AS
0000-0003-0699-3704 Employment
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Sanjay Gandhi Post Graduate Institute of Medical Sciences
Education
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Publications (13)
- Generation of a hiPSC from a patient with an ITSN1-associated neurodevelopmental disorder spectrum carrying biallelic c.2893_2894insA (p.Tyr965Ter) genetic variant Save
- Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. Save
- TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Save
- In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population. Save
- A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia Save
- In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population. Save
- Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal-derived interferon kappa. Save
- Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. Save
- Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Save
- Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. Save