Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Biomedical Text Mining and Ontologies, Bioinformatics and Genomic Networks, and Connective tissue disorders research.
Rare disease gene association discovery in the 100,000 GenomesProject
Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
Mondo: integrating disease terminology across communities
The Unified Phenotype Ontology : a framework for cross-species integrative phenomics
Alternative splicing is coupled to gene expression in a subset of variably expressed genes
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics
Predictive models of long COVID
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes
The GA4GH Phenopacket schema defines a computable representation of clinical data
FABIAN-variant: predicting the effects of DNA variants on transcription factor binding
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study
GA4GH Phenopackets: A Practical Introduction
Deep phenotyping: symptom annotation made simple with SAMS
Characterizing Long COVID: Deep Phenotype of a Complex Condition
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
CalScope: Monitoring SARS-CoV-2 Seroprevalence from Vaccination and Prior Infection in Adults and Children in California May 2021– July 2021
The Human Phenotype Ontology in 2021
The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment
Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
The case for open science: rare diseases
How many rare diseases are there?
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery
Collaborative Research: AF: Medium: The Communication Cost of Distributed Computation
Collections Improvement for Paleobiology at the University of Colorado Museum
Major Lithotectonic Boundaries and Acadian Versus Late Paleozoic Deformation and Metamorphism, Central Massachusetts
Early Thrust Nappes and Late Metamorphic Shear Zones in Acadian Tectonic Development and Metamorphism, Central Massachusetts and Adjacent New Hampshire and Connecticut
Major Structural Features and Regional Metamorphism in the Tectonic Development of Central Massachusetts and South- western New Hampshire
Major Structural Features and Regional Metamorphism in the Tectonic Development of Central Massachusetts and South- Western New Hampshire
Geochemistry and Petrology of Metamorphosed Volcanic and Plutonic Rocks of the Bronson Hill Anticlinorium and Merrimack Synclinorium, Central Massachusetts
Stratigraphy, Structure, and Metamorphic Petrology of Pre- Devonian Rocks in Central Massachusetts
Geochemistry and Petrology of Metamorphosed Volcanic and Plutonic Rocks of the Bronson Hill Anticlinorium and Merrimack Synclinorium, Central Massachusetts
Detailed Phase Chemistry in Progressive Metamorphism of Pelitic Schists, West-Central Massachusetts
Doctoral Dissertation Research: Precipitation Efficiency InThe Conterminous United States East of the Rocky Mountains
Stratigraphy and Structure of Nappes and Gneiss Domes of TheBronson Hill Anticlinorium and Merrimack Synclinorium, West-Central Massachusetts