Amelie PITON

Publications

• 2019

  • Article in a journal

    Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

    • Alejandro Estrada-Cuzcano
    • Christelle Etard
    • Clarisse Delvallée
    • Corinne Stoetzel
    • Elise Schaefer
    • Sophie Scheidecker
    • Véronique Geoffroy
    • Aline Schneider
    • Fouzia Studer
    • Francesca Mattioli
    • Kirsley Chennen
    • Sabine Sigaudy
    • Damien Plassard
    • Olivier Poch
    • Amélie Piton
    • Uwe Strahle
    • Jean Muller
    • Hélène Dollfus

    Human Mutation

    HAL DOI

  • Article in a journal

    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    • Chris Balak
    • Marianne Bénard
    • Elise Schaefer
    • Sumaiya Iqbal
    • Keri Ramsey
    • Michèle M. Ernoult-Lange
    • Francesca Mattioli
    • Lorida Llaci
    • Véronique Geoffroy
    • Maïté Courel
    • Marcus Naymik
    • Kristine K Bachman
    • Rolph Pfundt
    • Patrick Rump
    • Johanna ter Beest
    • Ingrid M Wentzensen
    • Kristin G Monaghan
    • Kirsty Mcwalter
    • Ryan Richholt
    • Antony Le Béchec
    • ...

    American Journal of Human Genetics ; Volume: 105 ; Page: 509-525

    HAL DOI

  • Article in a journal

    Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

    • Francesco Mattiotti
    • B Isidor
    • O Abdul-Rahman
    • A Gunter
    • L Huang
    • R Kumar
    • C Beaulieu
    • J Gecz
    • M Innes
    • Jean-Louis Mandel
    • Amélie Piton

    Human Molecular Genetics ; Volume: 28 ; Page: 952-960

    HAL DOI

  • Article in a journal

    Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

    • Angélique Quartier
    • Jérémie Courraud
    • Thuong Thi Ha
    • George Mcgillivray
    • Bertrand Isidor
    • Katherine Rose
    • Nathalie Drouot
    • Marie Savidan
    • Claire Feger
    • Hélène Jagline
    • Jamel Chelly
    • Marie Shaw
    • Frédéric Laumonnier
    • Jozef Gecz
    • Jean-Louis Mandel
    • Amélie Piton

    Human Mutation ; Volume: 40 ; Page: 2021-2032

    HAL DOI

• 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

    CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

    • Louise Montagne
    • Mehdi Derhourhi
    • Amélie Piton
    • Bénédicte Toussaint
    • Emmanuelle Durand
    • Emmanuel Vaillant
    • Dorothée Thuillier
    • Stefan Gaget
    • Franck de Graeve
    • Iandry Rabearivelo
    • Amélie Lansiaux
    • Bruno Lenne
    • Sylvie Sukno
    • Rachel Desailloud
    • Miriam Cnop
    • Ramona Nicolescu
    • Lior Cohen
    • Jean-François Zagury
    • Mélanie Amouyal
    • Jacques Weill
    • ...

    Molecular metabolism ; Volume: 13 ; Page: 1-9

    HAL DOI

  • Article in a journal

    AnnotSV: An integrated tool for Structural Variations annotation

    • Véronique Geoffroy
    • Yvan Herenger
    • Arnaud Kress
    • Corinne Stoetzel
    • Amélie Piton
    • Hélène Dollfus
    • Jean Muller

    Bioinformatics ; Volume: 34 ; Page: 3572-3574

    HAL DOI

  • Article in a journal

    Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

    • Angélique Quartier
    • Laure Chatrousse
    • Claire Redin
    • Céline Keime
    • Nicolas Haumesser
    • Anne Maglott-Roth
    • Laurent Brino
    • Stephanie Le Gras
    • Alexandra Benchoua
    • Jean-Louis Mandel
    • Amélie Piton

    Biological psychiatry ; Volume: 84 ; Page: 239-252

    HAL DOI

  • Article in a journal

    Defining the phenotypic spectrum of SLC6A1 mutations

    • Katrine M Johannesen
    • Elena Gardella
    • Tarja Linnankivi
    • Carolina Courage
    • Anne de Saint Martin
    • Anna-Elina Lehesjoki
    • Cyril Mignot
    • Alexandra Afenjar
    • Gaetan Lesca
    • Marie-Thérèse Abi-Warde
    • Jamel Chelly
    • Amélie Piton
    • J. Lawrence Merritt
    • Lance H Rodan
    • Wen-Hann Tan
    • Lynne Bird
    • Mark Nespeca
    • Joseph Gleeson
    • Yongjin Yoo
    • Murim Choi
    • ...

    Epilepsia ; Volume: 32 ; Page: 389-402

    HAL DOI

• 2017

  • Article in a journal

    WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

    • Meghna Kannan
    • Efil Bayam
    • Christel Wagner
    • Bruno Rinaldi
    • Perrine Kretz
    • Peggy Tilly
    • Marna Roos
    • Lara Mcgillewie
    • Séverine Bär
    • Shilpi Minocha
    • Claire Chevalier
    • Chrystelle Po
    • Jamel Chelly
    • Jean-Louis Mandel
    • Renato Borgatti
    • Amélie Piton
    • Craig Kinnear
    • Ben Loos
    • David Adams
    • Yann Herault
    • ...

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 114 ; Page: E9308-E9317

    HAL DOI