Detalhe da pesquisa
1.
The majority of animal genes are required for wild-type fitness.
Cell
; 148(4): 792-802, 2012 Feb 17.
Artigo
Inglês
| MEDLINE | ID: mdl-22341449
2.
Trio RNA sequencing in a cohort of medically complex children.
Am J Hum Genet
; 110(5): 895-900, 2023 05 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36990084
3.
Evaluation of single-cell RNAseq labelling algorithms using cancer datasets.
Brief Bioinform
; 24(1)2023 01 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36585784
4.
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
Inglês
| MEDLINE | ID: mdl-36353900
5.
PhenomeCentral: 7 years of rare disease matchmaking.
Hum Mutat
; 43(6): 674-681, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35165961
6.
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
Inglês
| MEDLINE | ID: mdl-35181971
7.
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Hum Mutat
; 43(9): 1268-1285, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35475554
8.
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
Inglês
| MEDLINE | ID: mdl-30827497
9.
MetaFusion: a high-confidence metacaller for filtering and prioritizing RNA-seq gene fusion candidates.
Bioinformatics
; 37(19): 3144-3151, 2021 Oct 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33944895
10.
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
Inglês
| MEDLINE | ID: mdl-24910101
11.
CReSCENT: CanceR Single Cell ExpressioN Toolkit.
Nucleic Acids Res
; 48(W1): W372-W379, 2020 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32479601
12.
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
Inglês
| MEDLINE | ID: mdl-32084423
13.
Modeling the conversion between specific IgE test platforms for nut allergens in children and adolescents.
Allergy
; 76(3): 831-841, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32738829
14.
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
Inglês
| MEDLINE | ID: mdl-33300157
15.
Identification of complex genomic rearrangements in cancers using CouGaR.
Genome Res
; 27(1): 107-117, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27986820
16.
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
Inglês
| MEDLINE | ID: mdl-28716093
17.
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
Inglês
| MEDLINE | ID: mdl-31051109
18.
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
Inglês
| MEDLINE | ID: mdl-24516395
19.
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
Clin Genet
; 99(5): 746-748, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33576074
20.
Global impact of RNA polymerase II elongation inhibition on alternative splicing regulation.
Genome Res
; 21(3): 390-401, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21163941