My Bibliography

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Kadagandla S, Kapoor A. Identification of candidate causal cis-regulatory variants underlying electrocardiographic QT interval GWAS loci. [preprint]. 2024 March. Available from: https://doi.org/10.1101/2024.03.13.584880. doi: 10.1101/2024.03.13.584880.

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Gunamalai L, Singh P, Berg B, Shi L, Sanchez E, Smith A, Breton G, Bedford MT, Balciunas D, Kapoor A. Functional characterization of QT interval associated SCN5A enhancer variants identify combined additive effects. [preprint]. 2024 March. Available from: https://doi.org/10.1101/2024.03.11.584440. doi: 10.1101/2024.03.11.584440.

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Smith A, Auer D, Johnson M, Sanchez E, Ross H, Ward C, Chakravarti A, Kapoor A. Cardiac muscle-restricted partial loss of Nos1ap expression has limited but significant impact on electrocardiographic features. G3 (Bethesda). 2023 Nov 1;13(11). doi: 10.1093/g3journal/jkad208. PubMed PMID: 37708408; PubMed Central PMCID: PMC10627271.

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Kapoor A, Nandakumar P, Auer DR, Sosa MX, Ross H, Bollinger J, Yan J, Berrios C, Chakravarti A. Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects. J Pediatr Surg. 2021 Dec;56(12):2286-2294. doi: 10.1016/j.jpedsurg.2021.04.010. Epub 2021 Apr 20. PubMed PMID: 34006365; PubMed Central PMCID: PMC8526751.

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Chatterjee S, Karasaki KM, Fries LE, Kapoor A, Chakravarti A. A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease. Genome Res. 2021 Dec;31(12):2199-2208. doi: 10.1101/gr.275667.121. Epub 2021 Nov 15. PubMed PMID: 34782358; PubMed Central PMCID: PMC8647834.

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Lee D, Kapoor A, Lee C, Mudgett M, Beer MA, Chakravarti A. Sequence-based correction of barcode bias in massively parallel reporter assays. Genome Res. 2021 Sep;31(9):1638-1645. doi: 10.1101/gr.268599.120. Epub 2021 Jul 20. PubMed PMID: 34285053; PubMed Central PMCID: PMC8415370.

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Kapoor A, Lee D, Zhu L, Soliman EZ, Grove ML, Boerwinkle E, Arking DE, Chakravarti A. Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval. Proc Natl Acad Sci U S A. 2019 May 28;116(22):10636-10645. doi: 10.1073/pnas.1808734116. Epub 2019 May 8. PubMed PMID: 31068470; PubMed Central PMCID: PMC6561183.

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Tilghman JM, Ling AY, Turner TN, Sosa MX, Krumm N, Chatterjee S, Kapoor A, Coe BP, Nguyen KH, Gupta N, Gabriel S, Eichler EE, Berrios C, Chakravarti A. Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. N Engl J Med. 2019 Apr 11;380(15):1421-1432. doi: 10.1056/NEJMoa1706594. PubMed PMID: 30970187; PubMed Central PMCID: PMC6596298.

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Gunadi, Iskandar K, Makhmudi A, Kapoor A. Combined Genetic Effects of RET and NRG1 Susceptibility Variants on Multifactorial Hirschsprung Disease in Indonesia. J Surg Res. 2019 Jan;233:96-99. doi: 10.1016/j.jss.2018.07.067. Epub 2018 Aug 17. PubMed PMID: 30502294.

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Lee D, Kapoor A, Safi A, Song L, Halushka MK, Crawford GE, Chakravarti A. Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants. Genome Res. 2018 Oct;28(10):1577-1588. doi: 10.1101/gr.234633.118. Epub 2018 Aug 23. PubMed PMID: 30139769; PubMed Central PMCID: PMC6169896.

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Kapoor A, Auer DR, Lee D, Chatterjee S, Chakravarti A. Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development. Hum Mol Genet. 2017 May 15;26(10):1811-1820. doi: 10.1093/hmg/ddx084. PubMed PMID: 28334784; PubMed Central PMCID: PMC6075580.

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Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. Hum Mol Genet. 2016 Dec 1;25(23):5265-5275. doi: 10.1093/hmg/ddw333. PubMed PMID: 27702942; PubMed Central PMCID: PMC6078638.

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Chatterjee S, Kapoor A, Akiyama JA, Auer DR, Lee D, Gabriel S, Berrios C, Pennacchio LA, Chakravarti A. Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. Cell. 2016 Oct 6;167(2):355-368.e10. doi: 10.1016/j.cell.2016.09.005. Epub 2016 Sep 29. PubMed PMID: 27693352; PubMed Central PMCID: PMC5113733.

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Kapoor A, Bakshy K, Xu L, Nandakumar P, Lee D, Boerwinkle E, Grove ML, Arking DE, Chakravarti A. Rare coding TTN variants are associated with electrocardiographic QT interval in the general population. Sci Rep. 2016 Jun 20;6:28356. doi: 10.1038/srep28356. PubMed PMID: 27321809; PubMed Central PMCID: PMC4913250.

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Cornish TC, Chakravarti A, Kapoor A, Halushka MK. HPASubC: A suite of tools for user subclassification of human protein atlas tissue images. J Pathol Inform. 2015;6:36. doi: 10.4103/2153-3539.159213. eCollection 2015. PubMed PMID: 26167380; PubMed Central PMCID: PMC4485190.

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Kapoor A, Jiang Q, Chatterjee S, Chakraborty P, Sosa MX, Berrios C, Chakravarti A. Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms. Hum Mol Genet. 2015 May 15;24(10):2997-3003. doi: 10.1093/hmg/ddv051. Epub 2015 Feb 9. PubMed PMID: 25666438; PubMed Central PMCID: PMC4406299.

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Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A. Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability. Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi: 10.1016/j.ajhg.2015.02.014. PubMed PMID: 25839327; PubMed Central PMCID: PMC4385176.

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Gunadi, Kapoor A, Ling AY, Rochadi, Makhmudi A, Herini ES, Sosa MX, Chatterjee S, Chakravarti A. Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease. J Pediatr Surg. 2014 Nov;49(11):1614-8. doi: 10.1016/j.jpedsurg.2014.04.011. Epub 2014 Aug 28. PubMed PMID: 25475805; PubMed Central PMCID: PMC4258000.

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Kapoor A, Sekar RB, Hansen NF, Fox-Talbot K, Morley M, Pihur V, Chatterjee S, Brandimarto J, Moravec CS, Pulit SL, Pfeufer A, Mullikin J, Ross M, Green ED, Bentley D, Newton-Cheh C, Boerwinkle E, Tomaselli GF, Cappola TP, Arking DE, Halushka MK, Chakravarti A. An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. Am J Hum Genet. 2014 Jun 5;94(6):854-69. doi: 10.1016/j.ajhg.2014.05.001. Epub 2014 May 22. PubMed PMID: 24857694; PubMed Central PMCID: PMC4121472.

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Auer DR, Sysa-Shah P, Bedja D, Simmers JL, Pak E, Dutra A, Cohn R, Gabrielson KL, Chakravarti A, Kapoor A. Generation of a cre recombinase-conditional Nos1ap over-expression transgenic mouse. Biotechnol Lett. 2014 Jun;36(6):1179-85. doi: 10.1007/s10529-014-1473-x. Epub 2014 Feb 22. PubMed PMID: 24563304; PubMed Central PMCID: PMC4850732.

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Chakravarti A, Kapoor A. Genetics. Mendelian puzzles. Science. 2012 Feb 24;335(6071):930-1. doi: 10.1126/science.1219301. PubMed PMID: 22362999.

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Kapoor A, Chakravarti A. Genetics and Genomics in Cardiovascular Gene Discovery. In: Hill J, Olson E, editors. Muscle: Fundamental Biology and Mechanisms of Disease [Internet] 1 ed. USA: Academic Press; 2012. Chapter 18; p.231-259. 1528p. Available from: https://doi.org/10.1016/C2009-0-61900-0.

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Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol. 2008 Aug;64(2):158-67. doi: 10.1002/ana.21428. PubMed PMID: 18756473.

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Kapoor A, Ratnapriya R, Kuruttukulam G, Anand A. A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14. Hum Genet. 2007 Jul;121(6):655-62. doi: 10.1007/s00439-007-0360-0. Epub 2007 Apr 13. PubMed PMID: 17431681.

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Cavalleri GL, Walley NM, Soranzo N, Mulley J, Doherty CP, Kapoor A, Depondt C, Lynch JM, Scheffer IE, Heils A, Gehrmann A, Kinirons P, Gandhi S, Satishchandra P, Wood NW, Anand A, Sander T, Berkovic SF, Delanty N, Goldstein DB, Sisodiya SM. A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy. Epilepsia. 2007 Apr;48(4):706-12. doi: 10.1111/j.1528-1167.2007.00977.x. PubMed PMID: 17437413.

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Vijai J, Kapoor A, Ravishankar HM, Cherian PJ, Kuruttukulam G, Rajendran B, Sridharan R, Rangan G, Girija AS, Jayalakshmi S, Mohandas S, Mani KS, Radhakrishnan K, Anand A. Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy. J Med Genet. 2005 May;42(5):439-42. doi: 10.1136/jmg.2004.023812. PubMed PMID: 15863675; PubMed Central PMCID: PMC1736047.

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Vijai J, Kapoor A, Ravishankar HM, Cherian PJ, Girija AS, Rajendran B, Rangan G, Jayalakshmi S, Mohandas S, Radhakrishnan K, Anand A. Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population. Hum Genet. 2003 Oct;113(5):461-3. doi: 10.1007/s00439-003-1003-8. Epub 2003 Aug 20. PubMed PMID: 12928862.

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Kapoor A, Vijai J, Ravishankar HM, Satishchandra P, Radhakrishnan K, Anand A. Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. J Genet. 2003 Apr-Aug;82(1-2):17-21. doi: 10.1007/BF02715876. PubMed PMID: 14631097.