Detalhe da pesquisa
1.
Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions.
Genome Res
; 32(1): 203-213, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34764149
2.
Intratumoral presence of the genotoxic gut bacteria pks+ E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer.
Br J Cancer
; 130(5): 728-740, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38200234
3.
Oncomicrobial Community Profiling Identifies Clinicomolecular and Prognostic Subtypes of Colorectal Cancer.
Gastroenterology
; 165(1): 104-120, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-36933623
4.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
J Transl Med
; 21(1): 282, 2023 04 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37101184
5.
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.
Gut
; 70(11): 2138-2149, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33414168
6.
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.
Hum Genomics
; 11(1): 10, 2017 05 16.
Artigo
Inglês
| MEDLINE | ID: mdl-28511696
7.
sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data.
Int J Mol Sci
; 19(10)2018 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30326623
8.
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
Hum Mutat
; 38(5): 548-555, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28150386
9.
UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing.
BMC Bioinformatics
; 17: 165, 2016 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-27083325
10.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Genet Med
; 18(11): 1090-1096, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-26938784
11.
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.
Fam Cancer
; 23(1): 9-21, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38063999
12.
Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.
medRxiv
; 2024 Jan 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37090539
13.
Body size and risk of colorectal cancer molecular defined subtypes and pathways: Mendelian randomization analyses.
EBioMedicine
; 101: 105010, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38350331
14.
Epidemiologic Factors in Relation to Colorectal Cancer Risk and Survival by Genotoxic Colibactin Mutational Signature.
Cancer Epidemiol Biomarkers Prev
; 33(4): 534-546, 2024 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38252034
15.
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.
Fam Cancer
; 22(4): 423-428, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37318702
16.
Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.
J Mol Diagn
; 25(2): 94-109, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36396080
17.
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
Clin Epigenetics
; 15(1): 95, 2023 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37270516
18.
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Cancers (Basel)
; 15(20)2023 Oct 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37894291
19.
Body mass index and molecular subtypes of colorectal cancer.
J Natl Cancer Inst
; 115(2): 165-173, 2023 02 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36445035
20.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
medRxiv
; 2023 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36909643