Detalhe da pesquisa
1.
Comprehensive Characterization of Cancer Driver Genes and Mutations.
Cell
; 173(2): 371-385.e18, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625053
2.
3D genomic mapping reveals multifocality of human pancreatic precancers.
Nature
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693266
3.
Comprehensive Characterization of Cancer Driver Genes and Mutations.
Cell
; 174(4): 1034-1035, 2018 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30096302
4.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet
; 109(12): 2163-2177, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413997
5.
Estimation of cancer cell fractions and clone trees from multi-region sequencing of tumors.
Bioinformatics
; 38(15): 3677-3683, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35642899
6.
Assessing aneuploidy with repetitive element sequencing.
Proc Natl Acad Sci U S A
; 117(9): 4858-4863, 2020 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32075918
7.
Multiregion whole-exome sequencing of intraductal papillary mucinous neoplasms reveals frequent somatic KLF4 mutations predominantly in low-grade regions.
Gut
; 70(5): 928-939, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33028669
8.
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
Am J Hum Genet
; 102(2): 233-248, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394989
9.
The genomic landscape of response to EGFR blockade in colorectal cancer.
Nature
; 526(7572): 263-7, 2015 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26416732
10.
Detection of aneuploidy in patients with cancer through amplification of long interspersed nucleotide elements (LINEs).
Proc Natl Acad Sci U S A
; 115(8): 1871-1876, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432176
11.
Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations.
Gastroenterology
; 157(4): 1123-1137.e22, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175866
12.
Single-cell sequencing defines genetic heterogeneity in pancreatic cancer precursor lesions.
J Pathol
; 247(3): 347-356, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30430578
13.
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Hum Mutat
; 40(9): 1530-1545, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301157
14.
Network Analysis of Protein Adaptation: Modeling the Functional Impact of Multiple Mutations.
Mol Biol Evol
; 35(6): 1507-1519, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29522102
15.
Evaluating the evaluation of cancer driver genes.
Proc Natl Acad Sci U S A
; 113(50): 14330-14335, 2016 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27911828
16.
IPMNs with co-occurring invasive cancers: neighbours but not always relatives.
Gut
; 67(9): 1652-1662, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29500184
17.
Bridging the Chromosome-centric and Biology/Disease-driven Human Proteome Projects: Accessible and Automated Tools for Interpreting the Biological and Pathological Impact of Protein Sequence Variants Detected via Proteogenomics.
J Proteome Res
; 17(12): 4329-4336, 2018 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30130115
18.
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.
Hum Mutat
; 38(9): 1266-1276, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544481
19.
Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.
Hum Mol Genet
; 24(7): 1908-17, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25489051
20.
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.
Hum Mol Genet
; 24(21): 5995-6002, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246501