[11] Ann and Robert H. Lurie Children's Hospital, Rush University Medical Center, Chicago, United States
[12] Department of Pediatrics, Rush University Medical Center, Chicago, United States
[13] North York General Hospital, Toronto, Canada
[14] Department of Pediatrics, Dalhousie University, Halifax, NS, Canada
[15] Maritime Medical Genetics, Izaak Walton Killam Health Centre, Halifax, NS, Canada
[16] Weisskopf Child Evaluation Center, Pediatrics Department, University of Louisville, Louisville, KY, United States
[17] Children's Hospital of Michigan, Detroit, United States
[18] Departments of Pediatrics and Human Genetics, University of Michigan Medical Center, Ann Arbor Michigan, United States
[19] Division of Genetics, Department of Pediatrics, Cooper Medical School of Rowan University, Camden, NJ, United States
[20] Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, Center for Biological and Health Sciences, Pontifícia Universidade Catolica do Parana, and Genetika-Centro de Aconselhamento e Laboratorio de Genética, Curitiba, Brazil
[21] Maine Medical Partners, Pediatric Specialty Care, Portland, United States
[22] Department of Pediatrics, Ochsner Clinic Foundation, New Orleans, France
[23] Peyton Manning Children's Hospital at St. Vincent, Indianapolis, United States
[24] State University of New York Upstate Medical University, Syracuse, United States
[25] Rhode Island Hospital―Hasbro Children's Hospital, Providence, United States - Source
The New England journal of medicine. 2012, Vol 367, Num 14, pp 1321-1331, 11 p ; ref : 18 ref
- CODEN
- NEJMAG
- ISSN
- 0028-4793
- Scientific domain
- General medicine general surgery
- Publisher
- Massachusetts Medical Society, Waltham, MA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Génome Génomique Génotype Hétérogénéité Médecine Nombre copie Phénotype Variabilité génétique Variant
- Keyword (en)
- Genome Genomics Genotype Heterogeneity Medicine Copy number Phenotype Genetic variability Variant
- Keyword (es)
- Genoma Genómica Genotipo Heterogeneidad Medicina Número copia Fenotipo Variabilidad genética Variante
- Classification
- Discipline
- Generalities in medical sciences
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26395641
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1056/NEJMoa1200395 
https://dx.doi.org/10.1056/NEJMoa1200395
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arXiv access
