Detalhe da pesquisa
1.
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.
Hum Mutat
; 34(6): 915-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463607
2.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Am J Hum Genet
; 87(5): 618-30, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21055719
3.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Am J Hum Genet
; 86(5): 749-64, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20466091
4.
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Hum Mol Genet
; 18(16): 2957-62, 2009 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19443486
5.
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Genet Med
; 13(9): 777-84, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21844811