Mathilde Di-Filippo

14PUBLICATIONS

52CO-AUTHORS

Gene mappingEpigenetics (incl. genome methylation and epigenomics)Electroanalytical chemistryMedical biotechnology diagnostics (incl. biosensors)Nutritional epidemiology

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Publications (14)

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|Jun 04, 2026

LDLR-3'UTR Deletions Identified as a Genetic Cause of Hypobetalipoproteinemia: Evidence From Familial and Population-Based Studies.

|Jun 03, 2025

A rare gain of function variant of hepatic lipase attenuates hypercholesterolaemia and atherosclerosis in mice via an LDL receptor-independent mechanism.

Thibaud Sotin, Xiaoke Ge, Milena Schönke

|Mar 05, 2025

Interference of hypertriglyceridemia on total cholesterol assay with the new CHOL2 Abbott method on Architect analyser.

Mélina Terrasse, Denis Monneret, Laurent Desmurs

|Nov 25, 2024

Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Laurie Surles, Alexandre Janin, Corentin Molitor

|Jul 29, 2024

Evaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare APOE variants carriers.

Louise Michenaud, Nathanaël Marrié, Antoine Rimbert

|Apr 06, 2024

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.

Mathilde Bonnot Ruget, Philippe Moulin, Cécile Pagan

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Frequent Collaborators

Bertrand Cariou

Antoine Rimbert

Jean-Pierre Rabès

Wieneke Dijk

Pierre Lindenbaum

Amandine Caillaud

Patrick C N Rensen

Cédric Le May

Oriane Marmontel

Sander Kooijman

Frequent Collaborators

Bertrand Cariou

Antoine Rimbert

Jean-Pierre Rabès

Wieneke Dijk