Detalhe da pesquisa
1.
Comprehensive Analysis of Hypermutation in Human Cancer.
Cell
; 171(5): 1042-1056.e10, 2017 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29056344
2.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Lancet Oncol
; 25(5): 668-682, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552658
3.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Clin Chem
; 70(5): 737-746, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531023
4.
Development of a comprehensive approach to adult hereditary cancer testing in Ontario.
J Med Genet
; 60(8): 769-775, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564171
5.
A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
J Med Genet
; 60(8): 733-739, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217257
6.
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Hum Genet
; 142(3): 321-330, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36629921
7.
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
J Med Genet
; 59(4): 318-327, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33622763
8.
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
Hum Genet
; 141(12): 1875-1885, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35739291
9.
Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.
Int J Gynecol Cancer
; 32(7): 891-898, 2022 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35012974
10.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581083
11.
MLH1 epimutation is a rare mechanism for Lynch syndrome: A case report and review of the literature.
Genes Chromosomes Cancer
; 60(9): 635-639, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33934415
12.
Maximizing cancer prevention through genetic navigation for Lynch syndrome detection in women with newly diagnosed endometrial and nonserous/nonmucinous epithelial ovarian cancer.
Cancer
; 127(17): 3082-3091, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33983630
13.
Understanding the clinical implication of mismatch repair deficiency in endometrioid endometrial cancer through a prospective study.
Gynecol Oncol
; 161(1): 221-227, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33478752
14.
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
J Med Genet
; 57(7): 505-508, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501241
15.
Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.
Cancer
; 126(22): 4886-4894, 2020 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32809219
16.
Cost-effectiveness of Active Identification and Subsequent Colonoscopy Surveillance of Lynch Syndrome Cases.
Clin Gastroenterol Hepatol
; 18(12): 2760-2767.e12, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31629885
17.
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.
Genet Med
; 22(4): 727-735, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822848
18.
Tumor site discordance in mismatch repair deficiency in synchronous endometrial and ovarian cancers.
Int J Gynecol Cancer
; 30(12): 1951-1958, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082239
19.
Telephone versus in-person colorectal cancer risk and screening intervention for first-degree relatives: A randomized controlled trial.
Cancer
; 125(13): 2272-2282, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30861097
20.
The impact of health anxiety on perceptions of personal and children's health in parents with Lynch syndrome.
J Genet Couns
; 28(3): 495-506, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30638287