Found: 34

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  • DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.

    Published in:
    PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0179364
    By:
    • Persyn, Elodie;
    • Karakachoff, Matilde;
    • Le Scouarnec, Solena;
    • Le Clézio, Camille;
    • Campion, Dominique;
    • Consortium, French Exome;
    • Schott, Jean-Jacques;
    • Redon, Richard;
    • Bellanger, Lise;
    • Dina, Christian
    Publication type:
    Article

  • Large scale variation in DNA copy number in chicken breeds.

    Published in:
    BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-398
    By:
    • Crooijmans, Richard P. M. A.;
    • Fife, Mark S.;
    • Fitzgerald, Tomas W.;
    • Strickland, Shurnevia;
    • Cheng, Hans H.;
    • Kaiser, Pete;
    • Redon, Richard;
    • Groenen, Martien A. M.
    Publication type:
    Article

  • Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management.

    Published in:
    Human Mutation, 2022, v. 43, n. 9, p. 1333, doi. 10.1002/humu.24436
    By:
    • Goudal, Adeline;
    • Karakachoff, Matilde;
    • Lindenbaum, Pierre;
    • Baron, Estelle;
    • Bonnaud, Stéphanie;
    • Kyndt, Florence;
    • Arnaud, Marine;
    • Minois, Damien;
    • Bourcereau, Emmanuelle;
    • Thollet, Aurélie;
    • Deleuze, Jean‐François;
    • Genin, Emmanuelle;
    • Wiart, François;
    • Pasquié, Jean‐Luc;
    • Galand, Vincent;
    • Sacher, Frédéric;
    • Dina, Christian;
    • Redon, Richard;
    • Bezieau, Stéphane;
    • Schott, Jean‐Jacques
    Publication type:
    Article

  • Deciphering Transcriptional Networks during Human Cardiac Development.

    Published in:
    Cells (2073-4409), 2022, v. 11, n. 23, p. 3915, doi. 10.3390/cells11233915
    By:
    • Canac, Robin;
    • Cimarosti, Bastien;
    • Girardeau, Aurore;
    • Forest, Virginie;
    • Olchesqui, Pierre;
    • Poschmann, Jeremie;
    • Redon, Richard;
    • Lemarchand, Patricia;
    • Gaborit, Nathalie;
    • Lamirault, Guillaume
    Publication type:
    Article

  • Fine-scale human genetic structure in Western France.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 6, p. 831, doi. 10.1038/ejhg.2014.175
    By:
    • Karakachoff, Matilde;
    • Duforet-Frebourg, Nicolas;
    • Simonet, Floriane;
    • Le Scouarnec, Solena;
    • Pellen, Nadine;
    • Lecointe, Simon;
    • Charpentier, Eric;
    • Gros, Françoise;
    • Cauchi, Stéphane;
    • Froguel, Philippe;
    • Copin, Nane;
    • Le Tourneau, Thierry;
    • Probst, Vincent;
    • Le Marec, Hervé;
    • Molinaro, Sabrina;
    • Balkau, Beverley;
    • Redon, Richard;
    • Schott, Jean-Jacques;
    • Blum, Michael GB;
    • Dina, Christian
    Publication type:
    Article

  • Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 6, p. 759, doi. 10.1038/sj.ejhg.5201613
    By:
    • Redon, Richard;
    • Baujat, Geneviève;
    • Sanlaville, Damien;
    • Le Merrer, Martine;
    • Vekemans, Michel;
    • Munnich, Arnold;
    • Carter, Nigel P.;
    • Cormier-Daire, Valérie;
    • Colleaux, Laurence
    Publication type:
    Article

  • A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

    Published in:
    2018
    By:
    • Vuillaume, Marie‐Laure;
    • Jeanne, Médéric;
    • Xue, Li;
    • Blesson, Sophie;
    • Denommé‐Pichon, Anne‐Sophie;
    • Alirol, Servane;
    • Brulard, Céline;
    • Colin, Estelle;
    • Isidor, Bertrand;
    • Gilbert‐Dussardier, Brigitte;
    • Odent, Sylvie;
    • Parent, Philippe;
    • Donnart, Audrey;
    • Redon, Richard;
    • Bézieau, Stéphane;
    • Rondard, Philippe;
    • Laumonnier, Frédéric;
    • Toutain, Annick;
    • Vuillaume, Marie-Laure;
    • Denommé-Pichon, Anne-Sophie
    Publication type:
    letter

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

    Published in:
    Bioinformatics, 2018, v. 34, n. 7, p. 1224, doi. 10.1093/bioinformatics/btx734
    By:
    • Lindenbaum, Pierre;
    • Redon, Richard
    Publication type:
    Article

  • mod_bio: Apache modules for Next-Generation sequencing data.

    Published in:
    2015
    By:
    • Lindenbaum, Pierre;
    • Redon, Richard
    Publication type:
    Product Review

  • Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes.

    Published in:
    2016
    By:
    • Yagihara, Nobue;
    • Watanabe, Hiroshi;
    • Barnett, Phil;
    • Duboscq‐Bidot, Laetitia;
    • Thomas, Atack C.;
    • Yang, Ping;
    • Ohno, Seiko;
    • Hasegawa, Kanae;
    • Kuwano, Ryozo;
    • Chatel, Stéphanie;
    • Redon, Richard;
    • Schott, Jean‐Jacques;
    • Probst, Vincent;
    • Koopmann, Tamara T.;
    • Bezzina, Connie R.;
    • Wilde, Arthur A. M.;
    • Nakano, Yukiko;
    • Aiba, Takeshi;
    • Miyamoto, Yoshihiro;
    • Kamakura, Shiro
    Publication type:
    journal article

  • Is there an inherited anatomical conformation favoring aneurysmal formation of the anterior communicating artery?

    Published in:
    Journal of Neurosurgery, 2017, v. 126, n. 5, p. 1598, doi. 10.3171/2016.4.JNS153032
    By:
    • Bourcier, Romain;
    • Lenoble, Cédric;
    • Guyomarch-Delasalle, Béatrice;
    • Daumas-Duport, Benjamin;
    • Papagiannaki, Chrysanthi;
    • Redon, Richard;
    • Desal, Hubert
    Publication type:
    Article

  • Moment estimators of relatedness from low-depth whole-genome sequencing data.

    Published in:
    BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-04795-8
    By:
    • Herzig, Anthony F.;
    • Ciullo, M.;
    • FranceGenRef Consortium;
    • Deleuze, Jean-François;
    • Génin, Emmanuelle;
    • Redon, Richard;
    • Adjou, Chantal;
    • Chatel, Stéphanie;
    • Férec, Claude;
    • Goldberg, Marcel;
    • Halbout, Philippe-Antoine;
    • Le Marec, Hervé;
    • L'Helgouach, David;
    • Rouault, Karen;
    • Schott, Jean-Jacques;
    • Vogelsperger, Anne;
    • Zins, Marie;
    • Bacq, Delphine;
    • Blanchet, Hélène;
    • Boland, Anne
    Publication type:
    Article

  • Origins and functional impact of copy number variation in the human genome.

    Published in:
    Nature, 2010, v. 464, n. 7289, p. 704, doi. 10.1038/nature08516
    By:
    • Conrad, Donald F.;
    • Pinto, Dalila;
    • Redon, Richard;
    • Feuk, Lars;
    • Gokcumen, Omer;
    • Yujun Zhang;
    • Aerts, Jan;
    • Andrews, T. Daniel;
    • Barnes, Chris;
    • Campbell, Peter;
    • Fitzgerald, Tomas;
    • Min Hu;
    • Chun Hwa Ihm;
    • Kristiansson, Kati;
    • MacArthur, Daniel G.;
    • MacDonald, Jeffrey R.;
    • Onyiah, Ifejinelo;
    • Wing Chun Pang, Andy;
    • Robson, Sam;
    • Stirrups, Kathy
    Publication type:
    Article

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

    Published in:
    Bioinformatics, 2011, v. 27, n. 22, p. 3200, doi. 10.1093/bioinformatics/btr554
    By:
    • Lindenbaum, Pierre;
    • Le Scouarnec, Solena;
    • Portero, Vincent;
    • Redon, Richard
    Publication type:
    Article

  • aCGH.Spline—an R package for aCGH dye bias normalization.

    Published in:
    Bioinformatics, 2011, v. 27, n. 9, p. 1195, doi. 10.1093/bioinformatics/btr107
    By:
    • Fitzgerald, Tomas W.;
    • Larcombe, Lee D.;
    • Le Scouarnec, Solena;
    • Clayton, Stephen;
    • Rajan, Diana;
    • Carter, Nigel P.;
    • Redon, Richard
    Publication type:
    Article

  • Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.

    Published in:
    Human Molecular Genetics, 2010, v. 19, n. 9, p. 1828, doi. 10.1093/hmg/ddq041
    By:
    • Prescott, Natalie J.;
    • Dominy, Katherine M.;
    • Kubo, Michiaki;
    • Lewis, Cathryn M.;
    • Fisher, Sheila A.;
    • Redon, Richard;
    • Huang, Ni;
    • Stranger, Barbara E.;
    • Blaszczyk, Katarzyna;
    • Hudspith, Barry;
    • Parkes, Gareth;
    • Hosono, Naoya;
    • Yamazaki, Keiko;
    • Onnie, Clive M.;
    • Forbes, Alastair;
    • Dermitzakis, Emmanouil T.;
    • Nakamura, Yusuke;
    • Mansfield, John C.;
    • Sanderson, Jeremy;
    • Hurles, Matthew E.
    Publication type:
    Article

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

    Published in:
    Nature Medicine, 2014, v. 20, n. 6, p. 577, doi. 10.1038/nm.3578
    By:
    • Cogné, Benjamin;
    • Snyder, Richard;
    • Lindenbaum, Pierre;
    • Dupont, Jean-Baptiste;
    • Redon, Richard;
    • Moullier, Philippe;
    • Leger, Adrien
    Publication type:
    Article

  • Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778
    By:
    • Isidor, ,13Bertrand;
    • Lindenbaum, Pierre;
    • Pichon, Olivier;
    • Bézieau, Stéphane;
    • Dina, Christian;
    • Jacquemont, Sébastien;
    • Martin-Coignard, Dominique;
    • Thauvin-Robinet, Christel;
    • Le Merrer, Martine;
    • Mandel, Jean-Louis;
    • David, Albert;
    • Faivre, Laurence;
    • Cormier-Daire, Valérie;
    • Redon, Richard;
    • Le Caignec, Cédric
    Publication type:
    Article

  • A robust statistical method for case-control association testing with copy number variation.

    Published in:
    Nature Genetics, 2008, v. 40, n. 10, p. 1245, doi. 10.1038/ng.206
    By:
    • Barnes, Chris;
    • Plagnol, Vincent;
    • Fitzgerald, Tomas;
    • Redon, Richard;
    • Marchini, Jonathan;
    • Clayton, David;
    • Hurles, Matthew E.
    Publication type:
    Article

  • Diet and the evolution of human amylase gene copy number variation.

    Published in:
    Nature Genetics, 2007, v. 39, n. 10, p. 1256, doi. 10.1038/ng2123
    By:
    • Perry, George H.;
    • Dominy, Nathaniel J.;
    • Claw, Katrina G.;
    • Lee, Arthur S.;
    • Fiegler, Heike;
    • Redon, Richard;
    • Werner, John;
    • Villanea, Fernando A.;
    • Mountain, Joanna L.;
    • Misra, Rajeev;
    • Carter, Nigel P.;
    • Lee, Charles;
    • Stone, Anne C.
    Publication type:
    Article

  • Genome assembly comparison identifies structural variants in the human genome.

    Published in:
    Nature Genetics, 2006, v. 38, n. 12, p. 1413, doi. 10.1038/ng1921
    By:
    • Khaja, Razi;
    • Zhang, Junjun;
    • MacDonald, Jeffrey R.;
    • Yongshu He;
    • Joseph-George, Ann M.;
    • Wei, John;
    • Rafiq, Muhammad A.;
    • Cheng Qian;
    • Shago, Mary;
    • Pantano, Lorena;
    • Aburatani, Hiroyuki;
    • Jones, Keith;
    • Redon, Richard;
    • Hurles, Matthew;
    • Armengol, Lluis;
    • Estivill, Xavier;
    • Mural, Richard J.;
    • Lee, Charles;
    • Scherer, Stephen W.;
    • Feuk, Lars
    Publication type:
    Article

  • High resolution CGH of head and neck tumours.

    Published in:
    1999
    By:
    • Redon, Richard;
    • Caulee, Krishna;
    • Abecassis, Joseph;
    • du Manoir, Stan
    Publication type:
    Abstract

  • Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37110-x
    By:
    • Odelin, Gaëlle;
    • Faucherre, Adèle;
    • Marchese, Damien;
    • Pinard, Amélie;
    • Jaouadi, Hager;
    • Le Scouarnec, Solena;
    • FranceGenRef Consortium;
    • Deleuze, Jean-François;
    • Génin, Emmanuelle;
    • Lindenbaum, Pierre;
    • Redon, Richard;
    • Schott, Jean-Jacques;
    • Chiarelli, Raphaël;
    • Achouri, Younes;
    • Faure, Emilie;
    • Herbane, Marine;
    • Théron, Alexis;
    • Avierinos, Jean-François;
    • Jopling, Chris;
    • Collod-Béroud, Gwenaëlle
    Publication type:
    Article

  • Genetic association analyses highlight biological pathways underlying mitral valve prolapse.

    Published in:
    Nature Genetics, 2015, v. 47, n. 10, p. 1206, doi. 10.1038/ng.3383
    By:
    • Dina, Christian;
    • Bouatia-Naji, Nabila;
    • Delling, Francesca N;
    • Perrocheau, Maelle;
    • Fernandez-Friera, Leticia;
    • Solis, Jorge;
    • Le Tourneau, Thierry;
    • Chen, Ming-Huei;
    • Probst, Vincent;
    • Lathrop, Mark;
    • Hercberg, Serge;
    • Roussel, Ronan;
    • Benjamin, Emelia J;
    • Bonnet, Fabrice;
    • Lecointe, Simon;
    • Kyndt, Florence;
    • Redon, Richard;
    • Le Marec, Hervé;
    • Froguel, Philippe;
    • Ellinor, Patrick T
    Publication type:
    Article

  • Infanticide vs. inherited cardiac arrhythmias.

    Published in:
    2021
    By:
    • Brohus, Malene;
    • Arsov, Todor;
    • Wallace, David A;
    • Jensen, Helene Halkjær;
    • Nyegaard, Mette;
    • Crotti, Lia;
    • Adamski, Marcin;
    • Zhang, Yafei;
    • Field, Matt A;
    • Athanasopoulos, Vicki;
    • Baró, Isabelle;
    • Oliveira-Mendes, Bárbara B Ribeiro de;
    • Redon, Richard;
    • Charpentier, Flavien;
    • Raju, Hariharan;
    • DiSilvestre, Deborah;
    • Wei, Jinhong;
    • Wang, Ruiwu;
    • Rafehi, Haloom;
    • Kaspi, Antony
    Publication type:
    journal article

  • Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome.

    Published in:
    2018
    By:
    • Etienne, Pauline;
    • Huchet, François;
    • Gaborit, Nathalie;
    • Barc, Julien;
    • Thollet, Aurélie;
    • Kyndt, Florence;
    • Guyomarch, Béatrice;
    • Marec, Hervé Le;
    • Charpentier, Flavien;
    • Schott, Jean-Jacques;
    • Le Marec, Hervé;
    • Redon, Richard;
    • Probst, Vincent;
    • Gourraud, Jean-Baptiste
    Publication type:
    journal article

  • Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?

    Published in:
    Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1370905
    By:
    • Vignard, Virginie;
    • Baruteau, Alban-Elouen;
    • Toutain, Bérénice;
    • Mercier, Sandra;
    • Isidor, Bertrand;
    • Redon, Richard;
    • Schott, Jean-Jacques;
    • Küry, Sébastien;
    • Bézieau, Stéphane;
    • Monsoro-Burq, Anne H.;
    • Ebstein, Frédéric
    Publication type:
    Article

  • Global variation in copy number in the human genome.

    Published in:
    Nature, 2006, v. 444, n. 7118, p. 444, doi. 10.1038/nature05329
    By:
    • Redon, Richard;
    • Ishikawa, Shumpei;
    • Fitch, Karen R.;
    • Feuk, Lars;
    • Perry, George H.;
    • Andrews, T. Daniel;
    • Fiegler, Heike;
    • Shapero, Michael H.;
    • Carson, Andrew R.;
    • Wenwei Chen;
    • Eun Kyung Cho;
    • Dallaire, Stephanie;
    • Freeman, Jennifer L.;
    • González, Juan R.;
    • Gratacòs, Mònica;
    • Jing Huang;
    • Kalaitzopoulos, Dimitrios;
    • Komura, Daisuke;
    • MacDonald, Jeffrey R.;
    • Marshall, Christian R.
    Publication type:
    Article

  • A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype.

    Published in:
    Clinical & Translational Medicine, 2021, v. 11, n. 6, p. 1, doi. 10.1002/ctm2.413
    By:
    • Al Sayed, Zeina R.;
    • Jouni, Mariam;
    • Gourraud, Jean‐Baptiste;
    • Belbachir, Nadjet;
    • Barc, Julien;
    • Girardeau, Aurore;
    • Forest, Virginie;
    • Derevier, Aude;
    • Gaignerie, Anne;
    • Chariau, Caroline;
    • Cimarosti, Bastien;
    • Canac, Robin;
    • Olchesqui, Pierre;
    • Charpentier, Eric;
    • Schott, Jean‐Jacques;
    • Redon, Richard;
    • Baró, Isabelle;
    • Probst, Vincent;
    • Charpentier, Flavien;
    • Loussouarn, Gildas
    Publication type:
    Article

  • The impact of a fine-scale population stratification on rare variant association test results.

    Published in:
    PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0207677
    By:
    • Persyn, Elodie;
    • Redon, Richard;
    • Bellanger, Lise;
    • Dina, Christian
    Publication type:
    Article

  • Pitfalls in the use of DGV for CNV interpretation.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2593, doi. 10.1002/ajmg.a.34195
    By:
    • Duclos, Aude;
    • Charbonnier, Françoise;
    • Chambon, Pascal;
    • Latouche, Jean-Baptiste;
    • Blavier, André;
    • Redon, Richard;
    • Frébourg, Thierry;
    • Flaman, Jean-Michel
    Publication type:
    Article

  • Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.

    Published in:
    Basic Research in Cardiology, 2014, v. 109, n. 6, p. 1, doi. 10.1007/s00395-014-0446-5
    By:
    • Béziau, Delphine M.;
    • Barc, Julien;
    • O’Hara, Thomas;
    • Le Gloan, Laurianne;
    • Amarouch, Mohamed Yassine;
    • Solnon, Aude;
    • Pavin, Dominique;
    • Lecointe, Simon;
    • Bouillet, Patricia;
    • Gourraud, Jean-Baptiste;
    • Guicheney, Pascale;
    • Denjoy, Isabelle;
    • Redon, Richard;
    • Mabo, Philippe;
    • le Marec, Hervé;
    • Loussouarn, Gildas;
    • Kyndt, Florence;
    • Schott, Jean-Jacques;
    • Probst, Vincent;
    • Baró, Isabelle
    Publication type:
    Article

  • A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878
    By:
    • Delvallée, Clarisse;
    • Nicaise, Samuel;
    • Antin, Manuela;
    • Leuvrey, Anne‐Sophie;
    • Nourisson, Elsa;
    • Leitch, Carmen C.;
    • Kellaris, Georgios;
    • Stoetzel, Corinne;
    • Geoffroy, Véronique;
    • Scheidecker, Sophie;
    • Keren, Boris;
    • Depienne, Christel;
    • Klar, Joakim;
    • Dahl, Niklas;
    • Deleuze, Jean‐François;
    • Génin, Emmanuelle;
    • Redon, Richard;
    • Demurger, Florence;
    • Devriendt, Koenraad;
    • Mathieu‐Dramard, Michèle
    Publication type:
    Article

  • WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8729, doi. 10.3390/ijms24108729
    By:
    • Karam, Adella;
    • Delvallée, Clarisse;
    • Estrada-Cuzcano, Alejandro;
    • Geoffroy, Véronique;
    • Lamouche, Jean-Baptiste;
    • Leuvrey, Anne-Sophie;
    • Nourisson, Elsa;
    • Tarabeux, Julien;
    • Stoetzel, Corinne;
    • Scheidecker, Sophie;
    • Porter, Louise Frances;
    • Génin, Emmanuelle;
    • Redon, Richard;
    • Sandron, Florian;
    • Boland, Anne;
    • Deleuze, Jean-François;
    • Le May, Nicolas;
    • Dollfus, Hélène;
    • Muller, Jean
    Publication type:
    Article