Publications by authors named "Thomas Simonet"

19Publications

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

Authors:
Hui Liu Anna-Gaëlle Giguet-Valard Thomas Simonet Emmanuelle Szenker-Ravi Laetitia Lambert Catherine Vincent-Delorme Sophie Scheidecker Mélanie Fradin Fanny Morice-Picard Sophie Naudion Viorica Ciorna-Monferrato Estelle Colin Florence Fellmann Sophie Blesson Pierre-Simon Jouk Christine Francannet Florence Petit Sébastien Moutton Daphné Lehalle Nicolas Chassaing Loubna El Zein Anne Bazin Claire Bénéteau Tania Attié-Bitach Sylvie M Hanu Marie-Pierre Brechard Jean Chiesa Laurent Pasquier Caroline Rooryck-Thambo Lionel Van Maldergem Christelle Cabrol Salima El Chehadeh Alexandre Vasiljevic Bertrand Isidor Carine Abel Julien Thevenon Sylvie Di Filippo Adeline Vigouroux-Castera Jocelyne Attia Chloé Quelin Sylvie Odent Juliette Piard Fabienne Giuliano Audrey Putoux Philippe Khau Van Kien Catherine Yardin Renaud Touraine Bruno Reversade Patrice Bouvagnet

Hum Mutat 2020 Dec 10;41(12):2167-2178. Epub 2020 Nov 10.

Centre de Diagnostic Prénatal, Hôpital MFME, Fort de France, Martinique, France.

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December 2020

Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.

Authors:
Oriane Marmontel Pierre Antoine Rollat-Farnier Anne-Sophie Wozny Sybil Charrière Xavier Vanhoye Thomas Simonet Nicolas Chatron Delphine Collin-Chavagnac Séverine Nony Sabrina Dumont Muriel Mahl Chantal Jacobs Alexandre Janin Cyrielle Caussy Pierre Poinsot Igor Tauveron Claire Bardel Gilles Millat Noël Peretti Philippe Moulin Christophe Marçais Mathilde Di Filippo

Clin Genet 2020 Dec 4;98(6):589-594. Epub 2020 Sep 4.

Service de Biochimie et Biologie moléculaire Grand Est, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon, Bron Cedex, France.

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December 2020

Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia.

Authors:
Marine Serveaux Dancer Oriane Marmontel Anne-Sophie Wozny Christophe Marcais Muriel Mahl Sabrina Dumont Thomas Simonet Philippe Moulin Mathilde Di Filippo Sybil Charrière

J Clin Lipidol 2020 Nov - Dec;14(6):756-761. Epub 2020 Sep 18.

INSERM U1060, Laboratoire Carmen, Université Lyon 1, INRA U1235, INSA de Lyon, CENS, Centre de Recherche en Nutrition Humaine Rhône Alpes, Oullins Cedex, France; Hospices Civils de Lyon, Hôpital Louis Pradel, Fédération d'endocrinologie, Maladies Métaboliques, Diabète et Nutrition, Bron Cedex, France. Electronic address:

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September 2020

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

Authors:
Gabrielle Rudolf Julitta de Bellescize Anne de Saint Martin Alexis Arzimanoglou Maria Paola Valenti Hirsch Audrey Labalme Clotilde Boulay Thomas Simonet Anne Boland Jean François Deleuze Patrick Nitschké Emmanuelle Ollivier Damien Sanlaville Edouard Hirsch Jamel Chelly Gaetan Lesca

Eur J Paediatr Neurol 2020 Jul 29;27:104-110. Epub 2020 May 29.

Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon, Lyon, France; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Lyon, France; Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

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July 2020

H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles.

Authors:
Edwige Belotti Nicolas Lacoste Thomas Simonet Christophe Papin Kiran Padmanabhan Isabella Scionti Yann-Gaël Gangloff Lorrie Ramos Defne Dalkara Ali Hamiche Stefan Dimitrov Laurent Schaeffer

Nucleic Acids Res 2020 05;48(9):4601-4613

Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Université de Lyon, INSERM U1217, CNRS UMR5310, 8 avenue Rockefeller, 69008 Lyon, France.

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May 2020

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Authors:
Nicolas Chatron Kevin Cassinari Olivier Quenez Stéphanie Baert-Desurmont Claire Bardel Marie-Pierre Buisine Eduardo Calpena Yline Capri Jordi Corominas Galbany Flavie Diguet Patrick Edery Bertrand Isidor Audrey Labalme Cedric Le Caignec Jonathan Lévy François Lecoquierre Pierre Lindenbaum Olivier Pichon Pierre-Antoine Rollat-Farnier Thomas Simonet Pascale Saugier-Veber Anne-Claude Tabet Annick Toutain Andrew O M Wilkie Gaetan Lesca Damien Sanlaville Gaël Nicolas Caroline Schluth-Bolard

Hum Mutat 2019 11 12;40(11):1993-2000. Epub 2019 Jul 12.

Genetics Department, Hospices Civils de Lyon, Lyon, France.

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November 2019

Validation of the prognostic value of the knowledge bank approach to determine AML prognosis in real life.

Authors:
Sarah Huet Etienne Paubelle Camille Lours Beatrice Grange Lucien Courtois Kaddour Chabane Carole Charlot Isabelle Mosnier Thomas Simonet Sandrine Hayette Isabelle Tigaud Xavier Thomas Gilles Salles Fabien Subtil Pierre Sujobert

Blood 2018 08 4;132(8):865-867. Epub 2018 Jun 4.

Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Laboratoire d'Hématologie, Pierre-Benite, France.

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August 2018

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

Authors:
Nicolas Chatron Rikke S Møller Neena L Champaigne Amy L Schneider Alma Kuechler Audrey Labalme Thomas Simonet Lauren Baggett Claire Bardel Erik-Jan Kamsteeg Rolph Pfundt Corrado Romano Johan Aronsson Antonino Alberti Mirella Vinci Maria J Miranda Amy Lacroix Dragan Marjanovic Vincent des Portes Patrick Edery Dagmar Wieczorek Elena Gardella Ingrid E Scheffer Heather Mefford Damien Sanlaville Gemma L Carvill Gaetan Lesca

Ann Neurol 2018 05 30;83(5):926-934. Epub 2018 Apr 30.

Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, GHE, Lyon, France.

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May 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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November 2017

LSD1 Controls Timely MyoD Expression via MyoD Core Enhancer Transcription.

Authors:
Isabella Scionti Shinichiro Hayashi Sandrine Mouradian Emmanuelle Girard Joana Esteves de Lima Véronique Morel Thomas Simonet Maud Wurmser Pascal Maire Katia Ancelin Eric Metzger Roland Schüle Evelyne Goillot Frederic Relaix Laurent Schaeffer

Cell Rep 2017 02;18(8):1996-2006

Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Lyon1, 46 Allée d'Italie, 69007 Lyon, France; Laboratory of Molecular Biology of the Cell, CNRS UMR5239, Université Lyon 1, ENS Lyon, 46 Allée d'Italie, 69007 Lyon, France; Hospices Civils de Lyon, Faculté de Medicine Lyon Est, 3 Quai des Célestins, 69002 Lyon, France. Electronic address:

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February 2017

Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.

Authors:
Sarra Dimassi Thomas Simonet Audrey Labalme Nadia Boutry-Kryza Amandine Campan-Fournier Raphaelle Lamy Claire Bardel Mad-Hélénie Elsensohn Florence Roucher-Boulez Nicolas Chatron Audrey Putoux Julitta de Bellescize Dorothée Ville Laurent Schaeffer Pascal Roy Soumaya Mougou-Zerelli Ali Saad Alain Calender Damien Sanlaville Gaetan Lesca

Appl Transl Genom 2015 Dec 17;7:19-25. Epub 2015 Oct 17.

Department of Medical Genetics, Lyon University Hospital, Lyon, France; CNRL, CNRS UMR 5292, INSERM U1028, Lyon, France; Claude Bernard Lyon I University, Lyon, France.

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December 2015

Histone deacetylase 6 is a FoxO transcription factor-dependent effector in skeletal muscle atrophy.

Authors:
Francesca Ratti Francis Ramond Vincent Moncollin Thomas Simonet Giulia Milan Alexandre Méjat Jean-Luc Thomas Nathalie Streichenberger Benoit Gilquin Patrick Matthias Saadi Khochbin Marco Sandri Laurent Schaeffer

J Biol Chem 2015 Feb 15;290(7):4215-24. Epub 2014 Dec 15.

From the Ecole Normale Supérieure de Lyon; CNRS UMR 5239; Equipe Différenciation Neuromusculaire, Université de Lyon, 46 allée d'Italie 69364 Lyon cedex 07, France, Université Lyon 1; Hospices civils de Lyon,

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February 2015

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

Authors:
Gaëlle Bruneteau Thomas Simonet Stéphanie Bauché Nathalie Mandjee Edoardo Malfatti Emmanuelle Girard Marie-Laure Tanguy Anthony Behin Frédéric Khiami Elhadi Sariali Caroline Hell-Remy François Salachas Pierre-François Pradat Emmanuel Fournier Lucette Lacomblez Jeanine Koenig Norma Beatriz Romero Bertrand Fontaine Vincent Meininger Laurent Schaeffer Daniel Hantaï

Brain 2013 Aug 3;136(Pt 8):2359-68. Epub 2013 Jul 3.

APHP, Hôpital Pitié-Salpêtrière, Département de Neurologie, Centre référent SLA, Paris Cedex 13, France.

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August 2013

TRF2 inhibits a cell-extrinsic pathway through which natural killer cells eliminate cancer cells.

Authors:
Annamaria Biroccio Julien Cherfils-Vicini Adeline Augereau Sébastien Pinte Serge Bauwens Jing Ye Thomas Simonet Béatrice Horard Karine Jamet Ludovic Cervera Aaron Mendez-Bermudez Delphine Poncet Renée Grataroli Claire T'kint de Rodenbeeke Erica Salvati Angela Rizzo Pasquale Zizza Michelle Ricoul Céline Cognet Thomas Kuilman Helene Duret Florian Lépinasse Jacqueline Marvel Els Verhoeyen François-Loïc Cosset Daniel Peeper Mark J Smyth Arturo Londoño-Vallejo Laure Sabatier Vincent Picco Gilles Pages Jean-Yves Scoazec Antonella Stoppacciaro Carlo Leonetti Eric Vivier Eric Gilson

Nat Cell Biol 2013 Jul 23;15(7):818-28. Epub 2013 Jun 23.

Laboratory of Molecular Biology of the Cell, CNRS UMR5239, IFR128, Ecole Normale Supérieure de Lyon, Lyon 69364, France.

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July 2013

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway.

Authors:
Irmina Diala Nicole Wagner Frédérique Magdinier Marina Shkreli Maria Sirakov Serge Bauwens Caroline Schluth-Bolard Thomas Simonet Valérie M Renault Jing Ye Abdelnnadir Djerbi Pascal Pineau Jinkuk Choi Steven Artandi Anne Dejean Michelina Plateroti Eric Gilson

EMBO Rep 2013 Apr 22;14(4):356-63. Epub 2013 Feb 22.

Faculté de Médecine de Nice, Institut for Research on Cancer and Aging, Nice (IRCAN), Nice University, Nice, France.

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April 2013

Caenorhabditis elegans chromatin-associated proteins SET-2 and ASH-2 are differentially required for histone H3 Lys 4 methylation in embryos and adult germ cells.

Authors:
Yu Xiao Cécile Bedet Valérie J P Robert Thomas Simonet Steve Dunkelbarger Cédric Rakotomalala Gwen Soete Hendrik C Korswagen Susan Strome Francesca Palladino

Proc Natl Acad Sci U S A 2011 May 28;108(20):8305-10. Epub 2011 Apr 28.

Laboratory of Molecular and Cellular Biology, UMR5239 CNRS, Ecole Normale Supérieure de Lyon, 69007 Lyon, France.

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May 2011

The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats.

Authors:
Thomas Simonet Laure-Emmanuelle Zaragosi Claude Philippe Kevin Lebrigand Clémentine Schouteden Adeline Augereau Serge Bauwens Jing Ye Marco Santagostino Elena Giulotto Frederique Magdinier Béatrice Horard Pascal Barbry Rainer Waldmann Eric Gilson

Cell Res 2011 Jul 22;21(7):1028-38. Epub 2011 Mar 22.

Laboratoire de Biologie Moléculaire de la Cellule-UMR 5239 CNRS/ENS Lyon/ Université Lyon, Ecole Normale Supérieure de Lyon, 46 allée d'Italie, Lyon 69364, France.

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July 2011

Telomeric damage in early stage of chronic lymphocytic leukemia correlates with shelterin dysregulation.

Authors:
Adeline Augereau Claire T'kint de Roodenbeke Thomas Simonet Serge Bauwens Béatrice Horard Mary Callanan Dominique Leroux Laurent Jallades Gilles Salles Eric Gilson Delphine Poncet

Blood 2011 Aug 25;118(5):1316-22. Epub 2011 Feb 25.

Epigenetic and Telomeric Regulations, Lyon Sud Medicine Faculty, Lyon-1 University, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche (UMR) 5239, Pierre Bénite, France.

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August 2011

Unique and redundant functions of C. elegans HP1 proteins in post-embryonic development.

Authors:
Sonia Schott Vincent Coustham Thomas Simonet Cecile Bedet Francesca Palladino

Dev Biol 2006 Oct 28;298(1):176-87. Epub 2006 Jun 28.

Laboratoire de Biologie Moleculaire de la Cellule, Ecole Normale Supérieure de Lyon, CNRS UMR5161, IFR128, Lyon, France.

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October 2006