Detalhe da pesquisa
1.
Non-coding recurrent mutations in chronic lymphocytic leukaemia.
Nature
; 526(7574): 519-24, 2015 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26200345
2.
Altered patterns of global protein synthesis and translational fidelity in RPS15-mutated chronic lymphocytic leukemia.
Blood
; 132(22): 2375-2388, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181176
3.
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Nature
; 475(7354): 101-5, 2011 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21642962
4.
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
J Med Genet
; 53(11): 776-785, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27334370
5.
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Genet Med
; 18(4): 325-32, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26133394
6.
Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes.
Hum Reprod
; 31(12): 2881-2891, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27827323
7.
Landscape of somatic mutations and clonal evolution in mantle cell lymphoma.
Proc Natl Acad Sci U S A
; 110(45): 18250-5, 2013 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24145436
8.
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Am J Hum Genet
; 88(5): 650-6, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549337
9.
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
BMC Med Genet
; 15: 51, 2014 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886349
10.
Transplacental transfer of essential thrombocythemia in monozygotic twins.
Blood
; 128(14): 1894-1896, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27512155
11.
Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance.
Dis Model Mech
; 11(5)2018 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29666142
12.
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Nat Commun
; 5: 5326, 2014 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351925
13.
Estimation of copy number alterations from exome sequencing data.
PLoS One
; 7(12): e51422, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23284693
14.
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.
Nat Genet
; 44(1): 47-52, 2011 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22158541