Pierre Lindenbaum

Pierre Lindenbaum

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Pierre Lindenbaum

Pierre Lindenbaum

Publications by authors named "Pierre Lindenbaum"

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bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files.

Bioinformatics 2018 04;34(7):1224-1225

Cardiovascular Genetics, L'Institut du Thorax, INSERM, CNRS, UNIV Nantes, Nantes 44007, France.

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http://dx.doi.org/10.1093/bioinformatics/btx734DOI Listing
April 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.

Int J Cardiol 2016 Mar 11;207:349-58. Epub 2016 Jan 11.

Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, l'institut du thorax, Nantes, France; Centre National de la Recherche Scientifique (CNRS) UMR 6291, l'institut du thorax, Nantes, France; Université de Nantes, l'institut du thorax, Nantes, France; Centre Hospitalier Universitaire (CHU) de Nantes, l'institut du thorax, Service de Cardiologie, Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.01.052DOI Listing
March 2016

mod_bio: Apache modules for Next-Generation sequencing data.

Bioinformatics 2015 Jan 4;31(1):112-3. Epub 2014 Sep 4.

Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L'Institut du Thorax, Centre National de la Recherche Scientifique (CNRS) UMR 6291, Centre Hospitalier Universitaire (CHU) de Nantes, L'Institut du Thorax, Service de Cardiologie, 44000 Nantes and Université de Nantes, 44000 Nantes, France Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L'Institut du Thorax, Centre National de la Recherche Scientifique (CNRS) UMR 6291, Centre Hospitalier Universitaire (CHU) de Nantes, L'Institut du Thorax, Service de Cardiologie, 44000 Nantes and Université de Nantes, 44000 Nantes, France Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L'Institut du Thorax, Centre National de la Recherche Scientifique (CNRS) UMR 6291, Centre Hospitalier Universitaire (CHU) de Nantes, L'Institut du Thorax, Service de Cardiologie, 44000 Nantes and Université de Nantes, 44000 Nantes, France Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L'Institut du Thorax, Centre National de la Recherche Scientifique (CNRS) UMR 6291, Centre Hospitalier Universitaire (CHU) de Nantes, L'Institut du Thorax, Service de Cardiologie, 44000 Nantes and Université de Nantes, 44000 Nantes, France.

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http://dx.doi.org/10.1093/bioinformatics/btu547DOI Listing
January 2015

NGS library preparation may generate artifactual integration sites of AAV vectors.

Nat Med 2014 Jun;20(6):577-8

1] INSERM, UMR 1089, Nantes, France. [2] University of Nantes, Nantes, France. [3] Nantes University Hospital, Nantes, France.

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http://dx.doi.org/10.1038/nm.3578DOI Listing
June 2014

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Am J Hum Genet 2013 Dec 21;93(6):1100-7. Epub 2013 Nov 21.

Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France; Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853004PMC
December 2013

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Nat Genet 2013 Sep 21;45(9):1044-9. Epub 2013 Jul 21.

Department of Clinical and Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869788PMC
September 2013

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

Bioinformatics 2011 Nov 7;27(22):3200-1. Epub 2011 Oct 7.

Institut du thorax, Inserm UMR 915, Centre Hospitalier Universitaire de Nantes, 44000 Nantes, France.

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http://dx.doi.org/10.1093/bioinformatics/btr554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208396PMC
November 2011

BioStar: an online question & answer resource for the bioinformatics community.

PLoS Comput Biol 2011 Oct 27;7(10):e1002216. Epub 2011 Oct 27.

Nutrition and Genomics Laboratory, Jean Mayer-United States Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1002216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3203049PMC
October 2011

The Gene Wiki: community intelligence applied to human gene annotation.

Nucleic Acids Res 2010 Jan 15;38(Database issue):D633-9. Epub 2009 Sep 15.

Genomics Institute of the Novartis Research Foundation, San Diego, CA 92121, USA.

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http://dx.doi.org/10.1093/nar/gkp760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808918PMC
January 2010