Scientific publications

Publications

• 2017

  • Homozygous truncating variants in TBC1D23 cause pontocerebellar hypoplasia and alter cortical development

    • Ekaterina Ivanova
    • F Mau-Them
    • Saima Riazuddin
    • Kimia Kahrizi
    • Vincent Laugel
    • Elise Schaefer
    • A de Saint Martin
    • Karen Runge
    • Zafar Iqbal
    • Marie-Aude Spitz
    • Mary Laura
    • Nathalie Drouot
    • Bénédicte Gerard
    • Jean-François Deleuze
    • Arjan de Brouwer
    • Attia Razzaq
    • Helene Dollfus
    • Muhammad Assir
    • Patrick Nitchké
    • Maria-Victoria Hinckelmann Rivas
    • ...

    American Journal of Human Genetics ; Volume: 101 ; Page: 428-440

    HAL DOI

  • Fragile X syndrome

    • Randi Hagerman
    • Elizabeth Berry-Kravis
    • Heather Hazlett
    • Donald Bailey
    • Herve Moine
    • R Kooy
    • Flora Tassone
    • Ilse Gantois
    • Nahum Sonenberg
    • Jean-Louis Mandel
    • Paul Hagerman

    Nature reviews Disease primers ; Volume: 3

    HAL DOI

  • LINE-1 activation after fertilization regulates global chromatin accessibility in the early mouse embryo

    • Joanna Jachowicz
    • Xinyang Bing
    • Julien Pontabry
    • Ana Bošković
    • Oliver j. Rando
    • Maria-Elena Torres-Padilla

    Nature Genetics ; Volume: 49 ; Page: 1502--1510

    HAL DOI

  • Epimetheus - a multi-profile normalizer for epigenomic sequencing data

    • Mohamed Ashick Mohamed Saleem
    • Marco Antonio Mendoza Parra
    • Pierre Cholley
    • Matthias Blum
    • Hinrich Gronemeyer

    BMC Bioinformatics ; Volume: 18

    HAL DOI

  • GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    • Konrad Platzer
    • Hongjie Yuan
    • Hannah Schutz
    • Alexander Winschel
    • Wenjuan Chen
    • Chun Hu
    • Hirofumi Kusumoto
    • Henrike Heyne
    • Katherine Helbig
    • Sha Tang
    • Marcia Willing
    • Brad Tinkle
    • Darius Adams
    • Christel Depienne
    • Boris Keren
    • Cyril Mignot
    • Eirik Frengen
    • Petter Strømme
    • Saskia Biskup
    • Dennis Döcker
    • ...

    Journal of Medical Genetics ; Volume: 54 ; Page: 460-470

    HAL DOI

  • WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

    • Mara Cavallin
    • Maria A Rujano
    • Nathalie Bednarek
    • Daniel Medina-Cano
    • Antoinette Bernabe Gelot
    • Séverine Drunat
    • Camille Maillard
    • Meriem Garfa-Traore
    • Christine Bole
    • Patrick Nitschke
    • Claire Beneteau
    • Thomas Besnard
    • Benjamin Cogné
    • Marion Eveillard
    • Alice Kuster
    • Karine Poirier
    • Alain Verloes
    • Jelena Martinovic
    • Laurent Bidat
    • Marlène Rio
    • ...

    Brain - A Journal of Neurology ; Volume: 140 ; Page: 2597-2609

    HAL DOI

  • Dual role of DR5 in death and survival signaling leads to TRAIL resistance in cancer cells

    • Yelyzaveta Shlyakhtina
    • Valeria Pavet-Portal
    • Hinrich Gronemeyer

    Cell Death and Disease ; Volume: 8

    HAL DOI

  • MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression

    • Lise-Marie Donnio
    • Baptiste Bidon
    • Satoru Hashimoto
    • Melanie May
    • Alexey Epanchintsev
    • Colm Ryan
    • William Allen
    • Anna Hackett
    • Jozef Gecz
    • Cindy Skinner
    • Roger Stevenson
    • Arjan de Brouwer
    • Charles Coutton
    • Christine Francannet
    • Pierre-Simon Jouk
    • Charles Schwartz
    • Jean-Marc Egly

    Human Molecular Genetics ; Volume: 26 ; Page: 2062-2075

    HAL DOI

  • SECIS-binding protein 2 interacts with the SMN complex and the methylosome for selenoprotein mRNP assembly and translation

    • Anne-Sophie Gribling-Burrer
    • Michael Leichter
    • Laurence Wurth
    • Alexandra Huttin
    • Florence Schlotter
    • Nathalie Troffer-Charlier
    • Vincent Cura
    • Martine Barkats
    • Jean Cavarelli
    • Séverine Massenet
    • Christine Allmang

    Nucleic Acids Research ; Volume: 45 ; Page: 5399-5413

    HAL DOI

  • Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

    • Carlyn Kouwenberg
    • Johann Bohm
    • Corrie Erasmus
    • Irene van Balken
    • Sandra Vos
    • Benno Kusters
    • Erik Kamsteeg
    • Valerie Biancalana
    • Catherine Koch
    • Nicolas Dondaine
    • Jocelyn Laporte
    • Nicol Voermans

    Journal of Neuromuscular Diseases ; Volume: 4 ; Page: 349-355

    HAL DOI