Génétique et physiopathologie de maladies neurodéveloppementales
Chefs d'équipe : Hervé MOINE , Amelie PITON
Département : Médecine translationnelle et neurogénétique
Amelie PITON
Chercheuse
piton@igbmc.fr
Équipe(s)
Sous-groupe(s)
Publications
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2019
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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
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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
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2018
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WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy
- Binnaz Yalcin
- Meghna Kannan
- Christel Wagner
- Marna Roos
- Bruno Rinaldi
- Perrine Kretz
- Lara Mcgillewie
- Séverine Bär
- Shilpi Minocha
- Chrystelle Po
- Jamel Chelly
- Jean-Louis Mandel
- Renato Borgatti
- Amélie Piton
- Stephan Collins
- Craig Kinnear
- Yann Herault
- Sylvie Friant
- Ben Loos
Volume: 26 ; Page: 111
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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
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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
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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
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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
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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
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2017
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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
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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
- Laurence Faivre
- Amélie Piton
- Helene Poquet
- Paul Kuentz
- Julien Thevenon
- Anne-Laure Mosca-Boidron
- Patrick Callier
- Frédéric Huet
- Benoit Trojak
- Daphne Lehalle
- Christel Thauvin-Robinet
European Journal of Human Genetics ; Volume: 25 ; Page: 423-431
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