Indian Genome Variation Consortium
  • Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians Mutation in brief. Mahajan A, Chavali S, Ghosh S, Kabra M, Chowdhury MR, Indian Genome Variation Consortium, Bharadwaj D. Hum Mutat. (2007) 28(5): 526
  • Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. Gupta A, Maulik M, Nasipuri P, Chattopadhyay I, Das SK, Gangopadhyay PK, Indian Genome Variation Consortium, Ray K. Clin Chem. (2007) 53(9): 1601-8
  • Parkin polymorphisms: risk for Parkinson’s disease in Indian population. Biswas A, Maulik M, Das SK, Indian Genome Variation Consortium, Ray K, Ray J. Clin Genet. (2007) 72(5): 484-6
  • Evaluation of genetic markers linked to hemophilia A locus: an Indian experience. Saha A, Mukherjee S, Maulik M, Chandak GR, Indian Genome Variation Consortium, Ray K. Haematologica (2007) 92 (12): 1725-6
  • Polymorphisms of TNF-enhancer and gene for FcgammaRIIa correlate with the severity of falciparum malaria in the ethnically diverse Indian population. Sinha S, Mishra SK, Sharma S, Patibandla PK, Mallick PK, Sharma SK, Mohanty S, Pati SS, Mishra SK, Ramteke BK, Bhatt R, Joshi H, Dash AP, Ahuja RC, Awasthi S, Indian Genome Variation Consortium, Venkatesh V, Habib S. Malar J. (2008) 7:13
  • Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Bhattacharjee A, Banerjee D, Mookherjee S, Acharya M, Banerjee A, Ray A, Sen A, Indian Genome Variation Consortium, Ray K. Mol Vis. (2008) 14: 841-50
  • Variations in host genes encoding adhesion molecules and susceptibility to falciparum malaria in India. Sinha S, Qidwai T, Kanchan K, Anand P, Jha GN, Pati SS, Mohanty S, Mishra SK, Tyagi PK, Sharma SK, Indian Genome Variation Consortium, Venkatesh V, Habib S. Malar J. (2008) 7: 250
  • Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study. Bahl S, Ahmed I, Indian Genome Variation Consortium, Mukerji M. J Genet. (2009) 88(1): 55-60
  • Genetic differentiation of populations residing in areas of high malaria endemicity in India. Sinha S, Arya V, Agarwal S, Indian Genome Variation Consortium, Habib S. J Genet. (2009) 88 (1): 77-80
  • Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia. Kumar J, Garg G, Kumar A, Sundaramoorthy E, Sanapala KR, Ghosh S, Karthikeyan G, Ramakrishnan L, Indian Genome Variation Consortium, Sengupta S. Circ Cardiovasc Genet. (2009) 2(6): 599-606
  • Evaluation of PINK1 variants in Indian Parkinson’s disease patients. Biswas A, Sadhukhan T, Majumder S, Misra AK, Das SK, Indian Genome Variation Consortium IG, Ray K, Ray J. Parkinsonism Relat Disord. (2010) 16(3): 167-71
  • Analysis of single nucleotide polymorphisms of PRNP gene in twenty-four ethnic groups of India. Sengupta M, Chakraborty A, Indian Genome Variation Consortium, Ray K. J Genet. (2010) 89(2): 247-51
  • IGVBrowser–a genomic variation resource from diverse Indian populations. Narang A, Roy RD, Chaurasia A, Mukhopadhyay A, Mukerji M, Indian Genome Variation Consortium, Dash D. Database (Oxford). (2010): 2010:baq022
  • EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda. Aggarwal S, Negi S, Jha P, Singh PK, Stobdan T, Pasha MA, Ghosh S, Agrawal A, Indian Genome Variation Consortium, Prasher B, Mukerji M. Proc Natl Acad Sci USA (2010) 107(44): 18961-6
  • Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. Chaki M, Sengupta M, Mondal M, Bhattacharya A, Mallick S, Bhadra R, Indian Genome Variation Consortium, Ray K. J Invest Dermatol. (2011) 131(1): 260-2
  • A set of five microsatellite markers linked to F8 gene can detect haemophilia A carriers across India. Saha A, Nayak S, Mani KR, Chandak GR, Indian Genome Variation Consortium, Ray K, Mukhopadhyay A. Haemophilia (2011) 17(5): e928-935
  • Differential serum cytokine levels are associated with cytokine gene polymorphisms in north Indians with active pulmonary tuberculosis. Abhimanyu, Mangangcha IR, Jha P, Arora K, Mukerji M, Banavaliker JN, Indian Genome Variation Consortium, Brahmachari V, Bose M. Infect Genet Evol. (2011) 11(5): 1015-22
  • Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity. Gautam P, Jha P, Kumar D, Tyagi S, Varma B, Dash D, Mukhopadhyay A, Indian Genome Variation Consortium, Mukerji M. Hum Genet. (2011) 131(1): 131-143
  • Recent admixture in an Indian population of african ancestry. Narang A, Jha P, Rawat V, Mukhopadhayay A, Dash D, Indian Genome Variation Consortium, Basu A, Mukerji M. Am J Hum Genet. (2011) 89(1): 111-20
  • HLA Alleles and Amino-Acid Signatures of the Peptide-Binding Pockets of HLA Molecules in Vitiligo. Singh A, Sharma P, Kar HK, Sharma VK, Tembhre MK, Gupta S, Laddha NC, Dwivedi M, Begum R, Indian Genome Variation Consortium, Gokhale RS, Rani R. J Invest Dermatol. (2011)132(1): 124-134
  • Diverse facets of COMT: from a plausible predictive marker to a potential drug target for schizophrenia. Gupta M, Kaur H, Jajodia A, Jain S, Satyamoorthy K, Mukerji M, Thirthalli J; Indian Genome Variation Consortium, Kukreti R. Curr Mol Med. (2011) 11(9):732-43.
  • Deletion of the APOBEC3B gene strongly impacts susceptibility to falciparum malaria. Jha P, Sinha S, Kanchan K, Qidwai T, Narang A, Singh PK, Pati SS, Mohanty S, Mishra SK, Sharma SK, Awasthi S, Venkatesh V, Jain S, Basu A, Xu S; Indian Genome Variation Consortium, Mukerji M, Habib S. Infect Genet Evol. (2012) 12(1):142-8.
  • Identification of close relatives in the HUGO Pan-Asian SNP database. Yang X, Xu S; HUGO Pan-Asian SNP Consortium; Indian Genome Variation Consortium. PLoS One. (2011) 6(12):e29502
  • Presence of strong association of the major histocompatibility complex (MHC) class I allele HLA-A*26:01 with idiopathic hypoparathyroidism. Goswami R, Singh A, Gupta N; Indian Genome Variation Consortium, Rani R. J Clin Endocrinol Metab. (2012) 97(9):E1820-4
  • Footprints of genetic susceptibility to pulmonary tuberculosis: cytokine gene variants in north Indians. Abhimanyu, Bose M, Jha P; Indian Genome Variation Consortium. Indian J Med Res. (2012) 135(5):763-70