Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.
Am J Hum Genet
; 109(11): 1947-1959, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332610
3.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
4.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
5.
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
6.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
7.
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
J Hum Genet
; 69(2): 101-105, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904029
8.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
9.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
10.
Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder.
Am J Med Genet A
; 191(10): 2640-2646, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340855
11.
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.
Genet Med
; 24(1): 100-108, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906465
12.
A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype.
Am J Med Genet A
; 188(8): 2421-2428, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593535
13.
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Am J Med Genet A
; 188(6): 1667-1675, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35146895
14.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Genet Med
; 23(10): 1889-1900, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113007
15.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244665
16.
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
Am J Med Genet A
; 185(11): 3502-3506, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405953
17.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098347
18.
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Clin Genet
; 98(1): 10-18, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32233106
19.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain
; 142(3): 542-559, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668673
20.
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