Detalhe da pesquisa
1.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
2.
A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources.
Can J Neurol Sci
; : 1-12, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38178730
3.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genet Med
; 25(9): 100897, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191094
4.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
J Med Genet
; 59(10): 931-937, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544840
5.
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
J Med Genet
; 59(8): 727-736, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393334
6.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
J Med Genet
; 59(6): 571-578, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875564
7.
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Hum Mol Genet
; 29(20): 3388-3401, 2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073849
8.
Association of sleep spindle characteristics with executive functioning in healthy sedentary middle-aged and older adults.
J Sleep Res
; 30(2): e13037, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32281182
9.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet
; 101(5): 815-823, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100092
10.
Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders.
Genet Med
; 22(6): 1036-1039, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152462
11.
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.
Clin Genet
; 97(6): 835-843, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162313
12.
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
J Med Genet
; 56(12): 792-800, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300550
13.
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Am J Hum Genet
; 97(6): 862-8, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608784
14.
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Am J Hum Genet
; 97(6): 886-93, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637978
15.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637982
16.
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
17.
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
Am J Med Genet A
; 176(11): 2487-2493, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244537
18.
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.
J Obstet Gynaecol Can
; 40(11): 1417-1423, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30473118
19.
Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy.
J Genet Couns
; 27(1): 124-130, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28699125
20.
Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
J Cell Mol Med
; 21(10): 2329-2343, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28409910