Detalhe da pesquisa
1.
Trio RNA sequencing in a cohort of medically complex children.
Am J Hum Genet
; 110(5): 895-900, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36990084
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.
Evaluation of single-cell RNAseq labelling algorithms using cancer datasets.
Brief Bioinform
; 24(1)2023 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585784
4.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243864
5.
Use of artificial intelligence for decision-support to avoid high-risk behaviors during laparoscopic cholecystectomy.
Surg Endosc
; 37(12): 9467-9475, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37697115
6.
What is the educational value and clinical utility of artificial intelligence for intraoperative and postoperative video analysis? A survey of surgeons and trainees.
Surg Endosc
; 37(12): 9453-9460, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37697116
7.
The promises and challenges of clinical AI in community paediatric medicine.
Paediatr Child Health
; 28(4): 212-217, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37287484
8.
PhenomeCentral: 7 years of rare disease matchmaking.
Hum Mutat
; 43(6): 674-681, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165961
9.
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Hum Mutat
; 43(6): 800-811, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181971
10.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827497
11.
MetaFusion: a high-confidence metacaller for filtering and prioritizing RNA-seq gene fusion candidates.
Bioinformatics
; 37(19): 3144-3151, 2021 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33944895
12.
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
13.
CReSCENT: CanceR Single Cell ExpressioN Toolkit.
Nucleic Acids Res
; 48(W1): W372-W379, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32479601
14.
Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse.
J Neurosci
; 40(23): 4576-4585, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341096
15.
Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome.
Hum Mol Genet
; 28(3): 372-385, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239726
16.
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Gastroenterology
; 158(8): 2208-2220, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32084423
17.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
; 47(D1): D1018-D1027, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476213
18.
EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.
Hum Mutat
; 41(10): 1722-1733, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32623772
19.
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Am J Hum Genet
; 100(5): 773-788, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475860
20.
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Am J Hum Genet
; 100(5): 695-705, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475856