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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2015
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Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family
- Ozlem Okutman
- Jean Muller
- Yoni Baert
- Munevver Serdarogullari
- Meral Gultomruk
- Amélie Piton
- Charlotte Rombaut
- Moncef Benkhalifa
- Marius Teletin
- Valerie Skory
- Emre Bakircioglu
- Ellen Goossens
- Mustafa Bahceci
- Stéphane Viville
Human Molecular Genetics ; Volume: 24 ; Page: 5581--5588
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2014
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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
- Claire Redin
- Bénédicte Gérard
- Julia Lauer
- Yvan Herenger
- Jean Muller
- Angélique Quartier
- Alice Masurel-Paulet
- Marjolaine Willems
- Gaétan Lesca
- Salima El-Chehadeh
- Stéphanie Le Gras
- Serge Vicaire
- Muriel Philipps
- Michaël Dumas
- Véronique Geoffroy
- Claire Feger
- Nicolas Haumesser
- Yves Alembik
- Magalie Barth
- Dominique Bonneau
- ...
Journal of Medical Genetics ; Volume: 51 ; Page: 724-736
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2013
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20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
- Amélie Piton
- Hélène Poquet
- Claire Redin
- Alice Masurel
- Julia Lauer
- Jean Muller
- Julien Thevenon
- Yvan Herenger
- Sophie Chancenotte
- Marlène Bonnet
- Jean-Michel Pinoit
- Frédéric Huet
- Christel Thauvin-Robinet
- Anne-Sophie Jaeger
- Stéphanie Le Gras
- Bernard Jost
- Bénédicte Gerard
- Katell Peoc'H
- Jean-Marie Launay
- Laurence Faivre
- ...
European Journal of Human Genetics ; Volume: 22 ; Page: 776-783
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XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
- Amélie Piton
- Claire Redin
- Jean‐louis Mandel
American Journal of Human Genetics ; Volume: 93 ; Page: 368-383
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