Search details
1.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38135915
2.
Rapidly developed, optimized, and applied wastewater surveillance system for real-time monitoring of low-incidence, high-impact MPOX outbreak.
J Water Health
; 21(9): 1264-1276, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37756194
3.
Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model.
Int J Mol Sci
; 24(4)2023 Feb 14.
Article
in English
| MEDLINE | ID: mdl-36835205
4.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 135(4): 350-356, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35279367
5.
Quantitation of phosphatidylethanols in dried blood spots to determine rates of prenatal alcohol exposure in Ontario.
Alcohol Clin Exp Res
; 46(2): 243-251, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34939205
6.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33597769
7.
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
Can J Neurol Sci
; 48(4): 504-511, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33059774
8.
The Covid-19 Pandemic Has Exposed Opportunities To Strengthen Our Health Research Systems.
Clin Invest Med
; 44(1): E5-6, 2021 03 21.
Article
in English
| MEDLINE | ID: mdl-33743570
9.
Separating the Wheat from the Chaff: The Use of Upstream Regulator Analysis to Identify True Differential Expression of Single Genes within Transcriptomic Datasets.
Int J Mol Sci
; 22(12)2021 Jun 11.
Article
in English
| MEDLINE | ID: mdl-34208365
10.
Transcriptomic RNAseq drug screen in cerebrocortical cultures: toward novel neurogenetic disease therapies.
Hum Mol Genet
; 27(18): 3206-3217, 2018 09 15.
Article
in English
| MEDLINE | ID: mdl-29901742
11.
A National Spinal Muscular Atrophy Registry for Real-World Evidence.
Can J Neurol Sci
; 47(6): 810-815, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32493524
12.
Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.
Genet Med
; 21(5): 1049-1057, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30245512
13.
Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
Nat Rev Genet
; 14(10): 681-91, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23999272
14.
The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.
Paediatr Child Health
; 23(1): 20-26, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-29479275
15.
Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE).
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 121-128, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27615426
16.
Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.
Can J Neurol Sci
; 49(6): 821-823, 2022 11.
Article
in English
| MEDLINE | ID: mdl-34620260
17.
Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation.
Hum Mol Genet
; 22(17): 3415-24, 2013 Sep 01.
Article
in English
| MEDLINE | ID: mdl-23656793
18.
The determination of purine crystal structures: an overlooked prequel to the discovery of the double helix.
Genome
; 62(1): 43-44, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30485127
19.
Corrigendum: Wastewater-based surveillance identifies start to the pediatric respiratory syncytial virus season in two cities in Ontario, Canada.
Front Public Health
; 12: 1354693, 2024.
Article
in English
| MEDLINE | ID: mdl-38333738
20.
Impact of coagulation on SARS-CoV-2 and PMMoV viral signal in wastewater solids.
Environ Sci Pollut Res Int
; 31(4): 5242-5253, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38112868