0000-0003-0851-8376 Employment
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Publications (10)
- Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening: Findings from the BabySeq Project Save
- The diagnostic utility of exome‐based carrier screening in families with a positive family history Save
- Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family Save
- Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization Save
- Validity of claims‐based algorithms to identify neurodevelopmental disorders in children Save
- An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation Save
- Gain‐of‐function pathogenic variants inSMAD4are associated with neoplasia in Myhre syndrome Save
- Single-day HER2neu amplification assessment using chip-based digital PCR in formalin-fixed paraffin-embedded breast carcinoma tissue Save
- Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients Save
- Mutation analysis of beta-thalassemia in East-Western Indian population: a recent molecular approach Save