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SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
Zou WB, Tang XY, Zhou DZ, Qian YY, Hu LH, Yu FF, Yu D, Wu H, Deng SJ, Lin JH, Zhao AJ, Zhao ZH, Wu HY, Zhu JH, Qian W, Wang L, Xin L, Wang MJ, Wang LJ, Fang X, He L, Masson E, Cooper DN, Férec C, Li ZS, Chen JM, Liao Z. Zou WB, et al. Among authors: deng sj. Clin Transl Gastroenterol. 2018 Nov 12;9(11):204. doi: 10.1038/s41424-018-0069-5. Clin Transl Gastroenterol. 2018. PMID: 30420730 Free PMC article.
Toward a clinical diagnostic pipeline for SPINK1 intronic variants.
Tang XY, Lin JH, Zou WB, Masson E, Boulling A, Deng SJ, Cooper DN, Liao Z, Férec C, Li ZS, Chen JM. Tang XY, et al. Among authors: deng sj. Hum Genomics. 2019 Feb 12;13(1):8. doi: 10.1186/s40246-019-0193-7. Hum Genomics. 2019. PMID: 30755276 Free PMC article.
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Lin JH, Tang XY, Boulling A, Zou WB, Masson E, Fichou Y, Raud L, Le Tertre M, Deng SJ, Berlivet I, Ka C, Mort M, Hayden M, Leman R, Houdayer C, Le Gac G, Cooper DN, Li ZS, Férec C, Liao Z, Chen JM. Lin JH, et al. Among authors: deng sj. Hum Mutat. 2019 Oct;40(10):1856-1873. doi: 10.1002/humu.23821. Epub 2019 Jun 24. Hum Mutat. 2019. PMID: 31131953
Analysis of GPRC6A variants in different pancreatitis etiologies.
Kaune T, Ruffert C, Hesselbarth N, Damm M, Krug S, Cardinal von Widdern J, Masson E, Chen JM, Rebours V, Buscail L, Férec C, Grützmann R, Te Morsche RHM, Drenth JP, Cavestro GM, Zuppardo RA, Saftoiu A, Malecka-Panas E, Głuszek S, Bugert P, Lerch MM, Sendler M, Weiss FU, Zou WB, Deng SJ, Liao Z, Scholz M, Kirsten H, Hegyi P, Witt H, Michl P, Griesmann H, Rosendahl J. Kaune T, et al. Among authors: deng sj. Pancreatology. 2020 Oct;20(7):1262-1267. doi: 10.1016/j.pan.2020.08.001. Epub 2020 Aug 8. Pancreatology. 2020. PMID: 32859544
91 results