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Maria Ximena Sosa
Maria Ximena Sosa
Scientist I, Novartis Institutes for Biomedical Research
Verified email at novartis.com
Title
Cited by
Cited by
Year
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
4302016
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
1672015
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
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
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
882012
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
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
482013
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
452012
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
422014
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
262019
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
182015
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
52021
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
12020
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