Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
About this item
Full title
Author / Creator
Girirajan, Santhosh , Rosenfeld, Jill A , Coe, Bradley P , Parikh, Sumit , Friedman, Neil , Goldstein, Amy , Filipink, Robyn A , McConnell, Juliann S , Angle, Brad , Meschino, Wendy S , Nezarati, Marjan M , Asamoah, Alexander , Jackson, Kelly E , Gowans, Gordon C , Martin, Judith A , Carmany, Erin P , Stockton, David W , Schnur, Rhonda E , Penney, Lynette S , Martin, Donna M , Raskin, Salmo , Leppig, Kathleen , Thiese, Heidi , Smith, Rosemarie , Aberg, Erika , Niyazov, Dmitriy M , Escobar, Luis F , El-Khechen, Dima , Johnson, Kisha D , Lebel, Robert R , Siefkas, Kiana , Ball, Susie , Shur, Natasha , McGuire, Marianne , Brasington, Campbell K , Spence, J. Edward , Martin, Laura S , Clericuzio, Carol , Ballif, Blake C , Shaffer, Lisa G and Eichler, Evan E
Publisher
Waltham, MA: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
Waltham, MA: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
Most chromosomal deletions and duplications (copy-number variants) that are associated with neurodevelopmental disorders are known to result in a wide variation of clinical phenotypes. This study describes a genetic mechanism for such variation.
Genomic rearrangements are an important source of genetic and phenotypic variation. Rare, recurrent c...
Alternative Titles
Full title
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Authors, Artists and Contributors
Author / Creator
Rosenfeld, Jill A
Coe, Bradley P
Parikh, Sumit
Friedman, Neil
Goldstein, Amy
Filipink, Robyn A
McConnell, Juliann S
Angle, Brad
Meschino, Wendy S
Nezarati, Marjan M
Asamoah, Alexander
Jackson, Kelly E
Gowans, Gordon C
Martin, Judith A
Carmany, Erin P
Stockton, David W
Schnur, Rhonda E
Penney, Lynette S
Martin, Donna M
Raskin, Salmo
Leppig, Kathleen
Thiese, Heidi
Smith, Rosemarie
Aberg, Erika
Niyazov, Dmitriy M
Escobar, Luis F
El-Khechen, Dima
Johnson, Kisha D
Lebel, Robert R
Siefkas, Kiana
Ball, Susie
Shur, Natasha
McGuire, Marianne
Brasington, Campbell K
Spence, J. Edward
Martin, Laura S
Clericuzio, Carol
Ballif, Blake C
Shaffer, Lisa G
Eichler, Evan E
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3494411
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3494411
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1200395
