Detalhe da pesquisa
1.
Characterizing the Major Structural Variant Alleles of the Human Genome.
Cell
; 176(3): 663-675.e19, 2019 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661756
2.
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Cell
; 172(5): 897-909.e21, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474918
3.
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
PLoS Genet
; 15(3): e1008075, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30917130
4.
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
Proc Natl Acad Sci U S A
; 115(19): E4433-E4442, 2018 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29686068
5.
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.
Genome Res
; 26(11): 1453-1467, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27803192
6.
Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
J Neuroinflammation
; 13(1): 81, 2016 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27090374
7.
Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication.
BMC Genomics
; 15: 329, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24885186
8.
Can genetic associations change with age? CFH and age-related macular degeneration.
Hum Mol Genet
; 21(23): 5229-36, 2012 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22936692
9.
Molecular methods for genotyping complex copy number polymorphisms.
Genomics
; 101(2): 86-93, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23123317
10.
Correlating multiallelic copy number polymorphisms with disease susceptibility.
Hum Mutat
; 34(1): 1-13, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22837109
11.
Association of the del443ins54 at the ARMS2 locus in Indian and Australian cohorts with age-related macular degeneration.
Mol Vis
; 19: 822-8, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23592919
12.
Almost total protection from age-related macular degeneration by haplotypes of the Regulators of Complement Activation.
Genomics
; 98(6): 412-21, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21855625
13.
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans.
Nat Commun
; 12(1): 5118, 2021 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34433829
14.
Recurrent inversion toggling and great ape genome evolution.
Nat Genet
; 52(8): 849-858, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32541924
15.
An evolutionary driver of interspersed segmental duplications in primates.
Genome Biol
; 21(1): 202, 2020 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778141
16.
Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.
Sci Rep
; 9(1): 15433, 2019 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31659207
17.
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.
Science
; 366(6463)2019 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31624180
18.
Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Nat Commun
; 10(1): 1784, 2019 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30992455
19.
High-resolution comparative analysis of great ape genomes.
Science
; 360(6393)2018 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29880660
20.
Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs).
Methods Mol Biol
; 1492: 95-106, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27822858