Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37924259
2.
Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations.
Genet Med;
25(11): 100948, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37551668
3.
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36353900
4.
Correction: The value of diagnostic testing for parents of children with rare genetic diseases.
Genet Med;
21(11): 2662, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31316168
5.
The value of diagnostic testing for parents of children with rare genetic diseases.
Genet Med;
21(12): 2798-2806, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31239560
6.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Hum Mutat;
39(8): 1126-1138, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29851191
7.
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
Ann Neurol;
91(5): 730-732, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34825409
8.
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.
Am J Med Genet A;
173(7): 1839-1847, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28488422
9.
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37453830
10.
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35609929
11.
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
Child Neurol Open;
8: 2329048X211031059, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34796249
12.
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.
J Neuromuscul Dis;
6(3): 333-339, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31356216
13.
Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
J Child Neurol;
33(5): 329-332, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29421991