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
2018
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
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
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
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
Article in a journal
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
Article in a journal
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
- Ashley P. L. Marsh
- Delphine Héron
- Timothy J. Edwards
- Angélique Quartier
- Charles Galea
- Caroline Nava
- Agnès Rastetter
- Marie-Laure Moutard
- Vicki Anderson
- Pierre Bitoun
- Jens Bunt
- Anne Faudet
- Catherine Garel
- Greta Gillies
- Ilan Gobius
- Justine Guegan
- Solveig Heide
- Boris Keren
- Fabien Lesne
- Vesna Lukic
- ...
Nature Genetics ; Volume: 49 ; Page: 511-514
Article in a journal
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
- Angélique Quartier
- Hélène Poquet
- Brigitte Gilbert-Dussardier
- Massimiliano Rossi
- Anne-Sophie Casteleyn
- Vincent Des Portes
- Claire Feger
- Elsa Nourisson
- Paul Kuentz
- Claire Redin
- Julien Thevenon
- Anne-Laure Mosca-Boidron
- Patrick Callier
- Jean Muller
- Gaetan Lesca
- Frédéric Huet
- Véronique Geoffroy
- Salima El Chehadeh
- Matthieu Jung
- Benoit Trojak
- ...
European Journal of Human Genetics ; Volume: 25 ; Page: 423 - 431
Article in a journal
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
- Francesca Mattioli
- Elise Schaefer
- Alex Magee
- Paul Mark
- Grazia Mancini
- Klaus Dieterich
- Gretchen von Allmen
- Marielle Alders
- Charles Coutton
- Marjon van Slegtenhorst
- Gaëlle Vieville
- Mark Engelen
- Jan Cobben
- Jane Juusola
- Aurora Pujol
- Jean-Louis Mandel
- Amélie Piton
American Journal of Human Genetics ; Volume: 100 ; Page: 105-116
2016
Article in a journal
The molecular and phenotypic spectrum of IQSEC2 -related epilepsy
- Ayelet Zerem
- Kazuhiro Haginoya
- Dorit Lev
- Lubov Blumkin
- Sara Kivity
- Ilan Linder
- Cheryl Shoubridge
- Elizabeth Emma Palmer
- Michael Field
- Jackie Boyle
- David Chitayat
- William Gaillard
- Eric Kossoff
- Marjolaine Willems
- David Geneviève
- Frédéric Tran-Mau-Them
- Orna Epstein
- Eli Heyman
- Sarah Dugan
- Alice Masurel-Paulet
- ...
Epilepsia ; Volume: 57 ; Page: 1858 - 1869
Article in a journal
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
- Paul Masurel-Paulet
- Amélie Piton
- Sophie Chancenotte
- Claire Redin
- Christel Thauvin-Robinet
- Yvan Henrenger
- Delphine Minot
- Audrey Creppy
- Marie Ruffier-Bourdet
- Julien Thévenon
- Paul Kuentz
- Daphne Lehalle
- Aurore Curie
- Gaëlle Blanchard
- Ezzat Ghosn
- Marlène Bonnet
- Mélanie Archimbaud-Devilliers
- Frédéric Huet
- Odile Perret
- Nicole Philip
- ...
American Journal of Medical Genetics Part A ; Volume: 170 ; Page: 2103 - 2110