Area of research
Genetics · Infectious Diseases
Research interest
Research focused on Genetics and Precision medicine, with related work in Disease, Phenotype, Neurodevelopmental disorder. Notable publications include 'Metformin Use Is Associated With Reduced Mortality in a Diverse Population With COVID-19 and Diabetes', 'The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren', and 'Bi-allelic variants in INTS11 are associated with a complex neurological disorder'.
Announcing the Biomedical Data Translator: Initial Public Release
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Data-driven Cluster Analysis Reveals Increased Risk for Severe Insulin-deficient Diabetes in Black/African Americans
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Circulating SARS-CoV-2+ megakaryocytes are associated with severe viral infection in COVID-19
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
A Primer in Precision Nephrology: Optimizing Outcomes in Kidney Health and Disease through Data-Driven Medicine
The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren
Why rare disease needs precision medicine—and precision medicine needs rare disease
The microRNA processor<i>DROSHA</i>is a candidate gene for a severe progressive neurological disorder
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Metformin Use Is Associated With Reduced Mortality in a Diverse Population With COVID-19 and Diabetes
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11