Génétique et physiopathologie de maladies neurodéveloppementales
Chefs d'équipe : Hervé MOINE , Amelie PITON
Département : Médecine translationnelle et neurogénétique
Amelie PITON
Chercheuse
piton@igbmc.fr
Équipe(s)
Sous-groupe(s)
Publications
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2017
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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
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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
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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
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2016
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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
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Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism
- Francesca Mattioli
- Amélie Piton
- Bénédicte Gerard
- Andrea Superti-Furga
- Jean-Louis Mandel
- Sheila Unger
Am J Med Genet A ; Volume: 170 ; Page: 1626-9
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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
- B. Schonewolf-Greulich
- M. I. Tejada
- K. Stephens
- K. Hadzsiev
- J. Gauthier
- K. Brondum-Nielsen
- R. Pfundt
- K. Ravn
- H. Maortua
- B. Gener
- C. Martinez-Bouzas
- Amélie Piton
- G. Rouleau
- J. Clayton-Smith
- T. Kleefstra
- A. M. Bisgaard
- Z. Tumer
Clinical Genetics ; Volume: 89 ; Page: 733-8
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
- Holly a.F. Stessman
- Marjolein h. Willemsen
- Michael Fenckova
- Osnat Penn
- Alexander Hoischen
- Bo Xiong
- Tianyun Wang
- Kendra Hoekzema
- Laura Vives
- Ida Vogel
- Han g. Brunner
- Ineke Van der burgt
- Charlotte W. Ockeloen
- Janneke H. Schuurs-Hoeijmakers
- Jolien s. Klein wassink-Ruiter
- Connie Stumpel
- Servi j.C. Stevens
- Hans Vles
- Carlo M. Marcelis
- Hans Van bokhoven
- ...
American Journal of Human Genetics ; Volume: 98 ; Page: 541 - 552
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability
- Bertrand Isidor
- Sébastien Küry
- Jill A. Rosenfeld
- Thomas Besnard
- Sébastien Schmitt
- Shelagh Joss
- Sally J. Davies
- Robert Roger Lebel
- Alex Henderson
- Christian P. Schaaf
- Haley E. Streff
- Yaping Yang
- Vani Jain
- Nodoka Chida
- Xenia Latypova
- Cédric Le Caignec
- Benjamin Cogné
- Sandra Mercier
- Marie Vincent
- Estelle Colin
- ...
Human Mutation ; Volume: 37 ; Page: 354–358
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2015
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VaRank: a simple and powerful tool for ranking genetic variants
- Véronique Geoffroy
- Cécile Pizot
- Claire Redin
- Amélie Piton
- Nasim Vasli
- Corinne Stoetzel
- André Blavier
- Jocelyn Laporte
- Jean Muller
PeerJ ; Volume: 3 ; Page: e796
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
- Lucas M Bronicki
- Claire Redin
- Severine Drunat
- Amélie Piton
- Michael Lyons
- Sandrine Passemard
- Clarisse Baumann
- Laurence Faivre
- Julien Thevenon
- Jean-Baptiste Rivière
- Bertrand Isidor
- Grace Gan
- Christine Francannet
- Marjolaine Willems
- Murat Gunel
- Julie R Jones
- Joseph G Gleeson
- Jean-Louis Mandel
- Roger E Stevenson
- Michael J Friez
- ...
European Journal of Human Genetics ; Volume: 23 ; Page: 1482--1487
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