Genetics and pathophysiology of neurodevelopmental Disorders
Team Leaders : Hervé MOINE , Amelie PITON
Department : Translational medecine and neurogenetics
Amelie PITON
Researcher
piton@igbmc.fr
Research team(s)
Research subgroup(s)
Publications
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2025
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Article in a journal
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
- Salima El Chehadeh
- Solveig Heide
- Chloé Quélin
- Marlène Rio
- Henri Margot
- David Geneviève
- Bertrand Isidor
- Alice Goldenberg
- Caroline Guégan
- Gaëtan Lesca
- Marjolaine Willems
- Clothilde Ormières
- Roseline Caumes
- Tiffany Busa
- Dominique Bonneau
- Anne-Marie Guerrot
- Isabelle Marey
- Gabriella Vera
- Pauline Marzin
- Anaïs Philippe
- ...
Genome Medicine ; Volume: 17 ; Page: 110
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Article in a journal
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
- Caroline Nava
- Benjamin Cogne
- Amandine Santini
- Elsa Leitão
- François Lecoquierre
- Yuyang Chen
- Sarah Stenton
- Thomas Besnard
- Solveig Heide
- Sarah Baer
- Abhilasha Jakhar
- Sonja Neuser
- Boris Keren
- Anne Faudet
- Sylvie Forlani
- Marie Faoucher
- Kevin Uguen
- Konrad Platzer
- Alexandra Afenjar
- Jean-Luc Alessandri
- ...
Nature Genetics
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2024
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Article in a journal
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome
- Jade Fauqueux
- Simon Boussion
- Caroline Thuillier
- Evine Meurisse
- Didier Lacombe
- Marjolaine Willems
- Amélie Piton
- Émilie Ait-Yahya
- Jamal Ghoumid
- Thomas Smol
Journal of Medical Genetics ; Volume: 61
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Article in a journal
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study
- Sarah Baer
- Audrey Schalk
- Marguerite Miguet
- Elise Schaefer
- Salima El Chehadeh
- Emmanuelle Ginglinger
- Anne de Saint-Martin
- Marie-Thérèse Abi-Wardé
- Vincent Laugel
- Yvan de Feraudy
- Lucas Gauer
- Edouard Hirsch
- Clotilde Boulay
- Claire Bansept
- Anamaria Bolocan
- Ismini Kitadinis
- Aurélie Gouronc
- Bénédicte Gerard
- Amélie Piton
- Sophie Scheidecker
Pediatric Neurology ; Volume: 159 ; Page: 16-25
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Article in a journal
Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1
- Ye Duan
- Li Li
- Ganesh Prabhakar Panzade
- Amélie Piton
- Anna Zinovyeva
- Victor Ambros
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 121
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Article in a journal
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
- Thomas Husson
- François Lecoquierre
- Gaël Nicolas
- Anne-Claire Richard
- Alexandra Afenjar
- Séverine Audebert-Bellanger
- Catherine Badens
- Frédéric Bilan
- Varoona Bizaoui
- Anne Boland
- Marie-Noëlle Bonnet-Dupeyron
- Elise Brischoux-Boucher
- Céline Bonnet
- Marie Bournez
- Odile Boute
- Perrine Brunelle
- Roseline Caumes
- Perrine Charles
- Nicolas Chassaing
- Nicolas Chatron
- ...
European Journal of Human Genetics ; Volume: 32 ; Page: 190-199
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Article in a journal
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
- Thomas Wirth
- Céline Bonnet
- Clarisse Delvallée
- David Pellerin
- Thomas Bogdan
- Guillemette Clément
- Audrey Schalk
- Jean-Baptiste Chanson
- Marie-Céline Fleury
- Amélie Piton
- Nadège Calmels
- Izzie-Jacques Namer
- Stéphane Kremer
- Bernard Brais
- Christine Tranchant
- Mathilde Renaud
- Mathieu Anheim
Journal of Neurology ; Volume: 271 ; Page: 2078-2085
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Article in a journal
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X ‐related disorders
- Valentin Ruault
- Pauline Burger
- Johanna Gradels-Hauguel
- Nathalie Ruiz
- Rami Abou Jamra
- Alexandra Afenjar
- Yves Alembik
- Jean‐luc Alessandri
- Stéphanie Arpin
- Giulia Barcia
- Šárka Bendová
- Ange‐line Bruel
- Perrine Charles
- Nicolas Chatron
- Maya Chopra
- Solène Conrad
- Valérie Cormier Daire
- Auriane Cospain
- Christine Coubes
- Juliette Coursimault
- ...
Molecular Genetics & Genomic Medicine ; Volume: 12 ; Page: e2363
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Article in a journal
Lessons from two series by physicians and caregivers' self‐reported data in <i>DDX3X</i>‐related disorders
- Valentin Ruault
- Pauline Burger
- Johanna Gradels‐hauguel
- Nathalie Ruiz
- Rami Abou Jamra
- Alexandra Afenjar
- Yves Alembik
- Jean‐luc Alessandri
- Stéphanie Arpin
- Giulia Barcia
- Šárka Bendová
- Ange‐line Bruel
- Perrine Charles
- Nicolas Chatron
- Maya Chopra
- Solène Conrad
- Valérie Cormier Daire
- Auriane Cospain
- Christine Coubes
- Juliette Coursimault
- ...
Molecular Genetics & Genomic Medicine ; Volume: 12
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Article in a journal
Rare Missense Variants in <i>KCNJ10</i> Are Associated with Paroxysmal Kinesigenic Dyskinesia
- Thomas Wirth
- Emmanuel Roze
- Clarisse Delvallée
- Oriane Trouillard
- Nathalie Drouot
- Philippe Damier
- Clotilde Boulay
- Marine Bourgninaud
- Prasanthi Jegatheesan
- Aude Sangare
- Sylvie Forlani
- Bertrand Gaymard
- Rémi Hervochon
- Vincent Navarro
- Nadège Calmels
- Audrey Schalk
- Christine Tranchant
- Amélie Piton
- Aurélie Méneret
- Mathieu Anheim
Movement Disorders ; Volume: 39 ; Page: 897 - 905
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