Pierre Lindenbaum

7PUBLICATIONS
45CO-AUTHORS
Genetic immunologyNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)Medical biochemistry - lipids
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Publications (7)

|Jan 09, 2026
Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm.

Milène Fréneau, Raphael Blanchet, Maxence Bodet

|Aug 04, 2025
Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants.

Taisuke Ishikawa, Hiroki Kimoto, Akiko Seki

|Apr 20, 2024
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.

Manon Baudic, Hiroshige Murata, Fernanda M Bosada

|Jul 28, 2022
Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.

Wieneke Dijk, Mathilde Di Filippo, Sander Kooijman

|Apr 23, 2022
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.

Xavier Vanhoye, Alexandre Janin, Amandine Caillaud

|Oct 09, 2019
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.

Cédric Le Caignec, Olivier Pichon, Annaig Briand

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