Scientific publications

Publications

• 2020

  • 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

  • Targeting the Human 80S Ribosome in Cancer: From Structure to Function and Drug Design for Innovative Adjuvant Therapeutic Strategies

    • Arnaud Gilles
    • Léo Frechin
    • Kundhavai Natchiar
    • Giulia Biondani
    • Ottilie Von Loeffelholz
    • Samuel Holvec
    • Julie-Lisa Malaval
    • Jean-Yves Winum
    • Bruno Klaholz
    • Jean-François Peyron

    Cells ; Volume: 9 ; Page: 629

    HAL DOI

  • De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

    • Ghayda M. Mirzaa
    • Jessica Chong
    • Amélie Piton
    • Bernt Popp
    • Kimberly Foss
    • Hui Guo
    • Ricardo Harripaul
    • Kun Xia
    • Joshua Scheck
    • Kimberly Aldinger
    • Samin Sajan
    • Sha Tang
    • Dominique Bonneau
    • Anita Beck
    • Janson J. White
    • Sonal Mahida
    • Jacqueline Harris
    • Constance Smith-Hicks
    • Juliane Hoyer
    • Christiane Zweier
    • ...

    Genetics in Medicine ; Volume: 22 ; Page: 538-546

    HAL DOI

  • Integration of metabolomic and transcriptomic profiles of hiPSCs-derived hepatocytes in a microfluidic environment

    • Mathieu Danoy
    • Stéphane Poulain
    • Rachid Jellali
    • Françoise Gilard
    • Sachi Kato
    • Charles Plessy
    • Taketomo Kido
    • Atsushi Miyajima
    • Yasuyuki Sakai
    • Eric Leclerc

    Biochemical Engineering Journal ; Volume: 155 ; Page: 107490

    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

  • Dysregulation of LXR responsive genes contribute to ichthyosis in trichothiodystrophy

    • Satoru Hashimoto
    • Hiroki Takanari
    • Emmanuel Compe
    • Jean-Marc Egly

    Journal of Dermatological Science ; Volume: 97 ; Page: 201-207

    HAL DOI

  • The mouse HP1 proteins are essential for preventing liver tumorigenesis

    • Nehmé Saksouk
    • Shefqet Hajdari
    • Marine Pratlong
    • Célia Barrachina
    • Céline Graber
    • Damien Gregoire
    • Aliki Zavoriti
    • Amélie Sarrazin
    • Nelly Pirot
    • Jean-Yohan Noël
    • Lakhdar Khellaf
    • Eric Fabbrizio
    • Eric Julien
    • Florence Cammas

    Oncogene ; Volume: 39 ; Page: 2676-2691

    HAL DOI