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
2021
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
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
Article in a journal
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant
- Idriss Bousquet
- Muriel Bozon
- Valerie Castellani
- Renaud Touraine
- Amélie Piton
- Bénédicte Gerard
- Laurent Guibaud
- Damien Sanlaville
- Patrick Edery
- Pascale Saugier-Veber
- Audrey Putoux
Neurogenetics ; Volume: 22 ; Page: 43-51
Article in a journal
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation
- Florence Jobic
- Emilie Lacot-Leriche
- Amelie Piton
- Anne-Gaelle Le Moing
- Michele Mathieu-Dramard
- Sara Costantini
- Gilles Morin
- Guillaume Jedraszak
American Journal of Medical Genetics Part A ; Volume: 185 ; Page: 3877-3883
Article in a journal
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
- Livia Loureiro
- Jennifer L. Howe
- Miriam Reuter
- Alana Iaboni
- Kristina Calli
- Delnaz Roshandel
- Iva Pritišanac
- Alan Moses
- Julie D Forman-Kay
- Brett Trost
- Mehdi Zarrei
- Olivia Rennie
- Lynette Lau
- Christian R Marshall
- Siddharth Srivastava
- Brianna Godlewski
- Elizabeth Buttermore
- Mustafa Sahin
- Dean Hartley
- Thomas Frazier
- ...
npj Genomic Medicine ; Volume: 6 ; Page: 91
2020
Article in a journal
DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.
- A. Bruel
- B. Gerard
- A. Piton
- F. Tran Mau-Them
- A. Sorlin
- A. Sorly
- D. Lacombe
- S. Manouvrier
- P. Edery
- Nicole Philip
- D. Genevieve
- A. Verloes
- S. Odent
- J. Thevenon
- A. Toutain
- D. Bonneau
- S. El Chehadeh
- M. Doco-Fenzy
- B. Isidor
- A. Goldenberg
- ...
European Journal of Human Genetics ; Volume: 28 ; Page: 333-334
Article in a journal
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
- Gerarda Cappuccio
- Camille Sayou
- Pauline Le Tanno
- Emilie Tisserant
- Ange-Line Bruel
- Sara El Kennani
- Joaquim Sá
- Karen Low
- Cristina Dias
- Marketa Havlovicova
- Miroslava Hančárová
- Evan Eichler
- Françoise Devillard
- Sébastien Moutton
- Julien Van-Gils
- Christèle Dubourg
- Sylvie Odent
- Bénédicte Gérard
- Amélie Piton
- Toshiyuki Yamamoto
- ...
Genetics in Medicine ; Volume: 22 ; Page: 1838-1850
Article in a journal
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
- Francesca Mattioli
- Gaelle Hayot
- Nathalie Drouot
- Bertrand Isidor
- Jérémie Courraud
- Maria-Victoria Hinckelmann
- Frederic Tran Mau-Them
- Chantal Sellier
- Alica Goldman
- Aida Telegrafi
- Alicia Boughton
- Candace Gamble
- Sebastien Moutton
- Angélique Quartier
- Nolwenn Jean
- Paul van Ness
- Sarah Grotto
- Sophie Nambot
- Ganka Douglas
- Yue Cindy Si
- ...
American Journal of Human Genetics ; Volume: 106 ; Page: 438-452
Article in a journal
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
- Ghayda M. Mirzaa
- Jessica Chong
- Amélie Piton
- Bernt Popp
- Kimberly Foss
- Hui Guo
- Ricardo Harripaul
- Kun Xia
- Joshua Scheck
- Kimberly Aldinger
- Samin Sajan
- Sha Tang
- Dominique Bonneau
- Anita Beck
- Janson J. White
- Sonal Mahida
- Jacqueline Harris
- Constance Smith-Hicks
- Juliane Hoyer
- Christiane Zweier
- ...
Genetics in Medicine ; Volume: 22 ; Page: 538-546
Article in a journal
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
- Aurélien Juven
- Sophie Nambot
- Amélie Piton
- Nolwenn Jean-Marçais
- Alice Masurel
- Patrick Callier
- Nathalie Marle
- Anne-Laure Mosca-Boidron
- Paul Kuentz
- Christophe Philippe
- Martin Chevarin
- Yannis Duffourd
- Élodie Gautier
- Arnold Munnich
- Marlene Rio
- Sophie Rondeau
- Salima El Chehadeh
- Elise Schaefer
- Bénédicte Gerard
- Sonia Bouquillon
- ...
European Journal of Human Genetics