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Maria Ximena Sosa
Maria Ximena Sosa
Scientist I, Novartis Institutes for Biomedical Research
在 novartis.com 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
4372016
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
1392015
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
432014
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
272019
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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