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Author Details

Michael Brudno
University of Toronto
2000
135
47
PMIDPaper TitleJournal TitlePublished Year
36166535ChartWalk: Navigating large collections of text notes in electronic health records for clinical chart review.IEEE Trans Vis Comput Graph2023
37748705Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing.J Mol Diagn2023
37287484The promises and challenges of clinical AI in community paediatric medicine.Paediatr Child Health2023
36990084Trio RNA sequencing in a cohort of medically complex children.Am J Hum Genet2023
37073374COVID-19 vaccine antibody responses in community-dwelling adults to 48 weeks post primary vaccine series.iScience2023
37336547Conserved transcriptional programming across sex and species after peripheral nerve injury predicts treatments for neuropathic pain.Br J Pharmacol2023
37202401Developing OCHROdb, a comprehensive quality checked database of open chromatin regions from sequencing data.Sci Rep2023
36585784Evaluation of single-cell RNAseq labelling algorithms using cancer datasets.Brief Bioinform2023
35165961PhenomeCentral: 7 years of rare disease matchmaking.Hum Mutat2022
36420149Evaluation of single-cell RNA-seq clustering algorithms on cancer tumor datasets.Comput Struct Biotechnol J2022
36332610Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.Am J Hum Genet2022
35102191Splicing is an alternate oncogenic pathway activation mechanism in glioma.Nat Commun2022
35181971Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.Hum Mutat2022
35087180PhenoPad: Building AI enabled note-taking interfaces for patient encounters.NPJ Digit Med2022
35294539Assessment of Machine Learning-Based Medical Directives to Expedite Care in Pediatric Emergency Medicine.JAMA Netw Open2022
33397769A Cross-Sectional Study of Nemaline Myopathy.Neurology2021
36778585CanDIG: Federated network across Canada for multi-omic and health data discovery and analysis.Cell Genom2021
33592074Prospective observational study and serosurvey of SARS-CoV-2 infection in asymptomatic healthcare workers at a Canadian tertiary care center.PLoS One2021
35128509International federation of genomic medicine databases using GA4GH standards.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34820133A Canadian Study of Cisplatin Metabolomics and Nephrotoxicity (ACCENT): A Clinical Research Protocol.Can J Kidney Health Dis2021
34493718Automatically disambiguating medical acronyms with ontology-aware deep learning.Nat Commun2021
34667013Creation of an electronic patient-reported outcome measure platform Voxe: a mixed methods study protocol in paediatric solid organ transplantation.BMJ Open2021
34016710Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly.Neurology2021
33944895MetaFusion: a high-confidence metacaller for filtering and prioritizing RNA-seq gene fusion candidates.Bioinformatics2021
32366968Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.Genet Med2020
33644412Essential requirements for establishing and operating data trusts: practical guidance co-developed by representatives from fifteen canadian organizations and initiatives.Int J Popul Data Sci2020
32084423Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.Gastroenterology2020
32799817Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation.J Neurodev Disord2020
32623772EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.Hum Mutat2020
32341096Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse.J Neurosci2020
32555415Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.Genet Med2020
32479601CReSCENT: CanceR Single Cell ExpressioN Toolkit.Nucleic Acids Res2020
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
31875540Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1.Cell Rep2019
31639040Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.Clin Epigenetics2019
31409384DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.Clin Epigenetics2019
31288860New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.BMC Med Genomics2019
31125434Extract and component-specific sensitization patterns in Canadian moderate-to-severe preschool asthmatics.Allergy2019
31094361Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning.JMIR Med Inform2019
30827497Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.Am J Hum Genet2019
30821575Don't brush off buccal data heterogeneity.Epigenetics2019
31051109Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.Am J Hum Genet2019
28866570PhenoLines: Phenotype Comparison Visualizations for Disease Subtyping via Topic Models.IEEE Trans Vis Comput Graph2018
30069064Registered access: authorizing data access.Eur J Hum Genet2018
30136959Doccurate: A Curation-Based Approach for Clinical Text Visualization.IEEE Trans Vis Comput Graph2018
30451841Tamoxifen therapy in a murine model of myotubular myopathy.Nat Commun2018
29425702Harmonising phenomics information for a better interoperability in the rare disease field.Eur J Med Genet2018
27514055PhenoStacks: Cross-Sectional Cohort Phenotype Comparison Visualizations.IEEE Trans Vis Comput Graph2017
28475860CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.Am J Hum Genet2017
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Collaborators

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Children's Hospital of Eastern Ontario
Co-authored papers 13
The Hospital for Sick Children
Co-authored papers 13
William Harvey Research Institute, Queen Mary University of London
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Co-authored papers 12
Ontario Institute for Cancer Research
Co-authored papers 11
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American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
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The Hospital for Sick Children
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INSERM
Co-authored papers 7
INSERM
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The Broad Institute of MIT and Harvard
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McGill University
Co-authored papers 7
International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
Co-authored papers 7
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 6
Montreal Neurological Institute, McGill University
Co-authored papers 6
Perth Children's Hospital
Co-authored papers 6
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Broad Institute of Harvard and the Massachusetts Institute of Technology
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Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
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Wellcome Sanger Institute
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University of Leicester
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Institute for the Advanced Study of Human Biology (ASHBi), Kyoto University
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King Edward Memorial Hospital
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Johns Hopkins University School of Medicine
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