Detalhe da pesquisa
1.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587489
2.
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Am J Hum Genet
; 108(1): 176-185, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33245860
3.
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
4.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36353900
6.
ExPeCT: a randomised trial examining the impact of exercise on quality of life in men with metastatic prostate cancer.
Support Care Cancer
; 31(5): 292, 2023 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086362
7.
Reversible suppression of T cell function in the bone marrow microenvironment of acute myeloid leukemia.
Proc Natl Acad Sci U S A
; 117(25): 14331-14341, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32513686
8.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929737
9.
EphA2 contributes to disruption of the blood-brain barrier in cerebral malaria.
PLoS Pathog
; 16(1): e1008261, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999807
10.
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.
J Med Genet
; 58(4): 284-288, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376792
11.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239752
12.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473207
13.
Dual molecular diagnoses in a neurometabolic specialty clinic.
Am J Med Genet A
; 185(3): 766-773, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369152
14.
Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population.
Am J Med Genet A
; 185(2): 486-499, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300680
15.
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.
Brain
; 143(1): 94-111, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855247
16.
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Hum Mol Genet
; 27(21): 3710-3719, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30085106
17.
A comparison of prostate cancer cell transcriptomes in 2D monoculture vs 3D xenografts identify consistent gene expression alterations associated with tumor microenvironments.
Prostate
; 80(6): 491-499, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32068909
18.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet
; 100(1): 117-127, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017373
19.
Transcriptome analysis of hypoxic cancer cells uncovers intron retention in EIF2B5 as a mechanism to inhibit translation.
PLoS Biol
; 15(9): e2002623, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28961236
20.
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Am J Med Genet A
; : e63590, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477541