| Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome A Shukla, M Hebbar, A Srivastava, R Kadavigere, P Upadhyai, A Kanthi, ... Journal of human genetics 62 (7), 723-727, 2017 | 67 | 2017 |
| Modulation of the promoter activation rate dictates the transcriptional response to graded BMP signaling levels in the Drosophila embryo C Hoppe, JR Bowles, TG Minchington, C Sutcliffe, P Upadhyai, M Rattray, ... Developmental cell 54 (6), 727-741. e7, 2020 | 53 | 2020 |
| Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature A Shukla, P Upadhyai, J Shah, K Neethukrishna, S Bielas, KM Girisha European journal of medical genetics 60 (2), 118-123, 2017 | 32 | 2017 |
| Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India A Uttarilli, H Shah, GSL Bhavani, P Upadhyai, A Shukla, KM Girisha Bone 120, 204-211, 2019 | 21 | 2019 |
| Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia PH Somashekar, P Kaur, J Stephen, VS Guleria, R Kadavigere, ... Clinical genetics 99 (4), 594-600, 2021 | 15 | 2021 |
| Phenotypic diversity and genetic complexity of PAX3‐related Waardenburg syndrome PH Somashekar, P Upadhyai, DL Narayanan, N Kamath, S Bajaj, ... American Journal of Medical Genetics Part A 182 (12), 2951-2958, 2020 | 14 | 2020 |
| Characterization of primary cilia features reveal cell-type specific variability in in vitro models of osteogenic and chondrogenic differentiation P Upadhyai, VS Guleria, P Udupa PeerJ 8, e9799, 2020 | 10 | 2020 |
| Application of geographic population structure (GPS) algorithm for biogeographical analyses of populations with complex ancestries: a case study of South Asians from 1000 … R Das, P Upadhyai BMC genetics 18, 21-31, 2017 | 10 | 2017 |
| Genomic and ancestral variation underlies the severity of COVID-19 clinical manifestation in individuals of European descent P Upadhyai, G Suresh, R Parit, R Das Life 11 (9), 921, 2021 | 7 | 2021 |
| The story of the lost twins: decoding the genetic identities of the Kumhar and Kurcha populations from the Indian subcontinent R Das, VA Ivanisenko, AA Anashkina, P Upadhyai BMC genetics 21, 1-11, 2020 | 7 | 2020 |
| Recurrent 1q21. 1 deletion syndrome: report on variable expression, nonpenetrance and review of literature P Upadhyai, EF Amiri, VS Guleria, SL Bielas, KM Girisha, A Shukla Clinical dysmorphology 29 (3), 127-131, 2020 | 7 | 2020 |
| Brinker possesses multiple mechanisms for repression because its primary co-repressor, Groucho, may be unavailable in some cell types P Upadhyai, G Campbell Development 140 (20), 4256-4265, 2013 | 7 | 2013 |
| Investigating the west Eurasian ancestry of Pakistani Hazaras R Das, P Upadhyai Journal of genetics 98 (2), 43, 2019 | 6 | 2019 |
| An ancestry informative marker set which recapitulates the known fine structure of populations in South Asia R Das, P Upadhyai Genome Biology and Evolution 10 (9), 2408-2416, 2018 | 6 | 2018 |
| Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity … PO Simsek‐Kiper, P Jacob, P Upadhyai, ZE Taşkıran, VS Guleria, ... Human Mutation 43 (12), 2116-2129, 2022 | 5 | 2022 |
| Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A P Upadhyai, P Radhakrishnan, VS Guleria, N Kausthubham, SS Nayak, ... Human Mutation 42 (8), 1005-1014, 2021 | 5 | 2021 |
| Exome-wide association study reveals host genetic variants likely associated with the severity of COVID-19 in patients of European ancestry P Upadhyai, PU Shenoy, B Banjan, MF Albeshr, S Mahboob, I Manzoor, ... Life 12 (9), 1300, 2022 | 4 | 2022 |
| Unraveling the population history of Indian Siddis R Das, P Upadhyai Genome Biology and Evolution 9 (6), 1385-1392, 2017 | 4 | 2017 |
| The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory … VS Guleria, R Parit, N Quadri, R Das, P Upadhyai Experimental Cell Research 418 (2), 113273, 2022 | 3 | 2022 |
| Novel splice site and nonsense variants in INVS cause infantile nephronophthisis PH Somashekar, P Upadhyai, A Shukla, KM Girisha Gene 729, 144229, 2020 | 3 | 2020 |
