Area of research
Molecular Biology · Genetics
Research interest
Research interests include Biomedical Text Mining and Ontologies, Genomics and Rare Diseases, Cancer Genomics and Diagnostics, and Semantic Web and Ontologies.
Announcing the Biomedical Data Translator: Initial Public Release
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science
GA4GH: International policies and standards for data sharing across genomic research and healthcare
The Data Use Ontology to streamline responsible access to human biomedical datasets
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery
IRF2BPL Is Associated with Neurological Phenotypes
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
PDX-MI: Minimal Information for Patient-Derived Tumor Xenograft Models
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
The Ontology for Biomedical Investigations
The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
The Resource Identification Initiative: A cultural shift in publishing
The Resource Identification Initiative: A cultural shift in publishing
The Resource Identification Initiative: A Cultural Shift in Publishing
CLO: The cell line ontology