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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2020
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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
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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
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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
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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
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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
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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
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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
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2019
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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
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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
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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
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