Detalhe da pesquisa
1.
Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing.
Cell
; 174(2): 433-447.e19, 2018 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909985
2.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet
; 110(9): 1454-1469, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595579
3.
Complement genes contribute sex-biased vulnerability in diverse disorders.
Nature
; 582(7813): 577-581, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499649
4.
A structural variation reference for medical and population genetics.
Nature
; 581(7809): 444-451, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461652
5.
Author Correction: A structural variation reference for medical and population genetics.
Nature
; 590(7846): E55, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33536627
6.
High-Resolution and Noninvasive Fetal Exome Screening.
N Engl J Med
; 389(21): 2014-2016, 2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37991862
7.
GATK PathSeq: a customizable computational tool for the discovery and identification of microbial sequences in libraries from eukaryotic hosts.
Bioinformatics
; 34(24): 4287-4289, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982281
8.
Genomic organization and evolution of double minutes/homogeneously staining regions with MYC amplification in human cancer.
Nucleic Acids Res
; 42(14): 9131-45, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25034695
9.
Ring chromosomes, breakpoint clusters, and neocentromeres in sarcomas.
Genes Chromosomes Cancer
; 54(3): 156-67, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25421174
10.
A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons.
Genome Res
; 22(12): 2520-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22892276
11.
Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.
Sci Rep
; 12(1): 12025, 2022 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35835769
12.
Overexpression of schizophrenia susceptibility factor human complement C4A promotes excessive synaptic loss and behavioral changes in mice.
Nat Neurosci
; 24(2): 214-224, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353966
13.
A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.
Nat Commun
; 9(1): 1929, 2018 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769526
14.
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Nat Neurosci
; 19(12): 1563-1565, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27694993