PU
Priyanka Upadhyai
Kasturba Medical College Manipal, University of Manchester, University of Pittsburgh, University of Calcutta
0000-0002-4319-7283
Employment
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Kasturba Medical College Manipal Assistant Professor2016 - Present
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University of Manchester Postdoctoral Research Associate2013 - 2016
Education
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University of Pittsburgh PhD2007 - 2013
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University of Calcutta Master of Science2004 - 2006
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University of Calcutta Bachelor of Science2001 - 2004
Projects & Funding
Projects & funding information is unavailable.
Publications (26)
- Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders Save
- The RNA exosome: mechanisms of RNA surveillance, regulation, and disease Save
- Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro Save
- Primary cilia in skeletal development and disease Save
- The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila Save
- Exome-Wide Association Study Reveals Host Genetic Variants Likely Associated with the Severity of COVID-19 in Patients of European Ancestry Save
- Genomic and Ancestral Variation Underlies the Severity of COVID-19 Clinical Manifestation in Individuals of European Descent Save
- Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. Save
- Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Save
- The story of the lost twins: decoding the genetic identities of the Kumhar and Kurcha populations from the Indian subcontinent. Save