Area of research
Genetics · Cell Biology
Research interest
Research interests include Biology, Medicine, Missense mutation, Mutation, Computational biology, and Disease.
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
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations
<i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia