Detalhe da pesquisa
1.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res
; 25(3): 305-15, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637381
2.
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
Am J Hum Genet
; 90(4): 599-613, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22482802
3.
De novo rates and selection of large copy number variation.
Genome Res
; 20(11): 1469-81, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20841430
4.
CD49d Expression Identifies a Biologically Distinct Subtype of Chronic Lymphocytic Leukemia with Inferior Progression-Free Survival on BTK Inhibitor Therapy.
Clin Cancer Res
; 29(18): 3612-3621, 2023 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37227160
5.
Population analysis of large copy number variants and hotspots of human genetic disease.
Am J Hum Genet
; 84(2): 148-61, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19166990
6.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med
; 359(16): 1685-99, 2008 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18784092
7.
Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration.
PLoS One
; 13(12): e0209943, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30571798
8.
Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.
Nat Protoc
; 9(6): 1496-513, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24874815
9.
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.
PLoS One
; 6(10): e25598, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22022419
10.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nat Genet
; 42(3): 203-9, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20154674
11.
Optimal design of oligonucleotide microarrays for measurement of DNA copy-number.
Hum Mol Genet
; 16(22): 2770-9, 2007 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17725982