0000-0002-8447-6721 Employment
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Baylor College of Medicine Postdoctoral associate2022 - Present
Education
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Kasturba Medical College PhD2017 - 2022
Projects & Funding
Projects & funding information is unavailable.
Publications (19)
- Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination. Save
- C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures. Save
- Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. Save
- Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy. Save
- Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene. Save
- Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Save
- Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling. Save
- Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Save
- Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Save
- Genetic disorders with central nervous system white matter abnormalities: An update. Save