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PUBLICATIONS

  1. Guleria, V. S., Parit, R., Quadri, N., Das, R. & Upadhyai, P. 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. Exp Cell Res 418, 113273 (2022). https://doi.org:10.1016/j.yexcr.2022.113273

  2. Upadhyai, P., Suresh, G., Parit, R. & Das, R. Genomic and Ancestral Variation Underlies the Severity of COVID-19 Clinical Manifestation in Individuals of European Descent. Life (Basel) 11 (2021). https://doi.org:10.3390/life11090921

  3. Upadhyai, P. et al. Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. Hum Mutat 42, 1005-1014 (2021). https://doi.org:10.1002/humu.24235

  4. Somashekar, P. H. et al. Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clin Genet 99, 594-600 (2021). https://doi.org:10.1111/cge.13928

  5. Upadhyai, P., Guleria, V. S. & Udupa, P. Characterization of primary cilia features reveal cell-type specific variability in in vitro models of osteogenic and chondrogenic differentiation. PeerJ 8, e9799 (2020). https://doi.org:10.7717/peerj.9799

  6. Upadhyai, P. et al. Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature. Clin Dysmorphol 29, 127-131 (2020). https://doi.org:10.1097/MCD.0000000000000327

  7. Somashekar, P. H. et al. Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome. Am J Med Genet A 182, 2951-2958 (2020). https://doi.org:10.1002/ajmg.a.61893

  8. Hoppe, C. et al. Modulation of the Promoter Activation Rate Dictates the Transcriptional Response to Graded BMP Signaling Levels in the Drosophila Embryo. Dev Cell 54, 727-741 e727 (2020). https://doi.org:10.1016/j.devcel.2020.07.007

  9. Somashekar, P. H. et al. Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome. Am J Med Genet A 182, 2951-2958 (2020). https://doi.org:10.1002/ajmg.a.61893

  10. Das, R., Ivanisenko, V. A., Anashkina, A. A. & Upadhyai, P. The story of the lost twins: decoding the genetic identities of the Kumhar and Kurcha populations from the Indian subcontinent. BMC Genet 21, 117 (2020). https://doi.org:10.1186/s12863-020-00919-2

  11. Uttarilli, A. et al. Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. Bone 120, 204-211 (2019). https://doi.org:10.1016/j.bone.2018.10.026

  12. Das, R. & Upadhyai, P. Investigating the West Eurasian ancestry of Pakistani Hazaras. Journal of Genetics 98 (2019). https://doi.org:https://doi.org/10.1007/s12041-019-1093-2

  13. Das, R. & Upadhyai, P. Application of the geographic population structure (GPS) algorithm for biogeographical analyses of wild and captive gorillas. BMC Bioinformatics 20, 35 (2019). https://doi.org:10.1186/s12859-018-2568-5

  14. Das, R. & Upadhyai, P. An Ancestry Informative Marker Set Which Recapitulates the Known Fine Structure of Populations in South Asia. Genome Biol Evol 10, 2408-2416 (2018). https://doi.org:10.1093/gbe/evy182

  15. Das, R. & Upadhyai, P. Application of geographic population structure (GPS) algorithm for biogeographical analyses of populations with complex ancestries: a case study of South Asians from 1000 genomes project. BMC Genet 18, 109 (2017). https://doi.org:10.1186/s12863-017-0579-2

  16. Das, R. & Upadhyai, P. Unraveling the Population History of Indian Siddis. Genome Biol Evol 9, 1385-1392 (2017). https://doi.org:10.1093/gbe/evx095

  17. Shukla, A. et al. Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. Eur J Med Genet 60, 118-123 (2017). https://doi.org:10.1016/j.ejmg.2016.11.006

  18. Shukla, A. et al. Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. J Hum Genet 62, 723-727 (2017). https://doi.org:10.1038/jhg.2017.35​

  19. Upadhyai, P. & Campbell, G. Brinker possesses multiple mechanisms for repression because its primary co-repressor, Groucho, may be unavailable in some cell types. Development 140, 4256-4265 (2013). https://doi.org:10.1242/dev.099366