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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2022
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Article in a journal
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
- Pauline Burger
- Florent Colin
- Axelle Strehle
- Timothée Mazzucotelli
- Nicole Collot
- Romain Coutelle
- Benjamin Durand
- Arianne Bouman
- Daphna Landau Prat
- Tjitske Kleefstra
- Pierre Parrend
- Amélie Piton
- David Koolen
- Jean-Louis Mandel
Journal of Neural Transmission ; Volume: 27 ; Page: 1-13
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Article in a journal
Molecular and clinical descriptions of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations
- Pierre‐yves Maillard
- Sarah Baer
- Elise Schaefer
- Béatrice Desnous
- Nathalie Villeneuve
- Anne Lépine
- Alexandre Fabre
- Caroline Lacoste
- Salima El Chehadeh
- Amélie Piton
- Louise Frances Porter
- Caroline Perriard
- Marie-Thérèse Abi-Wardé
- Marie-Aude Spitz
- Vincent Laugel
- Gaëtan Lesca
- Audrey Putoux
- Dorothée Ville
- Cyril Mignot
- Delphine Héron
- ...
Epilepsia ; Volume: 63 ; Page: 2519-2533
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Article in a journal
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
- Marcello Scala
- Nathalie Drouot
- Suzanna C. Maclennan
- Marja W. Wessels
- Magdalena Krygier
- Lisa Pavinato
- Aida Telegrafi
- Stella A. de Man
- Marjon van Slegtenhorst
- Michele Iacomino
- Francesca Madia
- Paolo Scudieri
- Paolo Uva
- Thea Giacomini
- Giulia Nobile
- Maria Margherita Mancardi
- Ganna Balagura
- Giovanni Battista Galloni
- Alberto Verrotti
- Muhammad Umair
- ...
Human Mutation ; Volume: 43 ; Page: 1299-1313
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Article in a journal
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
- Salima El Chehadeh
- Kyung Ah Han
- Dongwook Kim
- Gyubin Jang
- Somayeh Bakhtiari
- Dongseok Lim
- Hee Young Kim
- Jinhu Kim
- Hyeonho Kim
- Julia Wynn
- Wendy K. Chung
- Giuseppina Vitiello
- Ioana Cutcutache
- Matthew Page
- Jozef Gecz
- Kelly Harper
- Ah-Reum Han
- Ho Min Kim
- Marja Wessels
- Allan Bayat
- ...
Nature Communications ; Volume: 13 ; Page: 4112
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Article in a journal
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes
- Benjamin Durand
- Elise Schaefer
- Pauline Burger
- Sarah Baer
- Carmen Maria Schröder
- Jean-Louis Mandel
- Amélie Piton
- Romain Coutelle
Clinical Genetics ; Volume: 102 ; Page: 296-304
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Article in a journal
Highlighting the Dystonic Phenotype Related to GNAO1
- Fernando Acosta
- Catherine Nowak
- William G. Wilson
- Dora Steel
- Thomas Wirth
- Giacomo Garone
- Manju A. Kurian
- Amélie Piton
- Francisca Millan
- Aida Telegrafi
- Nathalie Drouot
- Gabrielle Rudolf
- Jamel Chelly
- Warren Marks
- Lydie Burglen
- Diane Demailly
- Philippe Coubes
- Mayté Castro Jimenez
- Sylvie Joriot
- Jamal Ghoumid
- ...
Movement Disorders ; Volume: 37 ; Page: 1547-1554
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Article in a journal
Expanding the phenotypic spectrum of ARCN1-related syndrome
- Alyssa L. Ritter
- Jessica Gold
- Hiroshi Hayashi
- Amanda M. Ackermann
- Stephanie Hanke
- Cara Skraban
- Sanmati Cuddapah
- Elizabeth Bhoj
- Dong Li
- Yukiko Kuroda
- Jessica Wen
- Ryojun Takeda
- Audrey Bibb
- Salima El Chehadeh
- Amélie Piton
- Jeanine Ohl
- Mary K. Kukolich
- Keisuke Nagasaki
- Kohji Kato
- Tomoo Ogi
- ...
Genetics in Medicine ; Volume: 24 ; Page: 1227-1237
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Article in a journal
De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia
- Thomas Wirth
- Aurélie Méneret
- Nathalie Drouot
- Gabrielle Rudolf
- Ouhaid Lagha Boukbiza
- Jamel Chelly
- Christine Tranchant
- Amélie Piton
- Emmanuel Roze
- Mathieu Anheim
Movement Disorders ; Volume: 37 ; Page: 1115-1117
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2021
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Article in a journal
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
- Audrey Schalk
- Margot A Cousin
- Nikita R Dsouza
- Thomas D Challman
- Karen E Wain
- Zoe Powis
- Kelly Minks
- Aurélien Trimouille
- Eulalie Lasseaux
- Didier Lacombe
- Chloé Angelini
- Vincent Michaud
- Julien Van-Gils
- Nino Spataro
- Anna Ruiz
- Elizabeth Gabau
- Elliot Stolerman
- Camerun Washington
- Ray Louie
- Brendan C Lanpher
- ...
Journal of Medical Genetics
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Article in a journal
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
- Jérémie Courraud
- Eric Chater-Diehl
- Benjamin Durand
- Marie Vincent
- Maria del Mar Muñiz Moreno
- Imène Boujelbene
- Nathalie Drouot
- Lauréline Genschik
- Elise Schaefer
- Mathilde Nizon
- Bénédicte Gerard
- Marc Abramowicz
- Benjamin Cogné
- Lucas Bronicki
- Lydie Burglen
- Magalie Barth
- Perrine Charles
- Estelle Colin
- Christine Coubes
- Albert David
- ...
Genetics in Medicine ; Volume: 23 ; Page: 2150–2159
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