Detalhe da pesquisa
1.
Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.
Am J Hum Genet
; 110(10): 1616-1627, 2023 10 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37802042
2.
The Pancreatic Cancer Early Detection (PRECEDE) Study is a Global Effort to Drive Early Detection: Baseline Imaging Findings in High-Risk Individuals.
J Natl Compr Canc Netw
; 22(3): 158-166, 2024 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38626807
3.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
J Med Genet
; 60(6): 568-575, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36600593
4.
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
Inglês
| MEDLINE | ID: mdl-37217257
5.
Great expectations: patients' preferences for clinically significant results from genomic sequencing.
Hum Genet
; 142(4): 553-562, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36943453
6.
How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey.
Genet Med
; 25(5): 100819, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36919843
7.
Development and early-stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient-driven approach.
Health Expect
; 26(2): 774-784, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36660874
8.
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
Hum Genet
; 141(12): 1875-1885, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-35739291
9.
"Game Changer": Health Professionals' Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management.
Oncologist
; 27(5): e393-e401, 2022 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35385106
10.
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings.
Hum Genet
; 140(3): 493-504, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-32892247
11.
Patient and public preferences for being recontacted with updated genomic results: a mixed methods study.
Hum Genet
; 140(12): 1695-1708, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34537903
12.
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.
Genet Med
; 23(6): 1086-1094, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33654192
13.
Health-care practitioners' preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment.
Genet Med
; 22(12): 2011-2019, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32820245
14.
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
Genet Med
; 22(11): 1892-1897, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32624572
15.
Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication.
Health Expect
; 23(4): 884-892, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32338425
16.
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Am J Hum Genet
; 98(5): 801-817, 2016 May 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27153395
17.
Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.
J Med Genet
; 55(9): 571-577, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30042185
18.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Hum Mutat
; 39(11): 1553-1568, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30311375
19.
A population-based analysis of germline BRCA1 and BRCA2 testing among ovarian cancer patients in an era of histotype-specific approaches to ovarian cancer prevention.
BMC Cancer
; 18(1): 254, 2018 03 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29506471
20.
CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome.
Hered Cancer Clin Pract
; 16: 7, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29541281