Claude Ferec

Brest, 29200, France

Last Updated: 09/26/2026

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Found 233 publications

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification.

Journal: HGG advances

Published: November 21, 2025

Compound Heterozygous Complete Loss-of-Function SPINK1 Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency.

Compound Heterozygous Complete Loss-of-Function SPINK1 Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency.

Journal: Genes

Published: June 24, 2025

Genetic and Electrophysiological Characterization of Acute Recurrent Pancreatitis in Israeli Patients.

Genetic and Electrophysiological Characterization of Acute Recurrent Pancreatitis in Israeli Patients.

Journal: Pancreas

Published: June 24, 2025

Cis-Regulation of the CFTR Gene in Pancreatic Cells.

Cis-Regulation of the CFTR Gene in Pancreatic Cells.

Journal: International journal of molecular sciences

Published: March 21, 2025

TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.

TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.

Journal: Journal of gastroenterology

Published: February 18, 2025

p.Phe508del-CFTR Trafficking: A Protein Quality Control Perspective Through UPR, UPS, and Autophagy.

p.Phe508del-CFTR Trafficking: A Protein Quality Control Perspective Through UPR, UPS, and Autophagy.

Journal: International journal of molecular sciences

Published: February 04, 2025

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Journal: Nature communications

Published: December 18, 2024

SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.

SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.

Journal: American journal of human genetics

Published: December 12, 2024

Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.

Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.

Journal: Gut

Published: September 16, 2024

Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.

Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.

Journal: Human genomics

Published: September 02, 2024

Cystic Fibrosis: A Journey through Time and Hope.

Cystic Fibrosis: A Journey through Time and Hope.

Journal: International journal of molecular sciences

Published: August 14, 2024

Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism.

Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism.

Journal: American journal of human genetics

Published: April 03, 2024

Showing 1-12 of 233

Last Updated: 09/26/2026