Annapurna Poduri
Boston Children's Hospital(US)National Institutes of Health(US)Royal Children's Hospital(AU)Harvard University(US)The University of Melbourne(AU)National Institute of Neurological Disorders and Stroke(US)Murdoch Children's Research Institute(AU)Boston Children's Museum(US)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Neuroscience and Neuropharmacology Research, Epilepsy research and treatment, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3(2024)14 cited
- → Sequence variants in HECTD1 result in a variable neurodevelopmental disorder(2025)4 cited
- → Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes(2025)1 cited
- → Cerebral Palsy Phenotypes in Genetic Epilepsies(2024)1 cited
- → Assessing Precision Antisense Oligonucleotide Therapy Eligibility for Infantile Genetic Epilepsies(2025)
- → Frontal Lobe Epilepsy: Bermuda's Triangle(2024)
- → 178 Increasing diagnostic yield from short-read WGS data(2025)