Emmanuelle Masson

Brest, France

Last Updated: 09/26/2026

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Found 67 publications

Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network.

Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network.

Journal: Annales d'endocrinologie

Published: March 21, 2026

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

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Journal: American journal of human genetics

Published: September 16, 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

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

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

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

Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.

Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.

Journal: Clinics and research in hepatology and gastroenterology

Published: March 19, 2024

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: March 11, 2024

Showing 1-12 of 67

Last Updated: 09/26/2026