Scientific publications

Publications

• 2018

  • Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

    • Laura Mary
    • Amélie Piton
    • Elise Schaefer
    • Francesca Mattioli
    • Elsa Nourisson
    • Claire Feger
    • Claire Redin
    • Magali Barth
    • Salima El Chehadeh
    • Estelle Colin
    • Christine Coubes
    • Laurence Faivre
    • Elisabeth Flori
    • David Geneviève
    • Yline Capri
    • Laurence Perrin
    • Jennifer Fabre-Teste
    • Dana Timbolschi
    • Alain Verloes
    • Robert Olaso
    • ...

    European Journal of Human Genetics ; Volume: 26 ; Page: 996 - 1006

    HAL DOI

  • Le facteur de réparation XPC est un cofacteur de l'ARN polymérase II régulant les modifications post-traductionnelles des histones lors de la transcription, The DNA repair factor XPC is a Pol II cofactor regulating the histone PTMs during transcription

    • Maryssa Semer

    HAL

  • Analyse de la composition et de la fonction de la machinerie basale de transcription au cours du développement et de la différenciation, Analysis of the composition and the function of the basal transcription machinery during development and differentiation

    • Paul Louis Bernard Bardot

    HAL

  • Identification of novel genetic causes of monogenic intellectual disability, Identification de causes génétiques impliquées dans la déficience intellectuelle et l'autisme

    • Francesca Mattioli

    HAL

  • Analysis of shared heritability in common disorders of the brain

    • Verneri Anttila
    • Brenda Sullivan
    • Hilary Finucane
    • Walter Walters
    • Jose Bras
    • Laramie Duncan
    • Valentina Price
    • Guido Falcone
    • Padhraig Gormley
    • Rainer Malik
    • Pat Patsopoulos
    • Stephan Ripke
    • Wei Wei
    • Dongmei Yu
    • Phil L Lee
    • Patrick Turley
    • Benjamin Grenier-Boley
    • Vincent Chouraki
    • Yoichiro Kamatani
    • Claudine Berr
    • ...

    Science ; Volume: 360 ; Page: eaap8757

    HAL DOI

  • Analytical validation of two second generation thyroglobulin immunoassays (Roche and Thermo Fisher)

    • François-Marie Moussallieh
    • Miora Koloina Ranaivosoa
    • Sarah Romain
    • Nathalie Reix

    Clinical Chemistry and Laboratory Medicine ; Volume: 56

    HAL DOI

  • Thymoquinone challenges UHRF1 to commit auto-ubiquitination: a key event for apoptosis induction in cancer cells

    • Abdulkhaleg Ibrahim
    • Mahmoud Alhosin
    • Christophe Papin
    • Khalid Ouararhni
    • Ziad Omran
    • Mazin A. Zamzami
    • Abdulrahman Labeed Al-Malki
    • Hani Choudhry
    • Yves Mély
    • Ali Hamiche
    • Marc Mousli
    • Christian Bronner

    Oncotarget ; Volume: 9 ; Page: 28599-28611

    HAL DOI

  • Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription

    • Farrah El-Saafin
    • Cynthia Curry
    • Tao Ye
    • Jean-Marie Garnier
    • Isabelle Kolb-Cheynel
    • Matthieu Stierlé
    • Natalie Downer
    • Mathew Dixon
    • Luc Négroni
    • Imre Berger
    • Tim Thomas
    • Anne Voss
    • William Dobyns
    • Didier Devys
    • Laszlo Tora

    Human Molecular Genetics ; Volume: 27 ; Page: 2171-2186

    HAL DOI

  • Serotonin 2B receptor potentiates erythropoietin-induced mobilization of endothelial progenitor cells: contribution to hypoxic pulmonary arterial hypertension?

    • Estelle Ayme-Dietrich
    • Jerome Becker
    • Ghina Bou About
    • Luc Maroteaux
    • Lahcen El Fertak
    • M Denu
    • P Reilly
    • E Peter-Thiebaut
    • Yann Hérault
    • H Jacobs
    • Laurent Monassier

    HAL

  • PTEN deletion in luminal cells of mature prostate induces replication stress and senescence in vivo

    • Maxime Parisotto
    • Elise Grelet
    • Rana El Bizri
    • Yongyuan Dai
    • Julie Terzic
    • Doriane Eckert
    • Laetitia Gargowitsch
    • Jean-Marc Bornert
    • Daniel Metzger

    Journal of Experimental Medicine ; Volume: 215 ; Page: 1749-1763

    HAL DOI