Emmanuel Vaillant

Lille, France

Last Updated: 09/26/2026

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Found 36 publications

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.

Journal: The Journal of clinical investigation

Published: June 23, 2025

Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.

Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.

Journal: European journal of endocrinology

Published: October 09, 2024

Monoallelic pathogenic variants in LEPR do not cause obesity.

Monoallelic pathogenic variants in LEPR do not cause obesity.

Journal: American journal of human genetics

Published: August 19, 2024

Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function.

Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function.

Journal: Nature communications

Published: January 23, 2024

Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine.

Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine.

Journal: Diabetes & metabolism

Published: October 27, 2023

Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics.

Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics.

Journal: Molecular metabolism

Published: October 12, 2023

Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes.

Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes.

Journal: Diabetes care

Published: October 02, 2023

Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas.

Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas.

Journal: Diabetologia

Published: July 10, 2023

Esophageal cancer - French intergroup clinical practice guidelines for diagnosis, treatments and follow-up (TNCD, SNFGE, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO, ACHBT, SFP, RENAPE, SNFCP, AFEF, SFR).

Esophageal cancer - French intergroup clinical practice guidelines for diagnosis, treatments and follow-up (TNCD, SNFGE, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO, ACHBT, SFP, RENAPE, SNFCP, AFEF, SFR).

Journal: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver

Published: April 19, 2023

Biallelic Mutations in P4HTM Cause Syndromic Obesity.

Biallelic Mutations in P4HTM Cause Syndromic Obesity.

Journal: Diabetes

Published: December 12, 2022

Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.

Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.

Journal: The lancet. Diabetes & endocrinology

Published: August 29, 2022

Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis.

Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis.

Journal: Journal of medical genetics

Published: October 11, 2021

Showing 1-12 of 36

Last Updated: 09/26/2026