Detalhe da pesquisa
1.
Association of plasma biomarkers with cognition, cognitive decline, and daily function across and within neurodegenerative diseases: Results from the Ontario Neurodegenerative Disease Research Initiative.
Alzheimers Dement;
20(3): 1753-1770, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38105605
2.
Characteristics of the Ontario Neurodegenerative Disease Research Initiative cohort.
Alzheimers Dement;
19(1): 226-243, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36318754
3.
Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation.
Europace;
23(6): 844-850, 2021 06 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33682005
4.
Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.
Brain;
142(11): 3375-3381, 2019 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31580390
5.
Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia.
J Lipid Res;
60(11): 1953-1958, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31519763
6.
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Hum Mol Genet;
26(21): 4278-4289, 2017 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28973161
7.
Targeted sequencing reveals expanded genetic diversity of human transfer RNAs.
RNA Biol;
16(11): 1574-1585, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31407949
8.
Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative.
Can J Neurol Sci;
46(5): 491-498, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31217043
9.
Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia.
J Lipid Res;
58(11): 2202-2209, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28874442
10.
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
J Lipid Res;
58(11): 2162-2170, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28870971
11.
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
Arterioscler Thromb Vasc Biol;
36(12): 2439-2445, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27765764
12.
Whole-genome sequencing in French Canadians from Quebec.
Hum Genet;
135(11): 1213-1221, 2016 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27376640
13.
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
J Med Genet;
52(10): 666-75, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26246518
14.
Targeted next-generation sequencing in monogenic dyslipidemias.
Curr Opin Lipidol;
26(2): 103-13, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25692347
15.
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
J Lipid Res;
55(4): 765-72, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24503134
16.
Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young.
Clin Genet;
96(4): 376-377, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31309534
17.
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
Epilepsia;
55(9): e106-11, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25060828
18.
Cost-effectiveness of a gene sequencing test for Alzheimer's disease in Ontario.
J Community Genet;
14(2): 135-147, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36434378
19.
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
Am J Hum Genet;
84(2): 134-47, 2009 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19185282
20.
Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.
Can J Diabetes;
45(1): 71-77, 2021 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33011132