Hegde, Madhuri R.

Top Publications

Top Publications Authored or Co-Authored by "Hegde, Madhuri R."

• Mutations in FKBp10, which result in bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

  Human Molecular Genetics, Volume 22, No. 1, Article dds371, Year 2013, Citations 123
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 24
• Salivastat: Direct-pcr and pooling of saliva samples collected in healthcare and community setting for sars-cov-2 mass surveillance

  Diagnostics, Volume 11, No. 5, Article 904, Year 2021, Citations 20
• Clinical Validation of a Sensitive Test for Saliva Collected in Healthcare and Community Settings with Pooling Utility for Severe Acute Respiratory Syndrome Coronavirus 2 Mass Surveillance

  Journal of Molecular Diagnostics, Volume 23, No. 7, Year 2021, Citations 15
• Clinical validation of a multiplex PCR-based detection assay using saliva or nasopharyngeal samples for SARS-Cov-2, influenza A and B

  Scientific Reports, Volume 12, No. 1, Article 3480, Year 2022, Citations 15