Detalhe da pesquisa
1.
WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.
Hum Mol Genet
; 30(24): 2429-2440, 2021 11 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34274970
2.
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype.
J Med Genet
; 59(7): 644-651, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34281993
3.
Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.
PLoS Genet
; 16(2): e1008572, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32012149
4.
Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease-Associated Colorectal Cancer.
Gastroenterology
; 161(2): 592-607, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33930428
5.
Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.
Vascular
; 30(5): 842-847, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34281442
6.
No evidence of EMAST in whole genome sequencing data from 248 colorectal cancers.
Genes Chromosomes Cancer
; 60(7): 463-473, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33527622
7.
Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
PLoS Genet
; 14(3): e1007200, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29522538
8.
Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers.
Br J Cancer
; 120(9): 922-930, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30894686
9.
Candidate susceptibility variants for esophageal squamous cell carcinoma.
Genes Chromosomes Cancer
; 56(6): 453-459, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28165652
10.
Clonally related uterine leiomyomas are common and display branched tumor evolution.
Hum Mol Genet
; 24(15): 4407-16, 2015 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25964426
11.
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Blood
; 125(4): 639-48, 2015 Jan 22.
Artigo
Inglês
| MEDLINE | ID: mdl-25349174
12.
Characterization of uterine leiomyomas by whole-genome sequencing.
N Engl J Med
; 369(1): 43-53, 2013 Jul 04.
Artigo
Inglês
| MEDLINE | ID: mdl-23738515
13.
Eleven candidate susceptibility genes for common familial colorectal cancer.
PLoS Genet
; 9(10): e1003876, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24146633
14.
Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.
Blood
; 121(17): 3428-30, 2013 Apr 25.
Artigo
Inglês
| MEDLINE | ID: mdl-23457195
15.
Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer.
Int J Cancer
; 135(3): 611-23, 2014 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24382590
16.
Identification of candidate oncogenes in human colorectal cancers with microsatellite instability.
Gastroenterology
; 145(3): 540-3.e22, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23684749
17.
Genome-wide somatic mutation analysis of sinonasal adenocarcinoma with and without wood dust exposure.
Genes Environ
; 46(1): 12, 2024 May 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38711096
18.
Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.
Sci Rep
; 14(1): 11562, 2024 05 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38773237
19.
Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.
Scand J Gastroenterol
; 48(6): 672-8, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23544471
20.
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.
Genome Med
; 15(1): 47, 2023 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37420249