• 55 Citations
  • 3 h-Index
20132020

Research output per year

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Research Output

  • 55 Citations
  • 3 h-Index
  • 13 Article
  • 1 Comment/debate
2020
Open Access

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

Somashekar, P. H., Upadhyai, P., Shula, A. & Girisha, K. M., 01-03-2020, In : Gene. 144229.

Research output: Contribution to journalArticle

Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome

Somashekar, P. H., Upadhyai, P., Narayanan, D. L., Kamath, N., Bajaj, S., Girisha, K. M. & Shukla, A., 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature

Upadhyai, P., Amiri, E. F., Guleria, V. S., Bielas, S. L., Girisha, K. M. & Shukla, A., 01-07-2020, In : Clinical Dysmorphology. 29, 3, p. 127-131 5 p.

Research output: Contribution to journalArticle

2019
1 Citation (Scopus)

Investigating the West Eurasian ancestry of Pakistani Hazaras

Das, R. & Upadhyai, P., 01-06-2019, In : Journal of Genetics. 98, 2, 43.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India

Uttarilli, A., Shah, H., Bhavani, G. S. L., Upadhyai, P., Shukla, A. & Girisha, K. M., 01-03-2019, In : Bone. 120, p. 204-211 8 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2018

An ancestry informative marker set which recapitulates the known fine structure of populations in South Asia

Das, R. & Upadhyai, P., 01-01-2018, In : Genome Biology and Evolution. 10, 9, p. 2408-2416 9 p.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)
2017
4 Citations (Scopus)

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

Shukla, A., Upadhyai, P., Shah, J., Neethukrishna, K., Bielas, S. & Girisha, K. M., 01-02-2017, In : European Journal of Medical Genetics. 60, 2, p. 118-123 6 p.

Research output: Contribution to journalArticle

17 Citations (Scopus)

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Shukla, A., Hebbar, M., Srivastava, A., Kadavigere, R., Upadhyai, P., Kanthi, A., Brandau, O., Bielas, S. & Girisha, K. M., 01-07-2017, In : Journal of Human Genetics. 62, 7, p. 723-727 5 p.

Research output: Contribution to journalArticle

23 Citations (Scopus)

Unraveling the Population History of Indian Siddis

Das, R. & Upadhyai, P., 01-06-2017, In : Genome Biology and Evolution. 9, 6, p. 1385-1392 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2013

Brinker possesses multiple mechanisms for repression because its primary co-repressor, Groucho, may be unavailable in some cell types

Upadhyai, P. & Campbell, G., 15-10-2013, In : Development (Cambridge). 140, 20, p. 4256-4265 10 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)