Detalhe da pesquisa
1.
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
Cell
; 185(11): 1986-2005.e26, 2022 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35525246
2.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Cell
; 176(6): 1310-1324.e10, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827684
3.
Assembly of 43 human Y chromosomes reveals extensive complexity and variation.
Nature
; 621(7978): 355-364, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37612510
4.
Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement.
Genome Res
; 34(1): 7-19, 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38176712
5.
Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall.
Genome Res
; 33(12): 2029-2040, 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38190646
6.
SVision: a deep learning approach to resolve complex structural variants.
Nat Methods
; 19(10): 1230-1233, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36109679
7.
LINE-1 retrotransposition activity in human genomes.
Cell
; 141(7): 1159-70, 2010 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602998
8.
Hotspots of Human Mutation.
Trends Genet
; 37(8): 717-729, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199048
9.
Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Genome Res
; 28(8): 1228-1242, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907612
10.
Spliced integrated retrotransposed element (SpIRE) formation in the human genome.
PLoS Biol
; 16(3): e2003067, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29505568
11.
Structural variant identification and characterization.
Chromosome Res
; 28(1): 31-47, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31907725
12.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Am J Hum Genet
; 97(5): 691-707, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26544804
13.
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
PLoS Genet
; 11(3): e1005050, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25749076
14.
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
PLoS Genet
; 11(12): e1005686, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26641089
15.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol
; 139(1): 232-245, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577878
16.
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Hum Mol Genet
; 24(14): 4061-77, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25908615
17.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Am J Hum Genet
; 95(2): 143-61, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25065914
18.
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am J Hum Genet
; 95(1): 96-107, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24931394
19.
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Genet Med
; 18(5): 443-51, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378787
20.
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
BMC Genomics
; 16: 214, 2015 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25887218