Purvi Majethia

Employment

• Kasturba Medical College Manipal PhD Scholar
  2020 - Present

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (4)

• De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
  European Journal of Human Genetics 2024 DOI: 10.1038/s41431-023-01513-7
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• Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications
  Clinical Genetics 2024 DOI: 10.1111/cge.14495
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• Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90
  European Journal of Medical Genetics 2022 DOI: 10.1016/j.ejmg.2021.104403
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• Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
  Clinical genetics 2021 DOI: 10.1111/cge.13970
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