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Priyanka Upadhyai
Priyanka Upadhyai
Assistant Professor of Medical Genetics, Kasturba Medical College, Manipal University
Verified email at manipal.edu
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Cited by
Cited by
Year
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
672017
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
532020
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
322017
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
202019
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
152021
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
142020
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
102020
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
102017
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
72020
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
72013
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
62021
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
62020
Investigating the west Eurasian ancestry of Pakistani Hazaras
R Das, P Upadhyai
Journal of genetics 98 (2), 43, 2019
62019
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
52022
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
52021
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
52018
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
42022
Unraveling the population history of Indian Siddis
R Das, P Upadhyai
Genome Biology and Evolution 9 (6), 1385-1392, 2017
42017
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
32022
Novel splice site and nonsense variants in INVS cause infantile nephronophthisis
PH Somashekar, P Upadhyai, A Shukla, KM Girisha
Gene 729, 144229, 2020
32020
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