Detalles de la búsqueda
1.
Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.
Genet Med
; : 101173, 2024 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38828700
2.
The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing.
J Genet Couns
; 31(4): 887-900, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35128755
3.
After genomic testing results: Parents' long-term views.
J Genet Couns
; 31(1): 82-95, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34165210
4.
Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genet Med
; 22(9): 1570, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32651549
5.
The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.
Genet Med
; 22(9): 1437-1449, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32576987
6.
Renpenning syndrome in a female.
Am J Med Genet A
; 182(3): 498-503, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31840929
7.
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
J Med Genet
; 55(5): 316-321, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29599419
8.
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Genet Med
; 20(9): 1013-1021, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29300375
9.
Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
J Genet Couns
; 2018 Jul 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-30033481
10.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Am J Hum Genet
; 94(6): 809-17, 2014 Jun 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-24906018
11.
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Am J Med Genet A
; 173(11): 3087-3092, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28898540
12.
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
J Med Genet
; 52(7): 431-7, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25951830
13.
Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.
J Nurs Scholarsh
; 48(3): 265-75, 2016 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27061758
14.
Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases.
J Med Ethics
; 40(10): 691-6, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24356209
15.
Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing.
Am J Med Genet A
; 161A(3): 542-9, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23401068
16.
Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study.
J Telemed Telecare
; 29(4): 318-327, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-33470133
17.
Genetic diagnosis through whole-exome sequencing.
N Engl J Med
; 370(11): 1067-8, 2014 03 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-24620874
18.
"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.
Am J Med Genet A
; 158A(10): 2519-25, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22903777
19.
A personalized genomic results e-booklet, co-designed and pilot-tested by families.
PEC Innov
; 1: 100039, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37213729
20.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35599849