Lin JH - Search Results

1

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.

Wu H, Lin JH, Tang XY, Marenne G, Zou WB, Schutz S, Masson E, Génin E, Fichou Y, Le Gac G, Férec C, Liao Z, Chen JM. Wu H, et al. Among authors: lin jh. Hum Genomics. 2024 Feb 27;18(1):21. doi: 10.1186/s40246-024-00586-9. Hum Genomics. 2024. PMID: 38414044 Free PMC article.

2

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: lin jh. 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.

3

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: lin jh. Hum Genomics. 2019 Feb 12;13(1):8. doi: 10.1186/s40246-019-0193-7. Hum Genomics. 2019. PMID: 30755276 Free PMC article.

4

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. Hum Mutat. 2019 Oct;40(10):1856-1873. doi: 10.1002/humu.23821. Epub 2019 Jun 24. Hum Mutat. 2019. PMID: 31131953

5

The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.

Chen JM, Lin JH, Masson E, Liao Z, Férec C, Cooper DN, Hayden M. Chen JM, et al. Among authors: lin jh. Curr Genomics. 2020 Jan;21(1):56-66. doi: 10.2174/1389202921666200210141701. Curr Genomics. 2020. PMID: 32655299 Free PMC article.

6

Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.

Lin JH, Wu H, Zou WB, Masson E, Fichou Y, Le Gac G, Cooper DN, Férec C, Liao Z, Chen JM. Lin JH, et al. Front Genet. 2021 Aug 5;12:701652. doi: 10.3389/fgene.2021.701652. eCollection 2021. Front Genet. 2021. PMID: 34422003 Free PMC article.

7

5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.

Lin JH, Masson E, Boulling A, Hayden M, Cooper DN, Férec C, Liao Z, Chen JM. Lin JH, et al. Hum Mutat. 2020 Aug;41(8):1358-1364. doi: 10.1002/humu.24029. Epub 2020 May 12. Hum Mutat. 2020. PMID: 32369867

8

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.

Masson E, Zou WB, Pu N, Rebours V, Génin E, Wu H, Lin JH, Wang YC; Franco-Chinese GREPAN Study Group; Li ZS, Cooper DN, Férec C, Liao Z, Chen JM. Masson E, et al. Among authors: lin jh. Pancreatology. 2023 Aug;23(5):491-506. doi: 10.1016/j.pan.2023.04.004. Epub 2023 Apr 20. Pancreatology. 2023. PMID: 37581535

9

Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis.

Lin JH, Boulling A, Masson E, Cooper DN, Li ZS, Férec C, Liao Z, Chen JM. Lin JH, et al. Gut. 2020 Apr;69(4):785-786. doi: 10.1136/gutjnl-2019-318564. Epub 2019 Mar 12. Gut. 2020. PMID: 30862690 No abstract available.

10

Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis.

Fjeld K, Masson E, Lin JH, Michl P, Stokowy T, Gravdal A, El Jellas K, Steine SJ, Hoem D, Johansson BB, Dalva M, Ruffert C, Zou WB, Li ZS, Njølstad PR, Chen JM, Liao Z, Johansson S, Rosendahl J, Férec C, Molven A. Fjeld K, et al. Among authors: lin jh. Pancreatology. 2020 Apr;20(3):377-384. doi: 10.1016/j.pan.2020.01.011. Epub 2020 Jan 20. Pancreatology. 2020. PMID: 32007358

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