Detalhe da pesquisa
1.
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
J Med Genet
; 60(6): 523-532, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36822643
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331261
4.
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Am J Med Genet A
; 191(2): 510-517, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401557
5.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373813
6.
Strategic Variants of CSP Delivered as SynDNA Vaccines Demonstrate Heterogeneity of Immunogenicity and Protection from Plasmodium Infection in a Murine Model.
Infect Immun
; 89(10): e0072820, 2021 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152830
7.
Delineating the expanding phenotype of HERC2-related disorders: The impact of biallelic loss of function versus missense variation.
Clin Genet
; 100(5): 637-640, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34370298
8.
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
9.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187503
10.
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.
Am J Med Genet C Semin Med Genet
; 178(4): 458-463, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580481
11.
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
12.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A
; 176(5): 1128-1136, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681090
13.
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Nat Commun
; 14(1): 7054, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923733
14.
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.
Genes (Basel)
; 13(11)2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360262
15.
A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome.
Sci Rep
; 11(1): 9560, 2021 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33953269
16.
Genetic mechanisms of neurodevelopmental disorders.
Handb Clin Neurol
; 173: 307-326, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32958182
17.
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.
Eur J Med Genet
; 63(2): 103655, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31034989
18.
Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Nat Commun
; 15(1): 3655, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38688929
19.
Cysteinyl leukotriene signaling through perinuclear CysLT(1) receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression.
J Mol Med (Berl)
; 90(10): 1223-31, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22527886