Stephanie LE GRAS

Publications

• 2013

  • Trim24-repressed VL30 retrotransposons regulate gene expression by producing noncoding RNA

    • Benjamin Herquel
    • Khalid Ouararhni
    • Igor Martianov
    • Stéphanie Le Gras
    • Tao Ye
    • Céline Keime
    • Thierry Lerouge
    • Bernard Jost
    • Florence Cammas
    • Régine Losson
    • Irwin Davidson

    Nature Structural and Molecular Biology ; Volume: 20 ; Page: 339-346

    HAL DOI

  • Chromatin signatures and retrotransposon profiling in mouse embryos reveal regulation of LINE-1 by RNA

    • Anas Fadloun
    • Stéphanie Le Gras
    • Bernard Jost
    • Céline Ziegler-Birling
    • H Takahashi
    • E Gorab
    • P Carninci
    • Maria Elena Torres Padilla

    Nature Structural and Molecular Biology ; Volume: 20 ; Page: 332-338

    HAL DOI

  • An integrated diagnosis strategy for congenital myopathies.

    • Johann Böhm
    • Nasim Vasli
    • Edoardo Malfatti
    • Stéphanie Le Gras
    • Claire Feger
    • Bernard Jost
    • Nicole Monnier
    • Julie Brocard
    • Hatice Karasoy
    • Marion Gérard
    • Maggie C. Walter
    • Peter Reilich
    • Valérie Biancalana
    • Christine Kretz
    • Nadia Messaddeq
    • Isabelle Marty
    • Joël Lunardi
    • Norma B. Romero
    • Jocelyn Laporte

    PLoS ONE ; Volume: 8 ; Page: e67527

    HAL DOI

• 2012

  • Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

    • Johann Böhm
    • Esther Leshinsky-Silver
    • Stéphane Vassilopoulos
    • Stéphanie Le Gras
    • Tally Lerman-Sagie
    • Mira Ginzberg
    • Bernard Jost
    • Dorit Lev
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 124 ; Page: 575-581

    HAL DOI

  • Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes

    • Claire Redin
    • Stéphanie Le Gras
    • Oussema Mhamdi
    • Véronique Geoffroy
    • Corinne Stoetzel
    • Marie-Claire Vincent
    • Pietro Chiurazzi
    • Didier Lacombe
    • Ines Ouertani
    • Florence Petit
    • Marianne Till
    • Alain Verloes
    • Bernard Jost
    • Habiba Bouhamed Chaabouni
    • Helene Dollfus
    • Jean-Louis Mandel
    • Jean Muller

    Journal of Medical Genetics ; Volume: 49 ; Page: 502-512

    HAL DOI

  • Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

    • Claire Redin
    • Stéphanie Le Gras
    • Oussema Mhamdi
    • Véronique Geoffroy
    • Corinne Stoetzel
    • Marie-Claire Vincent
    • Pietro Chiurazzi
    • Didier Lacombe
    • Ines Ouertani
    • Florence Petit
    • Marianne Till
    • Alain Verloes
    • Bernard Jost
    • Habiba Bouhamed Chaabouni
    • Helene Dollfus
    • Jean-Louis Mandel
    • Jean Muller

    Journal of Medical Genetics ; Volume: 49 ; Page: 502-512

    HAL DOI

  • Next generation sequencing for molecular diagnosis of neuromuscular diseases

    • Nasim Vasli
    • Johann Böhm
    • Stéphanie Le Gras
    • Jean Muller
    • Cécile Pizot
    • Bernard Jost
    • Andoni Echaniz‐laguna
    • Vincent Laugel
    • Christine Tranchant
    • Rafaelle Bernard
    • Frederic Plewniak
    • Serge Vicaire
    • Nicolas Levy
    • Jamel Chelly
    • Jean-Louis Mandel
    • Valerie Biancalana
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 124 ; Page: 273 - 283

    HAL DOI

• 2011

  • Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma

    • T Strub
    • S. Giuliano
    • T Ye
    • C Bonet
    • C. Keime
    • D Kobi
    • S. Le Gras
    • M. Cormont
    • R Ballotti
    • C. Bertolotto
    • I Davidson

    Oncogene ; Volume: 30 ; Page: 2319-2332

    HAL DOI

• 2010

  • A Strategy for Direct Mapping and Identification of Mutations by Whole-Genome Sequencing

    • Steven Zuryn
    • Stéphanie Le Gras
    • Karine Jamet
    • Sophie Jarriault

    Genetics ; Volume: 186 ; Page: 427-430

    HAL DOI

  • Genome-wide analysis of POU3F2/BRN2 promoter occupancy in human melanoma cells reveals Kitl as a novel regulated target gene

    • Dominique Kobi
    • Anne-Lise Steunou
    • Doulaye Dembélé
    • Stéphanie Le Gras
    • Lionel Larue
    • Laurence Nieto
    • Irwin Davidson

    Pigment Cell & Melanoma research ; Volume: 23 ; Page: 404-418

    HAL DOI