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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2023
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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
- Jérémie Courraud
- Camille Engel
- Angélique Quartier
- Nathalie Drouot
- Ursula Houessou
- Damien Plassard
- Arthur Sorlin
- Elise Brischoux-Boucher
- Evan Gouy
- Lionel Van Maldergem
- Massimiliano Rossi
- Gaetan Lesca
- Patrick Edery
- Audrey Putoux
- Frederic Bilan
- Brigitte Gilbert-Dussardier
- Isis Atallah
- Vera M. Kalscheuer
- Jean-Louis Mandel
- Amélie Piton
Molecular Psychiatry
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Growth charts in DYRK1A syndrome
- Pierre‐louis Lanvin
- Thomas Goronflot
- Bertrand Isidor
- Mathilde Nizon
- Benjamin Durand
- Salima El Chehadeh
- David Geneviève
- Valentin Ruault
- Mélanie Fradin
- Laurent Pasquier
- Julien Thevenon
- Bruno Delobel
- Lydie Burglen
- Alexandra Afenjar
- Laurence Faivre
- Christine Francannet
- Anne‐marie Guerrot
- Alice Goldenberg
- Sandra Mercier
- Delphine Héron
- ...
American Journal of Medical Genetics Part A ; Volume: 194 ; Page: 9-16
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The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance
- Mira Brazane
- Dilyana Dimitrova
- Julien Pigeon
- Chiara Paolantoni
- Tao Ye
- Virginie Marchand
- Bruno da Silva
- Elise Schaefer
- Margarita Angelova
- Zornitza Stark
- Martin Delatycki
- Tracy Dudding-Byth
- Jozef Gecz
- Pierre-Yves Plaçais
- Laure Teysset
- Thomas Préat
- Amélie Piton
- Bassem Hassan
- Jean-Yves Roignant
- Yuri Motorin
- ...
Life Science Alliance ; Volume: 6 ; Page: e202201877
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GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome
- Pauline Burger
- Florent Colin
- Axelle Strehle
- Timothée Mazzucotelli
- Nicole Collot
- Ariane Bouman
- Daphna Landau Prat
- David Geneviève
- Valentin Ruault
- Roseline Caumes
- Thomas Smol
- Jamal Ghoumid
- Joost Kummeling
- Charlotte Ockeloen
- Tjitske Kleefstra
- Pierre Parrend
- Amélie Piton
- David Koolen
- Jean-Louis Mandel
Genetics in Medicine Open ; Volume: 1 ; Page: 100699
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ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
- Maria W. A. Teunissen
- Elly Lewerissa
- Eline J. H. van Hugte
- Shan Wang
- Charlotte W. Ockeloen
- David A. Koolen
- Rolph Pfundt
- Carlo L. M. Marcelis
- Eva Brilstra
- Jennifer L. Howe
- Stephen W. Scherer
- Xavier Le Guillou
- Frédéric Bilan
- Michelle Primiano
- Jasmin Roohi
- Amélie Piton
- Anne de Saint Martin
- Sarah Baer
- Simone Seiffert
- Konrad Platzer
- ...
Human Molecular Genetics ; Volume: 32 ; Page: 2373-2385
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2022
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Reply to: "GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype
- Thomas Wirth
- Giacomo Garone
- Manju A. Kurian
- Amélie Piton
- Emmanuel Roze
- Jean Pierre Lin
- Christine Tranchant
- Laura Cif
- Diane Doummar
- Mathieu Anheim
Movement Disorders ; Volume: 37 ; Page: 2466-2467
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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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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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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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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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