Research
Papers, abstracts, talks, and funded projects, each linked to its source. For citation counts and anything I’ve missed, see Google Scholar and ORCID.
Papers
- An agentic approach to phenotype mapping from rare disease surveys Senior author; *co-first authors. I led the R&D program behind it. Best Paper Award, ML4H 2025.
- Health equity innovation in precision medicine: data stewardship and agency to expand representation in clinicogenomics A case for patient-centered, privacy-preserving data stewardship.
- Centers for Mendelian Genomics: a decade of facilitating gene discovery Consortium author, as a member of the Centers for Mendelian Genomics Consortium.
- AHDC1 missense mutations in Xia-Gibbs syndrome Five of the ten individuals came through the Xia-Gibbs syndrome registry.
- Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation First and co-corresponding author.
- Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome
- RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
- Phenotypic expansion in KIF1A-related dominant disorders: a description of novel variants and review of published cases *Co-first author; co-corresponding.
- A genocentric approach to discovery of Mendelian disorders First author. 154 candidate disease genes from exome data on 18,696 people.
- Phenotypic expansion in DDX3X: a common cause of intellectual disability in females
- Whole genome comparison of a large collection of mycobacteriophages reveals a continuum of phage genetic diversity Consortium author, through the SEA-PHAGES undergraduate research program.
Selected conference abstracts
- Advancing computable operational definitions with ontology mapping and synthetic data simulation for more consistent real-world evidence
- An agentic AI tool for automated data transformation from TOPMed to LinkML and Phenopackets
- An AI-co-scientist framework for reproducible discovery in rare disease registries
- Automating HPO term extraction from clinical text using an LLM pipeline with UMLS Model Context Protocol (MCP) integration
- Enabling privacy-preserving clinical decision support for pharmacogenomics from whole genome sequencing
- Low-cost, interoperable rare disease registries via an enhanced GenomeConnect survey
- Damaging variants in HNRNPUL2 result in a novel HNRNP-related neurodevelopmental disorder
- Understanding the autism phenotype among individuals with HNRNP-related neurodevelopmental disorders
- HNRNP-related neurodevelopmental disorders: expanding knowledge of known conditions and prompting novel studies into candidate genes
- Using whole genome sequencing to call star alleles expands coverage and sensitivity for clinical pharmacogenomics decision-making
- Characterization of hearing loss and skin cancer in individuals with Rothmund-Thomson syndrome
- Haploinsufficiency versus gain of function in AHDC1 and the Xia-Gibbs syndrome
- Establishing a comprehensive registry and natural history study for Pol II-associated developmental disorders
- HNRNP-related neurodevelopmental disorders: expanding knowledge of known conditions and prompting novel studies into candidate genes
- Advancing insights in Xia-Gibbs syndrome: a universal registry platform for phenotypic analysis and longitudinal patient engagement
- A private, universal registry for patient engagement in biomedical research: Xia-Gibbs syndrome as a model
- A genocentric, optimization-based approach to discovery of Mendelian disease genes
- A Hadoop data lake enables genocentric mining of genetic variation associated with Mendelian disease
Talks and panels
- “Updates to the XGS Registry”
- “Precision Medicine in MedTech: Shaping the Future of Personalised Care”
- “How Can We Improve Data Infrastructure?”
- The Xia-Gibbs syndrome registry and Geneial’s platform
- “Industry Insights: Early-Stage Companies and Venture Capital in the Biotech Sector”
- Health equity innovation in precision medicine
- Patient registry information session, with Richard Gibbs and Jianhong Hu
- “Start-ups: Where to Start?”
- Rare-disease gene discovery
NIH-funded projects
- Increasing the Value of Genomic Medicine through Private Pharmacogenomic Reporting A pharmacogenomics reporting platform where patients keep ownership and control of their data, with encrypted queries so standardized results can reach the point of care.
- Privacy-Preserving Connectivity for Rare-Disease Patients A privacy-preserving registry and community platform for rare-disease patients, advocates, researchers, and therapy developers, built on FAIR data principles and starting with the Xia-Gibbs syndrome registry. The first award NHGRI made under NIH’s Small Business Transition Grant for Early-Career Scientists.