Detalhe da pesquisa
1.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet
; 33(4): 355-373, 2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37944084
2.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37947183
3.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37924258
4.
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Genet Med
; 24(2): 430-438, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906486
5.
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Genet Med
; 24(11): 2399-2407, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36083289
6.
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Genet Med
; 23(5): 900-908, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33473208
7.
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Clin Genet
; 98(6): 613-619, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32888207
8.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30739909
9.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28771251
10.
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.
Can J Neurol Sci
; 45(1): 93-96, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29144225
11.
Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
Metab Brain Dis
; 33(4): 1369-1373, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29574624
12.
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
Am J Med Genet A
; 173(8): 2226-2230, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28602030
13.
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Epilepsia
; 56(5): 707-16, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25818041
14.
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
Mol Genet Metab
; 113(3): 171-6, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25266922
15.
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.
Int J Neonatal Screen
; 10(2)2024 Mar 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38651394
16.
Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.
CJC Pediatr Congenit Heart Dis
; 2(5): 211-218, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37970213
17.
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Mol Genet Metab
; 104(1-2): 160-6, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21700483
18.
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort.
Child Neurol Open
; 8: 2329048X211012817, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34017900
19.
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
Genes (Basel)
; 12(9)2021 08 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34573334
20.
Outcomes of patients with cobalamin C deficiency: A single center experience.
JIMD Rep
; 57(1): 102-114, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33473346