Detalhe da pesquisa
1.
The majority of animal genes are required for wild-type fitness.
Cell
; 148(4): 792-802, 2012 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22341449
2.
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
3.
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
4.
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
5.
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
6.
A pair of RNA-binding proteins controls networks of splicing events contributing to specialization of neural cell types.
Mol Cell
; 54(6): 946-959, 2014 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24910101
7.
CReSCENT: CanceR Single Cell ExpressioN Toolkit.
Nucleic Acids Res
; 48(W1): W372-W379, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32479601
8.
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
9.
Basophil activation test shows high accuracy in the diagnosis of peanut and tree nut allergy: The Markers of Nut Allergy Study.
Allergy
; 76(6): 1800-1812, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300157
10.
Identification of complex genomic rearrangements in cancers using CouGaR.
Genome Res
; 27(1): 107-117, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27986820
11.
C. elegans SUP-46, an HNRNPM family RNA-binding protein that prevents paternally-mediated epigenetic sterility.
BMC Biol
; 15(1): 61, 2017 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28716093
12.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(5): 1007, 2019 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051109
13.
Comparative RNAi screens in C. elegans and C. briggsae reveal the impact of developmental system drift on gene function.
PLoS Genet
; 10(2): e1004077, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24516395
14.
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
Clin Genet
; 99(5): 746-748, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576074
15.
Global impact of RNA polymerase II elongation inhibition on alternative splicing regulation.
Genome Res
; 21(3): 390-401, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21163941
16.
Genome-wide analysis of alternative splicing in Caenorhabditis elegans.
Genome Res
; 21(2): 342-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21177968
17.
Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing.
J Mol Diagn
; 25(12): 921-931, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37748705
18.
Conserved transcriptional programming across sex and species after peripheral nerve injury predicts treatments for neuropathic pain.
Br J Pharmacol
; 180(21): 2822-2836, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37336547
19.
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nat Cancer
; 4(2): 203-221, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585449
20.
Evaluation of single-cell RNA-seq clustering algorithms on cancer tumor datasets.
Comput Struct Biotechnol J
; 20: 6375-6387, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36420149