Publications by authors named "Pierre Lindenbaum"

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Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants.
Taisuke Ishikawa, Hiroki Kimoto, Akiko Seki, Manabu Shirai, Kenta Uto, Pierre Lindenbaum

Cardiovasc Res· September 2025

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Corrigendum: Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Hager Jaouadi, Victor Morel, Helene Martel, Pierre Lindenbaum, Lorcan Lamy de la Chapelle

Front Med (Lausanne)· May 2025

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Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.
Antoine Rimbert, Damien Duval, Daniel Trujillano, Florence Kyndt, Antoine Jobbe-Duval, Pierre Lindenbaum

medRxiv· October 2024

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Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Hager Jaouadi, Victor Morel, Helene Martel, Pierre Lindenbaum, Lorcan Lamy de la Chapelle

Front Med (Lausanne)· October 2024

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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.
Michelle Geryk, Robin Canac, Virginie Forest, Pierre Lindenbaum, Aurore Girardeau

Stem Cell Res· June 2024

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TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Manon Baudic, Hiroshige Murata, Fernanda M Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum

Nat Commun· April 2024

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Spontaneous Akt2 deficiency in a colony of NOD mice exhibiting early diabetes.
Julie Hervé, Karine Haurogné, Marie Allard, Sophie Sourice, Pierre Lindenbaum

Sci Rep· April 2024

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Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
Mandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, Milita Zaheed, Emma Rath, Pierre Lindenbaum

Science· January 2023

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Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Pierre Lindenbaum

Genet Med· September 2022

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Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Adeline Goudal, Matilde Karakachoff, Pierre Lindenbaum, Estelle Baron, Stéphanie Bonnaud

Hum Mutat· September 2022

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Identification of a Gain-of-Function Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Wieneke Dijk, Mathilde Di Filippo, Sander Kooijman, Robin van Eenige, Antoine Rimbert, Pierre Lindenbaum

Circulation· September 2022

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CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
Xavier Vanhoye, Alexandre Janin, Amandine Caillaud, Antoine Rimbert, Fabienne Venet, Pierre Lindenbaum

Int J Mol Sci· April 2022

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Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Antoine Rimbert, Xavier Vanhoye, Dramane Coulibaly, Marie Marrec, Matthieu Pichelin, Pierre Lindenbaum

Arterioscler Thromb Vasc Biol· January 2021

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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Cédric Le Caignec, Olivier Pichon, Annaig Briand, Benoît de Courtivron, Christian Bonnard, Pierre Lindenbaum

Eur J Hum Genet· March 2020

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Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Nicolas Chatron, Kevin Cassinari, Olivier Quenez, Stéphanie Baert-Desurmont, Claire Bardel, Pierre Lindenbaum

Hum Mutat· November 2019

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RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Cedric Le Caignec, Benjamin Ory, François Lamoureux, Marie-Francoise O'Donohue, Emilien Orgebin, Pierre Lindenbaum

Am J Hum Genet· November 2019

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Identification of a new exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, Pierre Lindenbaum

Blood· August 2018

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bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files.
Pierre Lindenbaum, Richard Redon

Bioinformatics· April 2018

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Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
Romain Bourcier, Solena Le Scouarnec, Stéphanie Bonnaud, Matilde Karakachoff, Emmanuelle Bourcereau, Pierre Lindenbaum

Am J Hum Genet· January 2018

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Pierre Lindenbaum

Am J Hum Genet· November 2017

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Accurate Identification and Quantification of DNA Species by Next-Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect Cells.
Magalie Penaud-Budloo, Emilie Lecomte, Aurélien Guy-Duché, Sylvie Saleun, Alain Roulet, Pierre Lindenbaum

Hum Gene Ther Methods· June 2017

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Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.
Vincent Portero, Solena Le Scouarnec, Zeineb Es-Salah-Lamoureux, Sophie Burel, Jean-Baptiste Gourraud, Pierre Lindenbaum

J Am Heart Assoc· June 2016

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De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Bertrand Isidor, Sébastien Küry, Jill A Rosenfeld, Thomas Besnard, Sébastien Schmitt, Pierre Lindenbaum

Hum Mutat· April 2016

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Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.
Xavier Daumy, Mohamed-Yassine Amarouch, Pierre Lindenbaum, Stéphanie Bonnaud, Eric Charpentier

Int J Cardiol· March 2016

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Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta.
Marta Sanchez-Castro, Hadja Eldjouzi, Eric Charpentier, Pierre-François Busson, Quentin Hauet, Pierre Lindenbaum

Circ Cardiovasc Genet· February 2016

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