Scientific publications

Publications

• 2025

  • Article in a journal

    Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant

    • Marianne Victoria Lemée
    • Maria Nicla Loviglio
    • Tao Ye
    • Peggy Tilly
    • Céline Keime
    • Chantal Weber
    • Anastasiya Petrova
    • Pernelle Klein
    • Bastien Morlet
    • Olivia Wendling
    • Hugues Jacobs
    • Mylène Tharreau
    • David Geneviève
    • Juliette Godin
    • Christophe Romier
    • Delphine Duteil
    • Christelle Golzio

    Nucleic Acids Research ; Volume: 53

    HALDOI

  • Article in a journal

    Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy

    • Foteini Moschovaki-Filippidou
    • Christine Kretz
    • David Reiss
    • Gaëtan Chicanne
    • Bernard Payrastre
    • Jocelyn Laporte

    JCI Insight ; Volume: 10

    HALDOI

  • Article in a journal

    Senataxin promotes recombination fidelity during antigen receptor gene diversification

    • Alice Billie Libri
    • Jinglong Wang
    • Timea Marton
    • Wei Yu
    • François Dossin
    • Gabriel Balmus
    • Bernardo Reina San Martin
    • Richard Frock
    • Chloé Lescale
    • Ludovic Deriano

    Science Signaling ; Volume: 18

    HALDOI

  • Pre-publication, Working Document

    Optimization of adhesion for high throughput cryo-electron tomography of vitreous sections

    • Fatima Taiki
    • Helmut Gnaegi
    • Mikhail Eltsov
    • Amélie Leforestier

    HALDOI

  • Article in a journal

    Rescaling FSC curves

    • Alexandre G Urzhumtsev

    Acta crystallographica Section D : Structural biology [1993-...] ; Volume: 81 ; Page: 621 - 629

    HALDOI

  • Pre-publication, Working Document

    EXPLICIT CORRECTION OF SEVERELY NON-UNIFORM DISTRIBUTIONS OF CRYO-EM VIEWS

    • Charles Barchet
    • Ottilie von Loeffelholz
    • Roberto Bahena-Ceron
    • Bruno Klaholz
    • Alexandre Urzhumtsev

    HALDOI

  • Article in a journal

    Enhanced proteasome activity in perifascicular myofibres is a hallmark of dermatomyositis and its inhibition is efficient in preclinical models

    • Léa Debrut
    • Margherita Giannini
    • Giulia Quiring
    • Simone Perniola
    • Daniela Rovito
    • Céline Keime
    • Béatrice Lannes
    • Aleksandra Nadaj-Pakleza
    • Jean-Baptiste Chanson
    • Anne-Laure Charles
    • Bernard Gény
    • Daniel Metzger
    • Gilles Laverny
    • Alain Meyer

    Annals of the Rheumatic Diseases

    HALDOI

  • Pre-publication, Working Document  » Preprint/Prepublication

    Hippocampal multi-layered RNAseq prioritizes oligodendrocyte dysfunction over immune–driven neuroinflammation in neurolupus pathogenesis

    • Karim Matmat
    • Christian Klein
    • Celine Keime
    • Ayikoe-Guy Mensah-Nyagan
    • Helene Jeltsch-David

    HALDOI

  • Article in a journal

    Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study

    • Salima El Chehadeh
    • Solveig Heide
    • Chloé Quélin
    • Marlène Rio
    • Henri Margot
    • David Geneviève
    • Bertrand Isidor
    • Alice Goldenberg
    • Caroline Guégan
    • Gaëtan Lesca
    • Marjolaine Willems
    • Clothilde Ormières
    • Roseline Caumes
    • Tiffany Busa
    • Dominique Bonneau
    • Anne-Marie Guerrot
    • Isabelle Marey
    • Gabriella Vera
    • Pauline Marzin
    • Anaïs Philippe
    • ...

    Genome Medicine ; Volume: 17 ; Page: 110

    HALDOI

  • Article in a journal

    Template Learning: deep learning with domain randomization for particle picking in cryo-electron tomography

    • Mohamad Harastani
    • Gurudatt Patra
    • Charles Kervrann
    • Mikhail Eltsov

    Nature Communications ; Volume: 16 ; Page: 1-15

    HALDOI