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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: boulling a. Hum Genomics. 2019 Feb 12;13(1):8. doi: 10.1186/s40246-019-0193-7. Hum Genomics. 2019. PMID: 30755276 Free PMC article.
Assessing the pathological relevance of SPINK1 promoter variants.
Boulling A, Witt H, Chandak GR, Masson E, Paliwal S, Bhaskar S, Reddy DN, Cooper DN, Chen JM, Férec C. Boulling A, et al. Eur J Hum Genet. 2011 Oct;19(10):1066-73. doi: 10.1038/ejhg.2011.79. Epub 2011 May 25. Eur J Hum Genet. 2011. PMID: 21610753 Free PMC article.
Digging deeper into the intronic sequences of the SPINK1 gene.
Zou WB, Masson E, Boulling A, Cooper DN, Li ZS, Liao Z, Férec C, Chen JM. Zou WB, et al. Among authors: boulling a. Gut. 2016 Jun;65(6):1055-6. doi: 10.1136/gutjnl-2016-311428. Epub 2016 Feb 16. Gut. 2016. PMID: 26884424 No abstract available.
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: boulling a. Hum Mutat. 2019 Oct;40(10):1856-1873. doi: 10.1002/humu.23821. Epub 2019 Jun 24. Hum Mutat. 2019. PMID: 31131953
24 results