Scientific publications

Publications

• 2022

  • Article in a journal

    Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes

    • Kendall Higgins
    • Bret A. Moore
    • Zorana Berberovic
    • Hibret A. Adissu
    • Mohammad Eskandarian
    • Ann M. Flenniken
    • Andy Shao
    • Denise M. Imai
    • Dave Clary
    • Louise Lanoue
    • Susan Newbigging
    • Lauryl M. J. Nutter
    • David J. Adams
    • Fatima Bosch
    • Robert E. Braun
    • Steve D. M. Brown
    • Mary E. Dickinson
    • Michael Dobbie
    • Paul Flicek
    • Xiang Gao
    • ...

    Scientific Reports ; Volume: 12

    HAL DOI

  • Article in a journal

    HR-Bac, a toolbox based on homologous recombination for expression, screening and production of multiprotein complexes using the baculovirus expression system

    • Olga Kolesnikova
    • Amélie Zachayus
    • Simon Pichard
    • Judit Osz
    • Natacha Rochel
    • Paola Rossolillo
    • Isabelle Kolb-Cheynel
    • Nathalie Troffer-Charlier
    • Emmanuel Compe
    • Olivier Bensaude
    • Imre Berger
    • Arnaud Poterszman

    Scientific Reports ; Volume: 12 ; Page: 2030

    HAL DOI

  • Article in a journal

    Non-proteolytic ubiquitylation in cellular signaling and human disease

    • Yongrong Liao
    • Izabela Sumara
    • Evanthia Pangou

    Communications Biology ; Volume: 5 ; Page: 114

    HAL DOI

  • Article in a journal

    Thiol sensing: From current methods to nanoscale contribution

    • Margaux Berthou
    • Igor Clarot
    • Jeremie Gouyon
    • Damien Steyer
    • Marie Anais Monat
    • Ariane Boudier
    • Arnaud Pallotta

    Microchemical Journal ; Volume: 183 ; Page: 107994

    HAL DOI

  • Article in a journal

    Further delineation of KIF21B-related neurodevelopmental disorders

    • Dhanya Lakshmi Narayanan
    • Jose Rivera Alvarez
    • Peggy Tilly
    • Michelle C. Do Rosario
    • Vivekananda Bhat
    • Juliette Godin
    • Anju Shukla

    Journal of Human Genetics ; Volume: 67 ; Page: 729-733

    HAL DOI

  • Article in a journal

    Language and verbal fluency outcome after bilateral subthalamic Nucleus Deep Brain Stimulation in Parkinson's disease

    • Guillemette Clément
    • Thomas Wirth
    • Lucile Haumesser
    • Marie Des Neiges Santin
    • Jimmy Voirin
    • Ouhaid Lagha-Boukbiza
    • Céline Labonne
    • Christine Tranchant
    • Nadine Longato
    • Clélie Phillipps
    • Mathieu Anheim

    Parkinsonism & related disorders ; Volume: 105 ; Page: 15-18

    HAL DOI

  • Article in a journal

    Genetic landscape of indolent and aggressive Kaposi sarcomas

    • Gabriel Malouf
    • Xiaofan Lu
    • Roger Mouawad
    • Jean-Philippe Spano
    • Philippe Grange
    • F. Yan
    • Selim Aractingi
    • Xiaoping Su
    • Nicolas Dupin

    Journal of the European Academy of Dermatology and Venereology ; Volume: 36 ; Page: 2343-2351

    HAL DOI

  • Article in a journal

    Mutation update for the ACTN2 gene

    • Johanna Ranta-Aho
    • Montse Olive
    • Marie Vandroux
    • Giorgia Roticiani
    • Cristina Dominguez
    • Mridul Johari
    • Annalaura Torella
    • Johann Böhm
    • Janina Turon
    • Vincenzo Nigro
    • Peter Hackman
    • Jocelyn Laporte
    • Bjarne Udd
    • Marco Savarese

    Human Mutation ; Volume: 43 ; Page: 1745-1756

    HAL DOI

  • Article in a journal

    Reply to: "GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype

    • Thomas Wirth
    • Giacomo Garone
    • Manju A. Kurian
    • Amélie Piton
    • Emmanuel Roze
    • Jean Pierre Lin
    • Christine Tranchant
    • Laura Cif
    • Diane Doummar
    • Mathieu Anheim

    Movement Disorders ; Volume: 37 ; Page: 2466-2467

    HAL DOI

  • Article in a journal

    Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

    • Clémence Labasse
    • Guy Brochier
    • Ana-Lia Taratuto
    • Bruno Cadot
    • John Rendu
    • Soledad Monges
    • Valérie Biancalana
    • Susana Quijano-Roy
    • Mai Thao Bui
    • Anaïs Chanut
    • Angéline Madelaine
    • Emmanuelle Lacène
    • Maud Beuvin
    • Helge Amthor
    • Laurent Servais
    • Yvan de Feraudy
    • Marcela Erro
    • Maria Saccoliti
    • Osorio Abath Neto
    • Julien Fauré
    • ...

    Acta Neuropathologica Communications ; Volume: 10 ; Page: 101

    HAL DOI