Detalhe da pesquisa
1.
The complete sequence of a human Y chromosome.
Nature
; 621(7978): 344-354, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37612512
2.
Telomere-to-telomere assembly of a complete human X chromosome.
Nature
; 585(7823): 79-84, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32663838
3.
Long-read mapping to repetitive reference sequences using Winnowmap2.
Nat Methods
; 19(6): 705-710, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35365778
4.
Selection for long and short sleep duration in Drosophila melanogaster reveals the complex genetic network underlying natural variation in sleep.
PLoS Genet
; 13(12): e1007098, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29240764
5.
iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations.
Proc Natl Acad Sci U S A
; 114(8): 1964-1969, 2017 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28167771
6.
The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas.
Cancer
; 124(1): 65-73, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940304
7.
Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing.
Cancer
; 123(17): 3261-3268, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28485815
8.
An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval.
Am J Hum Genet
; 94(6): 854-69, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24857694
9.
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
BMC Cancer
; 17(1): 127, 2017 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28193203
10.
Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans.
PLoS Genet
; 10(3): e1004190, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24603370
11.
The transcription factors Ets1 and Sox10 interact during murine melanocyte development.
Dev Biol
; 407(2): 300-12, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25912689
12.
Evaluation of variant detection software for pooled next-generation sequence data.
BMC Bioinformatics
; 16: 235, 2015 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220471
13.
Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.
PLoS Genet
; 8(8): e1002871, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22912592
14.
Shimmer: detection of genetic alterations in tumors using next-generation sequence data.
Bioinformatics
; 29(12): 1498-503, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23620360
15.
Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1.
BMC Cancer
; 14: 884, 2014 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25427824
16.
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
PLoS Genet
; 7(10): e1002325, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22022284
17.
Predisposition to cancer caused by genetic and functional defects of mammalian Atad5.
PLoS Genet
; 7(8): e1002245, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21901109
18.
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
Am J Hum Genet
; 86(5): 743-8, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20451169
19.
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
Am J Hum Genet
; 87(4): 560-6, 2010 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20920668
20.
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.
Genome Res
; 20(10): 1420-31, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20810667