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1.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34715011
2.
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
3.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A
; 194(3): e63466, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-37949664
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37551668
5.
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
6.
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
7.
PhenomeCentral: 7 years of rare disease matchmaking.
Hum Mutat
; 43(6): 674-681, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35165961
8.
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.
Genet Med
; 24(3): 694-702, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906497
9.
Correction: The value of diagnostic testing for parents of children with rare genetic diseases.
Genet Med
; 21(11): 2662, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31316168
10.
Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.
Genet Med
; 21(5): 1049-1057, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30245512
11.
The value of diagnostic testing for parents of children with rare genetic diseases.
Genet Med
; 21(12): 2798-2806, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31239560
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29851191
13.
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
Ann Neurol
; 91(5): 730-732, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34825409
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28488422
15.
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
16.
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
17.
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
Child Neurol Open
; 8: 2329048X211031059, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34796249
18.
Healthy movement behaviours in children and youth during the COVID-19 pandemic: Exploring the role of the neighbourhood environment.
Health Place
; 65: 102418, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32871499
19.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31356216
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29421991