Year : 2022
Landscape of Variability in Chemosensory Genes Associated With Dietary Preferences in Indian Population: Analysis of 1029 Indian Genomes
Cite this Research Publication : P. Prakrithi, Pankaj Jha, Jushta Jaiswal, Disha Sharma, Rahul C. Bhoyar, Abhinav Jain, Mohamed Imran, Vigneshwar Senthilvel, Mohit Kumar Divakar, Anushree Mishra, Jaspal Sabharwal, Vinod Scaria, Sridhar Sivasubbu, Mitali Mukerji, Landscape of variability in chemosensory genes associated with dietary preferences in Indian population: Analysis of 1029 Indian genomes, Front Genet, 2022 Jul 12;13:878134.
Year : 2021
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India
Cite this Research Publication : Pankaj Pathak, Mehar Chand Sharma, Pankaj Jha, Chitra Sarkar, Mohammed Faruq, Prerana Jha, Vaishali Suri, Rohit Bhatia, Sumit Singh, Sheffali Gulati, Mohammad Husain, Mutational spectrum of CAPN3 with genotype-phenotype correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) patients in India, J Neuromuscul Dis. 2021
Year : 2021
Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity
Cite this Research Publication : Samantha E. Day, Michael Traurig, Pankaj Kumar, Paolo Piaggi, Cigdem Koroglu, Sayuko Kobes, Robert L. Hanson, Clifton Bogardus, Leslie J. Baier, Functional Variants in Cytochrome B5 Type A (CYB5A) are Enriched in Southwest American Indians and Associate with Obesity, Obesity, 2021
Year : 2020
Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians
Cite this Research Publication : Paolo Piaggi, Çiğdem Köroğlu, Anup Nair, Jeff Sutherland, Yunhua Li Muller, Pankaj Kumar, Wen-Chi Hsueh, Sayuko Kobes, Alan Shuldiner, Hye In Kim, Nehal Gosalia, Christopher Van Hout, Marcus Jone, William Knowler, Jonathan Krakoff, Robert Hanson, Clifton Bogardus, Leslie J Baier, Exome sequencing identifies a nonsense variant in DAO associated with reduced energy expenditure in American Indians, J Clin Endocrinol Metab, 2020.
Year : 2019
Identification and functional validation of genetic variants in potential miRNA target sites of established BMI genes
Cite this Research Publication : Pankaj Kumar, Michael Traurig, and Leslie J. Baier, Identification and Functional Validation of Genetic Variants in Potential miRNA Target Sites of Established BMI Genes, Int J Obes (Lond). 2019. 44(5):1191-1195.
Year : 2016
Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND)
Cite this Research Publication : Williams RC, Elston RC, Kumar P, Knowler WC, Abboud HE, Adler S, Bowden DW, Divers J, Freedman B, Igo RP Jr, Ipp E, Iyengar SK, Kimmel PL, Klag MJ, Kohn O, Langefeld CD, Leehey DJ, Nelson RG, Nicholas SB, Pahl MV, Parekh RS, Rotter JI, Schelling JR, Sedor JR, Shah VO, Smith MW, Taylor KD, Thameem F, Thornley-Brown D, Winkler CA, Guo X, Zager P, Hanson RL, FIND Research Group. Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND), BMC Genomics, 2016
Year : 2015
Interferon-γ (IFNG) microsatellite repeat and single nucleotide polymorphism haplotypes of IFN-α receptor (IFNAR1) associated with enhanced malaria susceptibility in Indian populations
Cite this Research Publication : Kanchan K, Jha P, Pati SS, Mohanty S, Mishra SK, Sharma SK, Awasthi S, Venkatesh V, Habib S. Interferon-γ (IFNG) microsatellite repeat and single nucleotide polymorphism haplotypes of IFN-α receptor (IFNAR1) associated with enhanced malaria susceptibility in Indian populations, Infect Genet Evol, 2015
Year : 2015
Signature of positive selection of PTK6 gene in East Asian populations: a cross talk for Helicobacter pylori invasion and gastric cancer endemicity
Cite this Research Publication :
Pankaj Jha, Dongsheng Lu, Yuan Yuan, Shuhua Xu, Signature of positive selection of PTK6 gene in East Asian populations: a cross talk for Helicobacter pylori invasion and gastric cancer endemicity, Mol Genet Genomics, 2015
Year : 2015
Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data
Cite this Research Publication :
Pankaj Jha, Dongsheng Lu, Shuhua Xu, Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data, Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data, PLoS One, 2015
Year : 2014
Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins
Cite this Research Publication : Kaurani L, Vishal M, Kumar D, Sharma A, Mehani B, Sharma C, Chakraborty S, Jha P, Ray J, Sen A, Dash D, Ray K, Mukhopadhyay A, Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins, Invest Ophthalmol Vis Sci, 2014
Year : 2014
Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation
Cite this Research Publication : Narang A, Jha P, Kumar D, Kutum R, Mondal AK; Indian Genome Variation Consortium, Dash D, Mukerji M, Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation, Genome Biol Evol, 2014
Year : 2013
Comparative study of IDH1 mutations in gliomas by high resolution melting analysis, immunohistochemistry and direct DNA sequencing
Cite this Research Publication : Agarwal S, Sharma MC, Jha P, Pathak P, Suri V, Sarkar C, Chosdol K, Suri A, Kale SS, Mahapatra AK, Jha P. Comparative study of IDH1 mutations in gliomas by immunohistochemistry and DNA sequencing, Neuro Oncol, 2013
Year : 2012
Footprints of genetic susceptibility to pulmonary tuberculosis: cytokine gene variants in north Indians
Cite this Research Publication : Abhimanyu, Bose M, Jha P, Indian Genome Variation Consortium. Footprints of genetic susceptibility to pulmonary tuberculosis: Cytokine gene variants in north Indians, Indian J Med Res., 2012
Year : 2012
Deletion of the APOBEC3B gene strongly impacts susceptibility to falciparum malaria
Cite this Research Publication : Jha P, Swapnil Sinha, Kanika Kanchan, Tabish Qidwai, Ankita Narang, Prashant Kumar Singh, Sudhanshu S. Pati, Sanjib Mohanty, Saroj K. Mishra, Surya K. Sharma, Shally Awasthi, Vimala Venkatesh, Sanjeev Jain, Analabha Basu, Shuhua Xu, Indian Genome Variation Consortium, Mitali Mukerji, Saman Habib, Deletion of the APOBEC3B gene strongly impacts susceptibility to falciparum malaria, Infect Genet Evol. 2012.
Year : 2011
TP53 polymorphisms in gliomas from Indian patients: Study of codon 72 genotype, rs1642785, rs1800370 and 16 base pair insertion in intron-3
Cite this Research Publication : Jha P, Pathak P, Chosdol K, Suri V, Sharma MC, Kumar G, Singh M, Mahapatra AK, Sarkar C, TP53 polymorphisms in gliomas from Indian patients: Study of codon 72 genotype, rs1642785, rs1800370 and 16 base pair insertion in intron-3, Exp Mol Pathol, 2011
Year : 2011
Differential serum cytokine levels are associated with cytokine gene polymorphisms in north Indians with active pulmonary tuberculosis
Cite this Research Publication : Abhimanyu, Mangangcha IR, Jha P, Arora K, Mukerji M, Banavaliker JN, Consortium IG, Brahmachari V, Bose M,Differential serum cytokine levels are associated with cytokine gene polymorphisms in North Indians with active pulmonary tuberculosis, Infect Genet Evol, 2011
Year : 2011
Genetic association study suggests a role for SP110 variants in lymph node tuberculosis but not pulmonary tuberculosis in north Indians
Cite this Research Publication : Abhimanyu, Jha P, Jain A, Arora K, Bose M, Genetic association study suggests a role for SP110 variants in lymph node tuberculosis but not pulmonary tuberculosis in north Indians,Hum Immunol, 2011
Year : 2011
IDH1 mutations in gliomas: first series from a tertiary care centre in India with comprehensive review of literature
Cite this Research Publication : Jha P, Suri V, Sharma V, Singh G, Sharma MC, Pathak P, Chosdol K, Jha P, Suri A, Mahapatra AK, Kale SS, Sarkar C, IDH1 mutations in gliomas: First series from a tertiary care centre in India with comprehensive review of literature, Exp Mol Pathol, 2011
Year : 2011
Recent admixture in an Indian population of African ancestry
Cite this Research Publication : Ankita Narang, Jha P, Vimal Rawat, Arijit Mukhopadhayay, Debasis Dash, Analabha Basu, Mitali Mukerji, Recent admixture in an Indian population of African ancestry, Am. J. Hum. Genet, 2011
Year : 2011
Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity
Cite this Research Publication : Gautam P, Jha P, Kumar D, Tyagi S, Varma B, Dash D, Mukhopadhyay A, Indian Genome Variation Consortium, Mukerji M. Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity, Hum Genet, 2011
Year : 2011
A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum
Cite this Research Publication : Lall M, Thakur S, Puri R, Verma I, Mukerji M, Jha P, A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum, Mol Cytogenet, 2011
Year : 2011
A genome-wide search for non-UGT1A1 markers associated with unconjugated bilirubin level reveals significant association with a polymorphic marker near a gene of the nucleoporin family
Cite this Research Publication : Shalini Datta, Abhijit Chowdhury, Malay Ghosh, Kaushik Das, Jha P, Roshan Colah, Mitali Mukerji, Partha P. Majumder, A genome-wide search for non-UGT1A1 markers associated with unconjugated bilirubin level reveals significant association with a polymorphic marker near a gene of the nucleoporin family, Annals of Human Genetics, 2011
Year : 2010
EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda
Cite this Research Publication : Aggarwal S, Negi S, Jha P, Singh PK, Stobdan T, Pasha MA, Ghosh S, Agrawal A; Indian Genome Variation Consortium, Prasher B, Mukerji M, EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda, Proc Natl Acad Sci U S A, 2010
Year : 2010
O6-methylguanine DNA methyltransferase gene promoter methylation status in gliomas and its correlation with other molecular alterations: first Indian report with review of challenges for use in customized treatment
Cite this Research Publication : Jha P, Suri V, Jain A, Sharma MC, Pathak P, Jha P, Srivastava A, Suri A, Gupta D, Chosdol K, Chattopadhyay P, Sarkar C, O6-methylguanine DNA methyltransferase gene promoter methylation status in gliomas and its correlation with other molecular alterations: first Indian report with review of challenges for use in customized treatment. Neurosurgery, 2010
Year : 2009
Mapping human genetic diversity in Asia
Cite this Research Publication : HUGO Pan-Asian SNP Consortium; Mahmood Ameen Abdulla, Ikhlak Ahmed, Anunchai Assawamakin, Jong Bhak,Pankaj Kumar Jha, Mapping human genetic diversity in Asia, Science,2009
Year : 2008
Genetic landscape of the people of India: a canvas for disease gene exploration
Cite this Research Publication :
Pankaj Kumar Jha, Indian Genome Variation Consortium. Genetic landscape of the people of India: a canvas for disease gene exploration, J Genet, 2008