Scientific publications

Publications

• 2018

  • Article in a journal

    Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

    • Laura Mary
    • Amélie Piton
    • Elise Schaefer
    • Francesca Mattioli
    • Elsa Nourisson
    • Claire Feger
    • Claire Redin
    • Magali Barth
    • Salima El Chehadeh
    • Estelle Colin
    • Christine Coubes
    • Laurence Faivre
    • Elisabeth Flori
    • David Geneviève
    • Yline Capri
    • Laurence Perrin
    • Jennifer Fabre-Teste
    • Dana Timbolschi
    • Alain Verloes
    • Robert Olaso
    • ...

    European Journal of Human Genetics ; Volume: 26 ; Page: 996 - 1006

    HAL DOI

  • Article in a journal

    Analysis of shared heritability in common disorders of the brain

    • Verneri Anttila
    • Brenda Sullivan
    • Hilary Finucane
    • Walter Walters
    • Jose Bras
    • Laramie Duncan
    • Valentina Price
    • Guido Falcone
    • Padhraig Gormley
    • Rainer Malik
    • Pat Patsopoulos
    • Stephan Ripke
    • Wei Wei
    • Dongmei Yu
    • Phil L Lee
    • Patrick Turley
    • Benjamin Grenier-Boley
    • Vincent Chouraki
    • Yoichiro Kamatani
    • Claudine Berr
    • ...

    Science ; Volume: 360 ; Page: eaap8757

    HAL DOI

  • Article in a journal

    Analytical validation of two second generation thyroglobulin immunoassays (Roche and Thermo Fisher)

    • François-Marie Moussallieh
    • Miora Koloina Ranaivosoa
    • Sarah Romain
    • Nathalie Reix

    Clinical Chemistry and Laboratory Medicine ; Volume: 56

    HAL DOI

  • Article in a journal

    Thymoquinone challenges UHRF1 to commit auto-ubiquitination: a key event for apoptosis induction in cancer cells

    • Abdulkhaleg Ibrahim
    • Mahmoud Alhosin
    • Christophe Papin
    • Khalid Ouararhni
    • Ziad Omran
    • Mazin A. Zamzami
    • Abdulrahman Labeed Al-Malki
    • Hani Choudhry
    • Yves Mély
    • Ali Hamiche
    • Marc Mousli
    • Christian Bronner

    Oncotarget ; Volume: 9 ; Page: 28599-28611

    HAL DOI

  • Article in a journal

    Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription

    • Farrah El-Saafin
    • Cynthia Curry
    • Tao Ye
    • Jean-Marie Garnier
    • Isabelle Kolb-Cheynel
    • Matthieu Stierlé
    • Natalie Downer
    • Mathew Dixon
    • Luc Négroni
    • Imre Berger
    • Tim Thomas
    • Anne Voss
    • William Dobyns
    • Didier Devys
    • Laszlo Tora

    Human Molecular Genetics ; Volume: 27 ; Page: 2171-2186

    HAL DOI

  • Article in a journal

    PTEN deletion in luminal cells of mature prostate induces replication stress and senescence in vivo

    • Maxime Parisotto
    • Elise Grelet
    • Rana El Bizri
    • Yongyuan Dai
    • Julie Terzic
    • Doriane Eckert
    • Laetitia Gargowitsch
    • Jean-Marc Bornert
    • Daniel Metzger

    Journal of Experimental Medicine ; Volume: 215 ; Page: 1749-1763

    HAL DOI

  • Article in a journal

    ED days 2018 - École doctorale des sciences de la vie et de la santé de l’Université de Strasbourg

    • Isaac Bugueno Valdebenito
    • Chloé Groh
    • Magdalène Kosfitskas
    • Valentin Marquis
    • Jo-Ann Nettersheim
    • Elisabete Silva
    • Mélanie Muser
    • Pascal Darbon

    Médecine/Sciences ; Volume: 34 ; Page: 618-621

    HAL DOI

  • Article in a journal

    Synaptic dysfunction in amygdala in intellectual disorder models

    • Marianne Aincy
    • Hamid Meziane
    • Yann Herault
    • Yann Humeau

    Progress in Neuro-Psychopharmacology and Biological Psychiatry ; Volume: 84 ; Page: 392-397

    HAL DOI

  • Article in a journal

    Translating Molecular Advances in Down Syndrome and Fragile X Syndrome Into Therapies

    • Victor Faundez
    • Ilario De Toma
    • Barbara Bardoni
    • Renata Bartesaghi
    • Dean Nizetic
    • Rafael de La Torre
    • Roi Cohen Kadosh
    • Yann Herault
    • Mara Dierssen
    • Marie-Claude Potier
    • Down Syndrome And Other Genetic Developmental Disorders Ecnp Network

    European Neuropsychopharmacology

    HAL

  • Article in a journal

    Volta phase plate data collection facilitates image processing and cryo-EM structure determination

    • Ottilie von Loeffelholz
    • Gabor Papai
    • Radostin Danev
    • Alexander G. Myasnikov
    • S. Kundhavai Natchiar
    • Isabelle Hazemann
    • Jean-François Ménétret
    • Bruno P. Klaholz

    Journal of Structural Biology ; Volume: 202 ; Page: 191-199

    HAL DOI