Year |
Citation |
Score |
2019 |
Takeda AJ, Maher TJ, Zhang Y, Lanahan SM, Bucklin ML, Compton SR, Tyler PM, Comrie WA, Matsuda M, Olivier KN, Pittaluga S, McElwee JJ, Long Priel DA, Kuhns DB, Williams RL, et al. Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology. Nature Communications. 10: 4364. PMID 31554793 DOI: 10.1038/S41467-019-12311-5 |
0.3 |
|
2017 |
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, ... ... Zhang Y, et al. Germline hypomorphic CARD11 mutations in severe atopic disease. Nature Genetics. PMID 28628108 DOI: 10.1038/Ng.3898 |
0.324 |
|
2017 |
Afzali B, Grönholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, et al. BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. Nature Immunology. PMID 28530713 DOI: 10.1038/Ni.3753 |
0.322 |
|
2015 |
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, et al. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science (New York, N.Y.). 349: 436-40. PMID 26206937 DOI: 10.1126/Science.Aaa1663 |
0.305 |
|
2015 |
Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, et al. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood. 125: 591-9. PMID 25359994 DOI: 10.1182/Blood-2014-09-602763 |
0.313 |
|
2014 |
Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, Butrick M, Matthews H, Price S, Biancalana M, Wang X, Richards M, Pozos T, Barlan I, Ozen A, et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. The Journal of Experimental Medicine. 211: 2537-47. PMID 25488983 DOI: 10.1084/Jem.20141759 |
0.314 |
|
2014 |
Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science (New York, N.Y.). 345: 1623-7. PMID 25213377 DOI: 10.1126/Science.1255904 |
0.306 |
|
2014 |
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. The Journal of Allergy and Clinical Immunology. 133: 1400-9, 1409.e1-5. PMID 24589341 DOI: 10.1016/J.Jaci.2014.02.013 |
0.337 |
|
2013 |
Buchbinder DK, Stinson JR, Nugent DJ, Su H, Dalgard C, Sukumar G, Zhang Y, Snow AL. A Novel Gain-Of-Function Mutation In The CARD Domain Of CARD11 (C49Y) Results In Benta Disease Blood. 122: 3485-3485. DOI: 10.1182/Blood.V122.21.3485.3485 |
0.331 |
|
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