Detalhe da pesquisa
1.
Addressing the challenges of polygenic scores in human genetic research.
Am J Hum Genet
; 109(12): 2095-2100, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36459976
2.
Validation of low-pass genome sequencing for prenatal diagnosis.
Prenat Diagn
; 44(4): 443-453, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279846
3.
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
4.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598857
5.
Great expectations: patients' preferences for clinically significant results from genomic sequencing.
Hum Genet
; 142(4): 553-562, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943453
6.
Genome screening, reporting, and genetic counseling for healthy populations.
Hum Genet
; 142(2): 181-192, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331656
7.
"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing.
Genet Med
; 25(12): 100960, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577963
8.
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
em Inglês
| MEDLINE | ID: mdl-36919843
9.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
J Med Genet
; 59(6): 571-578, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875564
10.
Moving from intervention management to disease management: a qualitative study exploring a systems approach to health technology assessment in Canada.
Int J Technol Assess Health Care
; 39(1): e67, 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929295
11.
Principles of molecular testing for hereditary cancer.
Genes Chromosomes Cancer
; 61(6): 356-381, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35436018
12.
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
13.
"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
em Inglês
| MEDLINE | ID: mdl-35385106
14.
"Doctors shouldn't have to cheat the system": Clinicians' real-world experiences of the utility of genomic sequencing.
Genet Med
; 24(9): 1888-1898, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35612591
15.
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
16.
The clinical utility of exome and genome sequencing across clinical indications: a systematic review.
Hum Genet
; 140(10): 1403-1416, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368901
17.
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
em Inglês
| MEDLINE | ID: mdl-32892247
18.
Patient and public preferences for being recontacted with updated genomic results: a mixed methods study.
Hum Genet
; 140(12): 1695-1708, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34537903
19.
Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.
Genet Med
; 23(1): 22-33, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32921787
20.
Effect of genetics clinical decision support tools on health-care providers' decision making: a mixed-methods systematic review.
Genet Med
; 23(4): 593-602, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420345