Publications by authors named "Thomas Simonet"

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Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.
Laurie Surles, Alexandre Janin, Corentin Molitor, Nicolas Chatron, Myriam Moret, Thomas Simonet

Clin Genet· March 2025

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H2A.Z is involved in premature aging and DSB repair initiation in muscle fibers.
Edwige Belotti, Nicolas Lacoste, Arslan Iftikhar, Thomas Simonet, Christophe Papin

Nucleic Acids Res· April 2024

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LSD1 controls a nuclear checkpoint in Wnt/β-Catenin signaling to regulate muscle stem cell self-renewal.
Sandrine Mouradian, Delia Cicciarello, Nicolas Lacoste, Valérie Risson, Francesca Berretta, Thomas Simonet

Nucleic Acids Res· April 2024

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Real life evaluation of AlphaMissense predictions in hematological malignancies.
Kaddour Chabane, Carole Charlot, Dan Gugenheim, Thomas Simonet, David Armisen

Leukemia· February 2024

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Spatial Transcriptomics Reveals Signatures of Histopathological Changes in Muscular Sarcoidosis.
Hippolyte Lequain, Cyril Dégletagne, Nathalie Streichenberger, Julie Valantin, Thomas Simonet

Cells· November 2023

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Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Thomas Simonet

Brain· August 2023

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Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus.
Constance Kleijwegt, Florent Bressac, Coline Seurre, Wilhelm Bouchereau, Camille Cohen, Thomas Simonet

Elife· May 2023

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Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Arnaud Jacquier, Valérie Risson, Thomas Simonet, Florine Roussange, Nicolas Lacoste

Acta Neuropathol· October 2022

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Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia.
Marine Serveaux Dancer, Oriane Marmontel, Anne-Sophie Wozny, Christophe Marcais, Muriel Mahl, Thomas Simonet

J Clin Lipidol· August 2021

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Dynamic persistence of UPEC intracellular bacterial communities in a human bladder-chip model of urinary tract infection.
Kunal Sharma, Neeraj Dhar, Vivek V Thacker, Thomas M Simonet, Francois Signorino-Gelo

Elife· July 2021

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Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies.
Sandrine Hayette, Béatrice Grange, Maxime Vallee, Claire Bardel, Sarah Huet, Thomas Simonet

Hemasphere· February 2021

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Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Oriane Marmontel, Pierre Antoine Rollat-Farnier, Anne-Sophie Wozny, Sybil Charrière, Xavier Vanhoye, Thomas Simonet

Clin Genet· December 2020

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Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, Emmanuelle Szenker-Ravi, Laetitia Lambert

Hum Mutat· December 2020

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Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.
Gabrielle Rudolf, Julitta de Bellescize, Anne de Saint Martin, Alexis Arzimanoglou, Maria Paola Valenti Hirsch, Thomas Simonet

Eur J Paediatr Neurol· July 2020

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H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles.
Edwige Belotti, Nicolas Lacoste, Thomas Simonet, Christophe Papin, Kiran Padmanabhan

Nucleic Acids Res· May 2020

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Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
Alexandre Belot, Gillian I Rice, Sulliman Ommar Omarjee, Quentin Rouchon, Eve M D Smith, Thomas Simonet

Lancet Rheumatol· February 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, Thomas Simonet

Hum Mutat· November 2019

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Validation of the prognostic value of the knowledge bank approach to determine AML prognosis in real life.
Sarah Huet, Etienne Paubelle, Camille Lours, Beatrice Grange, Lucien Courtois, Thomas Simonet

Blood· August 2018

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The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Nicolas Chatron, Rikke S Møller, Neena L Champaigne, Amy L Schneider, Alma Kuechler, Thomas Simonet

Ann Neurol· May 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, Thomas Simonet

Am J Hum Genet· November 2017

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LSD1 Controls Timely MyoD Expression via MyoD Core Enhancer Transcription.
Isabella Scionti, Shinichiro Hayashi, Sandrine Mouradian, Emmanuelle Girard, Joana Esteves de Lima, Thomas Simonet

Cell Rep· February 2017

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Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.
Sarra Dimassi, Thomas Simonet, Audrey Labalme, Nadia Boutry-Kryza, Amandine Campan-Fournier

Appl Transl Genom· December 2015

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Histone deacetylase 6 is a FoxO transcription factor-dependent effector in skeletal muscle atrophy.
Francesca Ratti, Francis Ramond, Vincent Moncollin, Thomas Simonet, Giulia Milan

J Biol Chem· February 2015

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Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.
Gaëlle Bruneteau, Thomas Simonet, Stéphanie Bauché, Nathalie Mandjee, Edoardo Malfatti

Brain· August 2013

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TRF2 inhibits a cell-extrinsic pathway through which natural killer cells eliminate cancer cells.
Annamaria Biroccio, Julien Cherfils-Vicini, Adeline Augereau, Sébastien Pinte, Serge Bauwens, Thomas Simonet

Nat Cell Biol· July 2013

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