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Ashish Kapoor
Ashish Kapoor
Email confirmado em uth.tmc.edu
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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
1482019
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
1382015
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
1162016
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
1022014
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
862008
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
732015
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
732007
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
422014
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
402016
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
252003
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
242019
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
242018
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
232003
Mendelian puzzles
A Chakravarti, A Kapoor
Science 335 (6071), 930-931, 2012
222012
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
192019
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
192007
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
162015
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
122021
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
112005
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
72016
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