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
-
2019
-
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
-
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment
- Angélique Quartier
- Jérémie Courraud
- Thuong Thi Ha
- George Mcgillivray
- Bertrand Isidor
- Katherine Rose
- Nathalie Drouot
- Marie Savidan
- Claire Feger
- Hélène Jagline
- Jamel Chelly
- Marie Shaw
- Frédéric Laumonnier
- Jozef Gecz
- Jean-Louis Mandel
- Amélie Piton
Human Mutation ; Volume: 40 ; Page: 2021-2032
-
-
2018
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-