Detalles de la búsqueda
1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37924259
2.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36353900
3.
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Am J Med Genet A
; 191(2): 338-347, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36331261
4.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Am J Med Genet A
; 185(10): 3005-3011, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34145744
5.
Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory.
J Med Genet
; 56(6): 408-412, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30242101
6.
Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.
Am J Med Genet A
; 194(2): 397-399, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37795829
7.
Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.
Genet Med
; 20(3): 365-368, 2018 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-29240080
8.
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Genet Med
; 20(3): 294-302, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28726806
9.
Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.
Am J Med Genet A
; 167A(2): 403-6, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25425531
10.
Congenital tremor and myopathy secondary to novel MYBPC1 variant.
J Neurol Sci
; 457: 122864, 2024 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38185014
11.
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.
Clin Ther
; 45(8): 702-709, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37453830
12.
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
CMAJ Open
; 10(2): E460-E465, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35609929
13.
Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories.
J Mol Diagn
; 21(4): 602-611, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31028938
14.
Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting.
J Mol Diagn
; 21(3): 437-448, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30731207
Resultados
1 -
14
de 14
1
Próxima >
>>