Molecular genetic anatomy and risk profile of Hirschsprung’s disease JM Tilghman, AY Ling, TN Turner, MX Sosa, N Krumm, S Chatterjee, ... New England Journal of Medicine 380 (15), 1421-1432, 2019 | 150 | 2019 |
Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability Q Jiang, S Arnold, T Heanue, KP Kilambi, B Doan, A Kapoor, AY Ling, ... The American Journal of Human Genetics 96 (4), 581-596, 2015 | 140 | 2015 |
Enhancer variants synergistically drive dysfunction of a gene regulatory network in Hirschsprung disease S Chatterjee, A Kapoor, JA Akiyama, DR Auer, D Lee, S Gabriel, ... Cell 167 (2), 355-368. e10, 2016 | 122 | 2016 |
An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval A Kapoor, RB Sekar, NF Hansen, K Fox-Talbot, M Morley, V Pihur, ... The American Journal of Human Genetics 94 (6), 854-869, 2014 | 102 | 2014 |
An idiopathic epilepsy syndrome linked to 3q13. 3‐q21 and missense mutations in the extracellular calcium sensing receptor gene A Kapoor, P Satishchandra, R Ratnapriya, R Reddy, J Kadandale, ... Annals of Neurology 64 (2), 158-167, 2008 | 89 | 2008 |
Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms A Kapoor, Q Jiang, S Chatterjee, P Chakraborty, MX Sosa, C Berrios, ... Human molecular genetics 24 (10), 2997-3003, 2015 | 75 | 2015 |
A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy GL Cavalleri, NM Walley, N Soranzo, J Mulley, CP Doherty, A Kapoor, ... Epilepsia 48 (4), 706-712, 2007 | 74 | 2007 |
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease CS Tang, H Gui, A Kapoor, JH Kim, B Luzón-Toro, A Pelet, G Burzynski, ... Human molecular genetics 25 (23), 5265-5275, 2016 | 44 | 2016 |
Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease Gunadi, A Kapoor, AY Ling, A Makhmudi, ES Herini, MX Sosa, ... Journal of Pediatric Surgery, 2014 | 44 | 2014 |
Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population J Vijai, A Kapoor, HM Ravishankar, PJ Cherian, AS Girija, B Rajendran, ... Human Genetics 113 (5), 461-463, 2003 | 26 | 2003 |
Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants D Lee, A Kapoor, A Safi, L Song, MK Halushka, GE Crawford, ... Genome research 28 (10), 1577-1588, 2018 | 25 | 2018 |
Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval A Kapoor, D Lee, L Zhu, EZ Soliman, ML Grove, E Boerwinkle, DE Arking, ... Proceedings of the National Academy of Sciences 116 (22), 10636-10645, 2019 | 24 | 2019 |
Mendelian puzzles A Chakravarti, A Kapoor Science 335 (6071), 930-931, 2012 | 24 | 2012 |
Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India A Kapoor, J Vijai, HM Ravishankar, P Satishchandra, K Radhakrishnan, ... Journal of Genetics 82 (1-2), 17-21, 2003 | 23 | 2003 |
Combined genetic effects of RET and NRG1 susceptibility variants on multifactorial Hirschsprung disease in Indonesia K Iskandar, A Makhmudi, A Kapoor journal of surgical research 233, 96-99, 2019 | 21 | 2019 |
A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12–q14 A Kapoor, R Ratnapriya, G Kuruttukulam, A Anand Human Genetics 121 (6), 655-662, 2007 | 19 | 2007 |
HPASubC: A suite of tools for user subclassification of human protein atlas tissue images TC Cornish, A Chakravarti, A Kapoor, MK Halushka Journal of pathology informatics 6 (1), 36, 2015 | 16 | 2015 |
A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease S Chatterjee, K Kameko M, LE Fries, A Kapoor, A Chakravarti Genome Research 31 (12), 2199-2208, 2021 | 12 | 2021 |
Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy J Vijai, A Kapoor, HM Ravishankar, PJ Cherian, G Kuruttukulam, ... Journal of Medical Genetics 42 (5), 439-442, 2005 | 11 | 2005 |
Rare coding TTN variants are associated with electrocardiographic QT interval in the general population A Kapoor, K Bakshy, L Xu, P Nandakumar, D Lee, E Boerwinkle, ... Scientific reports 6 (1), 28356, 2016 | 8 | 2016 |