The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals GB Ehret, T Ferreira, DI Chasman, AU Jackson, EM Schmidt, T Johnson, ... Nature genetics 48 (10), 1171-1184, 2016 | 447 | 2016 |
Loss of δ-catenin function in severe autism TN Turner, K Sharma, EC Oh, YP Liu, RL Collins, MX Sosa, DR Auer, ... Nature 520 (7545), 51-56, 2015 | 171 | 2015 |
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, 1421-1432, 2019 | 156 | 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 | 141 | 2015 |
Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency MX Sosa, IKA Sivakumar, S Maragh, V Veeramachaneni, R Hariharan, ... PLoS computational biology 8 (10), e1002737, 2012 | 91 | 2012 |
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 | 76 | 2015 |
Defining the contribution of CNTNAP2 to autism susceptibility S Sampath, S Bhat, S Gupta, A O’Connor, AB West, DE Arking, ... PloS one 8 (10), e77906, 2013 | 49 | 2013 |
Rapid and efficient human mutation detection using a bench‐top next‐generation DNA sequencer Q Jiang, T Turner, MX Sosa, A Rakha, S Arnold, A Chakravarti Human mutation 33 (1), 281-289, 2012 | 45 | 2012 |
Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease A Kapoor, AY Ling, A Makhmudi, ES Herini, MX Sosa, S Chatterjee, ... Journal of pediatric surgery 49 (11), 1614-1618, 2014 | 44 | 2014 |
αKlotho regulates age-associated vascular calcification and lifespan in zebrafish AP Singh, MX Sosa, J Fang, SK Shanmukhappa, A Hubaud, CH Fawcett, ... Cell reports 28 (11), 2767-2776. e5, 2019 | 29 | 2019 |
State MW, Talkowski ME, Cook E., Huganir R., Katsanis N., Chakravarti A. Loss of δ-catenin function in severe autism TN Turner, K Sharma, EC Oh, YP Liu, RL Collins, MX Sosa, DR Auer, ... Nature 520 (7545), 51-56, 2015 | 25 | 2015 |
Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects A Kapoor, P Nandakumar, DR Auer, MX Sosa, H Ross, J Bollinger, J Yan, ... Journal of pediatric surgery 56 (12), 2286-2294, 2021 | 5 | 2021 |
Multiple, independent, common variants overlapping known and putative gut enhancers at RET, SEMA3 and NRG1 underlie Hirschsprung disease risk in … A Kapoor, P Nandakumar, DR Auer, MX Sosa, H Ross, J Bollinger, J Yan, ... bioRxiv, 2020.06. 07.138719, 2020 | 1 | 2020 |