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Author Details
Full Name
Michael Brudno
Affiliation
University of Toronto
ORCID
Career Start Year
2000
Papers
135
H Index
47
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36166535
ChartWalk: Navigating large collections of text notes in electronic health records for clinical chart review.
IEEE Trans Vis Comput Graph
2023
37748705
Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing.
J Mol Diagn
2023
37287484
The promises and challenges of clinical AI in community paediatric medicine.
Paediatr Child Health
2023
36990084
Trio RNA sequencing in a cohort of medically complex children.
Am J Hum Genet
2023
37073374
COVID-19 vaccine antibody responses in community-dwelling adults to 48Â weeks post primary vaccine series.
iScience
2023
37336547
Conserved transcriptional programming across sex and species after peripheral nerve injury predicts treatments for neuropathic pain.
Br J Pharmacol
2023
37202401
Developing OCHROdb, a comprehensive quality checked database of open chromatin regions from sequencing data.
Sci Rep
2023
36585784
Evaluation of single-cell RNAseq labelling algorithms using cancer datasets.
Brief Bioinform
2023
35165961
PhenomeCentral: 7 years of rare disease matchmaking.
Hum Mutat
2022
36420149
Evaluation of single-cell RNA-seq clustering algorithms on cancer tumor datasets.
Comput Struct Biotechnol J
2022
36332610
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.
Am J Hum Genet
2022
35102191
Splicing is an alternate oncogenic pathway activation mechanism in glioma.
Nat Commun
2022
35181971
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Hum Mutat
2022
35087180
PhenoPad: Building AI enabled note-taking interfaces for patient encounters.
NPJ Digit Med
2022
35294539
Assessment of Machine Learning-Based Medical Directives to Expedite Care in Pediatric Emergency Medicine.
JAMA Netw Open
2022
33397769
A Cross-Sectional Study of Nemaline Myopathy.
Neurology
2021
36778585
CanDIG: Federated network across Canada for multi-omic and health data discovery and analysis.
Cell Genom
2021
33592074
Prospective observational study and serosurvey of SARS-CoV-2 infection in asymptomatic healthcare workers at a Canadian tertiary care center.
PLoS One
2021
35128509
International federation of genomic medicine databases using GA4GH standards.
Cell Genom
2021
35072136
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell Genom
2021
34820133
A Canadian Study of Cisplatin Metabolomics and Nephrotoxicity (ACCENT): A Clinical Research Protocol.
Can J Kidney Health Dis
2021
34493718
Automatically disambiguating medical acronyms with ontology-aware deep learning.
Nat Commun
2021
34667013
Creation of an electronic patient-reported outcome measure platform Voxe: a mixed methods study protocol in paediatric solid organ transplantation.
BMJ Open
2021
34016710
Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly.
Neurology
2021
33944895
MetaFusion: a high-confidence metacaller for filtering and prioritizing RNA-seq gene fusion candidates.
Bioinformatics
2021
32366968
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Genet Med
2020
33644412
Essential requirements for establishing and operating data trusts: practical guidance co-developed by representatives from fifteen canadian organizations and initiatives.
Int J Popul Data Sci
2020
32084423
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
2020
32799817
Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation.
J Neurodev Disord
2020
32623772
EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.
Hum Mutat
2020
32341096
Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse.
J Neurosci
2020
32555415
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Genet Med
2020
32479601
CReSCENT: CanceR Single Cell ExpressioN Toolkit.
Nucleic Acids Res
2020
30476213
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
2019
31875540
Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1.
Cell Rep
2019
31639040
Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.
Clin Epigenetics
2019
31409384
DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.
Clin Epigenetics
2019
31288860
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
BMC Med Genomics
2019
31125434
Extract and component-specific sensitization patterns in Canadian moderate-to-severe preschool asthmatics.
Allergy
2019
31094361
Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning.
JMIR Med Inform
2019
30827497
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
2019
30821575
Don't brush off buccal data heterogeneity.
Epigenetics
2019
31051109
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
2019
28866570
PhenoLines: Phenotype Comparison Visualizations for Disease Subtyping via Topic Models.
IEEE Trans Vis Comput Graph
2018
30069064
Registered access: authorizing data access.
Eur J Hum Genet
2018
30136959
Doccurate: A Curation-Based Approach for Clinical Text Visualization.
IEEE Trans Vis Comput Graph
2018
30451841
Tamoxifen therapy in a murine model of myotubular myopathy.
Nat Commun
2018
29425702
Harmonising phenomics information for a better interoperability in the rare disease field.
Eur J Med Genet
2018
27514055
PhenoStacks: Cross-Sectional Cohort Phenotype Comparison Visualizations.
IEEE Trans Vis Comput Graph
2017
28475860
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Am J Hum Genet
2017
1 - 50 of 135
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McGill University
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Taila Hartley
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Stephanie O M Dyke
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