Detalhe da pesquisa
1.
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Am J Med Genet A
; 191(3): 760-769, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495114
2.
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Circulation
; 144(1): 7-19, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33947203
3.
Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.
Hum Genet
; 140(2): 289-297, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627054
4.
Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada.
Can J Neurol Sci
; 47(1): 61-68, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587668
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30242101
6.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311378
7.
Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.
Genet Med
; 20(3): 365-368, 2018 Mar.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726806
9.
Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.
J Med Genet
; 53(3): 200-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378117
10.
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
CMAJ
; 188(11): E254-E260, 2016 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27241786
11.
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.
Am J Med Genet A
; 167(7): 1654-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899979
12.
Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants.
Hum Mutat
; 35(2): 265-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24282140
13.
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
14.
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Neurol Genet
; 9(1): e200048, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37077559
15.
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
medRxiv
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066275
16.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Genome Med
; 15(1): 86, 2023 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872640
17.
Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics.
Hum Mutat
; 33(7): 1021-30, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22431194
18.
Fragile X testing as a second-tier test.
Genet Med
; 19(12)2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28914265
19.
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
Am J Med Genet A
; 158A(9): 2091-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821852
20.
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