Scientific publications

Publications

• 2020

  • De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

    • Francesca Mattioli
    • Gaelle Hayot
    • Nathalie Drouot
    • Bertrand Isidor
    • Jérémie Courraud
    • Maria-Victoria Hinckelmann
    • Frederic Tran Mau-Them
    • Chantal Sellier
    • Alica Goldman
    • Aida Telegrafi
    • Alicia Boughton
    • Candace Gamble
    • Sebastien Moutton
    • Angélique Quartier
    • Nolwenn Jean
    • Paul van Ness
    • Sarah Grotto
    • Sophie Nambot
    • Ganka Douglas
    • Yue Cindy Si
    • ...

    American Journal of Human Genetics ; Volume: 106 ; Page: 438-452

    HAL DOI

  • Dynamics of uS19 C-Terminal Tail during the Translation Elongation Cycle in Human Ribosomes

    • Varun Bhaskar
    • Alexandra Graff-Meyer
    • Andreas Schenk
    • Simone Cavadini
    • Ottilie von Loeffelholz
    • S. Kundhavai Natchiar
    • Caroline Artus-Revel
    • Hans-Rudolf Hotz
    • Gabriel Bretones
    • Bruno Klaholz
    • Jeffrey Chao

    Cell Reports ; Volume: 31 ; Page: 107473

    HAL DOI

  • Ethical issues in expanding preconception genetic carrier screening: French debate and the opinion of the French Society of Predictive and Personalized Medicine, Réflexions éthiques sur le dépistage génétique préconceptionnel en population générale : le débat français et l’avis de la Société Française de Médecine Prédictive et Personnalisée

    • P. Pujol
    • S. Fodil-Chérif
    • J.L. Mandel
    • Bernard Baertschi
    • D. Sanlaville
    • D. Zarca
    • A. Toledano
    • P. Bloch
    • D. Geneviève

    Ethics, Medicine and Public Health ; Volume: 12 ; Page: 100439

    HAL DOI

  • Targeting clinical epigenetic reprogramming for chemoprevention of metabolic and viral hepatocellular carcinoma.

    • Frank Jülhing
    • Nourdine Hamdane
    • Emilie Crouchet
    • Shen Li
    • Houssein El Saghire
    • Atish Mukherji
    • Naoto Fujiwara
    • Marine A. Oudot
    • Christine Thumann
    • Antonio Saviano
    • Armando Andres Roca Suarez
    • Kaku Goto
    • Ricard Masia
    • Mozhdeh Sojoodi
    • Gunisha Arora
    • Hiroshi Aikata
    • Atsushi Ono
    • Parissa Tabrizian
    • Myron Schwartz
    • Stephen J Polyak
    • ...

    Gut

    HAL DOI

  • Modifications induced by chemical skin allergens on the metabolome of reconstructed human epidermis: A pilot high‐resolution magic angle spinning nuclear magnetic resonance study

    • Francois-Marie Moussallieh
    • Éric Moss
    • Karim El Bayed
    • Guillaume Lereaux
    • Fleur Tourneix
    • Jean-Pierre Lepoittevin

    Contact Dermatitis ; Volume: 82 ; Page: 137-146

    HAL DOI

  • Label-free super-resolution microsphere-assisted microscopy of biological samples

    • Sylvain Lecler
    • Stéphane Perrin
    • Giorgio Quaranta
    • Nadia Messaddeq
    • Nicolas Lemercier
    • Jean‐luc Vonesch
    • Paul Montgomery

    HAL DOI

  • Impact of Chromosome Fusions on 3D Genome Organization and Gene Expression in Budding Yeast

    • Marco Di Stefano
    • Francesca Di Giovanni
    • Vasilisa Pozharskaia
    • Mercè Gomar-Alba
    • Davide Baù
    • Lucas Carey
    • Marc Marti-Renom
    • Manuel Mendoza

    Genetics ; Volume: 214 ; Page: 651-667

    HAL DOI

  • Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny

    • Johan G Gilet
    • Ekaterina Ivanova
    • Daria Trofimova
    • Gabrielle Rudolf
    • Hamid Meziane
    • Loic Broix
    • Nathalie Drouot
    • Jeremie Courraud
    • Valerie Skory
    • Paul Voulleminot
    • Maria Osipenko
    • Nadia Bahi-Buisson
    • Binnaz Yalcin
    • Marie-Christine Birling
    • Maria-Victoria Hinckelmann
    • Benjamin H Kwok
    • John S Allingham
    • Jamel Chelly

    Human Molecular Genetics ; Volume: 29 ; Page: 766-784

    HAL DOI

  • Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits

    • Alexandros Kanellopoulos
    • Vittoria Mariano
    • Marco Spinazzi
    • Young Jae Woo
    • Colin Mclean
    • Ulrike Pech
    • Ka Wan Li
    • J. Douglas Armstrong
    • Angela Giangrande
    • Patrick Callaerts
    • August Smit
    • Brett Abrahams
    • Andre Fiala
    • Tilmann Achsel
    • Claudia Bagni

    Cell ; Volume: 180 ; Page: 1178-1197.e20

    HAL DOI

  • Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

    • Ash Zawerton
    • Cyril Mignot
    • Ashley Sigafoos
    • Patrick Blackburn
    • Abdul Haseeb
    • Kirsty Mcwalter
    • Shoji Ichikawa
    • Caroline Nava
    • Boris Keren
    • Perrine Charles
    • Isabelle Marey
    • Anne-Claude Tabet
    • Jonathan Levy
    • Laurence Perrin
    • Andreas Hartmann
    • Gaetan Lesca
    • Caroline Schluth-Bolard
    • Pauline Monin
    • Sophie Dupuis-Girod
    • Maria Guillen Sacoto
    • ...

    Genetics in Medicine ; Volume: 22 ; Page: 524-537

    HAL DOI