Expanding ACMG variant classification guidelines into a general framework von Masson, Emmanuelle, Zou, Wen-Bin, Génin, Emmanuelle, Cooper, David N., Le Gac, Gerald, Fichou, Yann, Pu, Na, Rebours, Vinciane, Férec, Claude, Liao, Zhuan, Chen, Jian-Min

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The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis von Masson, Emmanuelle, Rebours, Vinciane, Buscail, Louis, Frete, Frédérique, Pagenault, Mael, Lachaux, Alain, Chevaux, Jean‐Baptiste, Génin, Emmanuelle, Cooper, David N., Férec, Claude, Chen, Jian‐Min

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A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young Fren... von Masson, Emmanuelle, Chen, Jian-Min, Audrézet, Marie-Pierre, Cooper, David N, Férec, Claude

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Carboxyl ester lipase hybrid 1 (CEL-HYB1) haplotypes confer varying risk for chronic pancreatitis von Berke, Gergő, Sándor, Máté, Xiao, Xunjun K., Lowe, Mark E., Ewers, Maren, Erőss, Bálint, Masson, Emmanuelle, Németh, Balázs Csaba, Vincze, Áron, Czakó, László, Rygiel, Agnieszka Magdalena, Rosendahl, Jonas, Chen, Jian-Min, Witt, Heiko, Hegyi, Péter, Sahin-Tóth, Miklós, Hegyi, Eszter

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Natural history of SPINK1 germline mutation related-pancreatitis von Muller, Nelly, Sarantitis, Ioannis, Rouanet, Marie, de Mestier, Louis, Halloran, Christopher, Greenhalf, William, Férec, Claude, Masson, Emmanuelle, Ruszniewski, Philippe, Lévy, Philippe, Neoptolemos, John, Buscail, Louis, Rebours, Vinciane

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Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date von Zhang, Guofu, Hu, Yuepeng, Yang, Qi, Pu, Na, Li, Gang, Zhang, Jingzhu, Tong, Zhihui, Masson, Emmanuelle, Cooper, David N, Chen, Jian-Min, Li, Weiqin

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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants von Wu, Hao, Lin, Jin-Huan, Tang, Xin-Ying, Marenne, Gaëlle, Zou, Wen-Bin, Schutz, Sacha, Masson, Emmanuelle, Génin, Emmanuelle, Fichou, Yann, Le Gac, Gerald, Férec, Claude, Liao, Zhuan, Chen, Jian-Min

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The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis von Burgos, Miguel, Philippe, Reginald, Antigny, Fabrice, Buscaglia, Paul, Masson, Emmanuelle, Mukherjee, Sreya, Dubar, Pauline, Le Maréchal, Cédric, Campeotto, Florence, Lebonvallet, Nicolas, Frieden, Maud, Llopis, Juan, Domingo, Beatriz, Stathopulos, Peter B., Ikura, Mitsuhiko, Brooks, Wesley, Guida, Wayne, Chen, Jian-Min, Ferec, Claude, Capiod, Thierry, Mignen, Olivier

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SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis von Zou, Wen-Bin, Tang, Xin-Ying, Zhou, Dai-Zhan, Qian, Yang-Yang, Hu, Liang-Hao, Yu, Fei-Fei, Yu, Dong, Wu, Hao, Deng, Shun-Jiang, Lin, Jin-Huan, Zhao, An-Jing, Zhao, Zhen-Hua, Wu, Hong-Yu, Zhu, Jia-Hui, Qian, Wei, Wang, Lei, Xin, Lei, Wang, Min-Jun, Wang, Li-Juan, Fang, Xue, He, Lin, Masson, Emmanuelle, Cooper, David N, Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min, Liao, Zhuan

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The polymorphic carboxyl-ester lipase (CEL) gene: novel copy number variants (CNVs) identified by both classical and high-throughput genetic analysis von Fjeld, Karianne, Masson, Emmanuelle Masson, Michl, Patrick, Stokowy, Tomasz, Lin, He, Steine, Solrun J., Johansson, Bente B., Dalva, Monica, El Jellas, Khadija, Ruffert, Claudia, Zou, Wen-Bin, Li, Zhao-Shen, Njølstad, Pål R, Chen, Jian-Min, Liao, Zhuan, Johansson, Stefan, Rosendahl, Jonas, Férec, Claude, Molven, Anders

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Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review von Chen, Jian-Min, Herzig, Anthony F, Génin, Emmanuelle, Masson, Emmanuelle, Cooper, David N, Férec, Claude

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Hereditary pancreatitis caused by triplication of the trypsinogen locus von Le Maréchal, Cédric, Masson, Emmanuelle, Chen, Jian-Min, Morel, Frédéric, Ruszniewski, Philippe, Levy, Philippe, Férec, Claude

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The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT>GC Variants Differ Markedly from Those Predicted von Chen, Jian-Min, Lin, Jin-Huan, Masson, Emmanuelle, Liao, Zhuan, Férec, Claude, Cooper, David N., Hayden, Matthew

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Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays von Lin, Jin-Huan, Wu, Hao, Zou, Wen-Bin, Masson, Emmanuelle, Fichou, Yann, Le Gac, Gerald, Cooper, David N., Férec, Claude, Liao, Zhuan, Chen, Jian-Min

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Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis von Werlin, Steven, Konikoff, Fred M., Halpern, Zamir, Barkay, Olga, Yerushalmi, Baruch, Broide, Efrat, Santo, Erwin, Shamir, Raanan, Shaoul, Ron, Shteyer, Eyal, Yaakov, Yasmin, Cohen, Michael, Kerem, Eitan, Ruszniewski, Philippe, Masson, Emmanuelle, Ferec, Claude, Wilschanski, Michael

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Common variants in glyoxalase I do not increase chronic pancreatitis risk von Kaune, Tom, Hollenbach, Marcus, Keil, Bettina, Chen, Jian-Min, Masson, Emmanuelle, Becker, Carla, Damm, Marko, Ruffert, Claudia, Grützmann, Robert, Hoffmeister, Albrecht, Te Morsche, Rene H M, Cavestro, Giulia Martina, Zuppardo, Raffaella Alessia, Saftoiu, Adrian, Malecka-Panas, Ewa, Głuszek, Stanislaw, Bugert, Peter, Lerch, Markus M, Weiss, Frank Ulrich, Zou, Wen-Bin, Liao, Zhuan, Hegyi, Peter, Drenth, Joost Ph, Riedel, Jan, Férec, Claude, Scholz, Markus, Kirsten, Holger, Tóth, Andrea, Ewers, Maren, Witt, Heiko, Griesmann, Heidi, Michl, Patrick, Rosendahl, Jonas

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SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER‐to‐Golgi Transport and Inducing ER Stress von Wang, Min‐Jun, Wang, Yuan‐Chen, Masson, Emmanuelle, Wang, Ya‐Hui, Yu, Dong, Qian, Yang‐Yang, Tang, Xin‐Ying, Deng, Shun‐Jiang, Hu, Liang‐Hao, Wang, Lei, Wang, Li‐Juan, Rebours, Vinciane, Cooper, David N., Férec, Claude, Li, Zhao‐Shen, Chen, Jian‐Min, Zou, Wen‐Bin, Liao, Zhuan

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Toward a clinical diagnostic pipeline for SPINK1 intronic variants von Tang, Xin-Ying, Lin, Jin-Huan, Zou, Wen-Bin, Masson, Emmanuelle, Boulling, Arnaud, Deng, Shun-Jiang, Cooper, David N, Liao, Zhuan, Férec, Claude, Li, Zhao-Shen, Chen, Jian-Min

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Functional analysis of eight missense mutations in the SPINK1 gene von Boulling, Arnaud, Keiles, Steven, Masson, Emmanuelle, Chen, Jian-Min, Férec, Claude

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Mutational analysis of ATP8B1 in patients with chronic pancreatitis von van der Woerd, Wendy L, van Haaften-Visser, Désirée Y, van de Graaf, Stan F J, Férec, Claude, Masson, Emmanuelle, Stapelbroek, Janneke M, Bugert, Peter, Witt, Heiko, Houwen, Roderick H J

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