Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Phylogenetic Studies, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, and Cancer Genomics and Diagnostics.
The promises and challenges of clinical AI in community paediatric medicine
GA4GH: International policies and standards for data sharing across genomic research and healthcare
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
From Clinic to Computer and Back Again: Practical Considerations When Designing and Implementing Machine Learning Solutions for Pediatrics
Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas
DNA methylation signature is prognostic of choroid plexus tumor aggressiveness
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Registered access: authorizing data access
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Size and Texture-Based Classification of Lung Tumors with 3D CNNs
The Human Phenotype Ontology in 2017
Abstract 2789: Investigating the role of DNA methylation in pediatric choroid plexus tumors
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Similarity network fusion for aggregating data types on a genomic scale
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations
FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data