Pierre Lindenbaum

Nantes, France

Last Updated: 09/26/2026

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Found 38 publications

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.

Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2026

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

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

Journal: Arteriosclerosis, thrombosis, and vascular biology
Published: June 04, 2026

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm.

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm.

Journal: Cardiovascular research
Published: September 29, 2025

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm.

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm.

Journal: Cardiovascular research
Published: September 29, 2025

Corrigendum: Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Corrigendum: Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Journal: Frontiers in medicine
Published: March 17, 2025

Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.

Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.

Journal: medRxiv : the preprint server for health sciences
Published: November 01, 2024

Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Journal: Frontiers in medicine
Published: August 14, 2024

Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants.

Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants.

Journal: Cardiovascular research
Published: June 11, 2024

Spontaneous Akt2 deficiency in a colony of NOD mice exhibiting early diabetes.

Spontaneous Akt2 deficiency in a colony of NOD mice exhibiting early diabetes.

Journal: Scientific reports
Published: February 02, 2024

Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.

Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.

Journal: Stem cell research
Published: February 02, 2024

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.

Journal: Nature communications
Published: February 17, 2023

Heritable defects in telomere and mitotic function selectively predispose to sarcomas.

Heritable defects in telomere and mitotic function selectively predispose to sarcomas.

Journal: Science (New York, N.Y.)
Published: January 19, 2023
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Last Updated: 09/26/2026