Detalhe da pesquisa
1.
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
2.
"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
3.
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
4.
"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
5.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616647
6.
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
7.
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
8.
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
J Med Genet
; 52(9): 575-84, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26136524
9.
"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screening.
Eur J Hum Genet
; 32(2): 176-181, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37821757
10.
Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings.
Eur J Hum Genet
; 30(5): 595-603, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33776058
11.
Challenges and practical solutions for managing secondary genomic findings in primary care.
Eur J Med Genet
; 65(1): 104384, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768014
12.
Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery.
BMJ Open
; 12(4): e060899, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35487723
13.
DNA Variant in the RPGRIP1L Gene Influences Alternative Splicing.
Mol Neuropsychiatry
; 5(Suppl 1): 97-106, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399473
14.
Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial.
BMJ Open
; 9(10): e031092, 2019 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31594892
15.
VarScan2 analysis of de novo variants in monozygotic twins discordant for schizophrenia.
Psychiatr Genet
; 27(2): 62-70, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125460