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
2020
Article in a journal
Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability
- Dominique Weil
- Amélie Piton
- Davor Lessel
- Nancy Standart
Biochemical Society Transactions ; Volume: 48 ; Page: 1199-1211
Article in a journal
Sex-specific impact of prenatal androgens on social brain default mode subsystems
- Michael Lombardo
- Bonnie Auyeung
- Tiziano Pramparo
- Angélique Quartier
- Jérémie Courraud
- Rosemary Holt
- Jack Waldman
- Amber Ruigrok
- Natasha Mooney
- Richard Bethlehem
- Meng-Chuan Lai
- Prantik Kundu
- Edward Bullmore
- Jean-Louis Mandel
- Amélie Piton
- Simon Baron-Cohen
Molecular Psychiatry ; Volume: 25 ; Page: 2175-2188
Article in a journal
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
- Maria J. Nabais Sa
- Hanka Venselaar
- Laurens Wiel
- Aurelien Trimouille
- Eulalie Lasseaux
- Sophie Naudion
- Didier Lacombe
- Amélie Piton
- Catherine Vincent-Delorme
- Christiane Zweier
- André Reis
- Regina Trollmann
- Anna Ruiz
- Elisabeth Gabau
- Annalisa Vetro
- Renzo Guerrini
- Somayeh Bakhtiari
- Michael C. Kruer
- David J. Amor
- Monica S. Cooper
- ...
Genetics in Medicine ; Volume: 22 ; Page: 797-802
2019
Article in a journal
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
- Eric Chater-Diehl
- Resham Ejaz
- Cheryl Cytrynbaum
- Michelle Siu
- Andrei Turinsky
- Sanaa Choufani
- Sarah Goodman
- Omar Abdul-Rahman
- Melanie Bedford
- Naghmeh Dorrani
- Kendra Engleman
- Josue Flores-Daboub
- David Geneviève
- Roberto Mendoza-Londono
- Wendy Meschino
- Laurence Perrin
- Nicole Safina
- Sharron Townshend
- Stephen W. Scherer
- Evdokia Anagnostou
- ...
BMC Medical Genomics ; Volume: 12
Article in a journal
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
- Alejandro Estrada-Cuzcano
- Christelle Etard
- Clarisse Delvallée
- Corinne Stoetzel
- Elise Schaefer
- Sophie Scheidecker
- Véronique Geoffroy
- Aline Schneider
- Fouzia Studer
- Francesca Mattioli
- Kirsley Chennen
- Sabine Sigaudy
- Damien Plassard
- Olivier Poch
- Amélie Piton
- Uwe Strahle
- Jean Muller
- Hélène Dollfus
Human Mutation
Article in a journal
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
- Chris Balak
- Marianne Bénard
- Elise Schaefer
- Sumaiya Iqbal
- Keri Ramsey
- Michèle M. Ernoult-Lange
- Francesca Mattioli
- Lorida Llaci
- Véronique Geoffroy
- Maïté Courel
- Marcus Naymik
- Kristine K Bachman
- Rolph Pfundt
- Patrick Rump
- Johanna ter Beest
- Ingrid M Wentzensen
- Kristin G Monaghan
- Kirsty Mcwalter
- Ryan Richholt
- Antony Le Béchec
- ...
American Journal of Human Genetics ; Volume: 105 ; Page: 509-525
Article in a journal
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
Article in a journal
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
2018
Article in a journal
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
Article in a journal
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