Amelie PITON
Amelie PITON
MCU-PH Lab of Genetic diagnosis CHU Strasbourg, Researcher at IGBMC
Adresse e-mail validée de igbmc.fr
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Expression of cytochromes P450, conjugating enzymes and nuclear receptors in human hepatoma HepaRG cells
C Aninat, A Piton, D Glaise, T Le Charpentier, S Langouët, F Morel, ...
Drug Metabolism and Disposition 34 (1), 75-83, 2006
6322006
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
J Gauthier, N Champagne, RG Lafrenière, L Xiong, D Spiegelman, ...
Proceedings of the National Academy of Sciences 107 (17), 7863-7868, 2010
3622010
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability
FF Hamdan, J Gauthier, Y Araki, DT Lin, Y Yoshizawa, K Higashi, AR Park, ...
The American Journal of Human Genetics 88 (3), 306-316, 2011
3152011
Novel de novo SHANK3 mutation in autistic patients
J Gauthier, D Spiegelman, A Piton, RG Lafreniere, S Laurent, J St‐Onge, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 150 …, 2009
3122009
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
A Piton, J Gauthier, FF Hamdan, RG Lafreniere, Y Yang, E Henrion, ...
Molecular psychiatry 16 (8), 867-880, 2011
2522011
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts
P Awadalla, J Gauthier, RA Myers, F Casals, FF Hamdan, AR Griffing, ...
The American Journal of Human Genetics 87 (3), 316-324, 2010
2512010
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
A Piton, C Redin, JL Mandel
The American Journal of Human Genetics 93 (2), 368-383, 2013
2202013
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ...
Journal of medical genetics 51 (11), 724-736, 2014
2052014
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment
FF Hamdan, H Daoud, D Rochefort, A Piton, J Gauthier, M Langlois, ...
The American Journal of Human Genetics 87 (5), 671-678, 2010
1982010
Disruption at the PTCHD1 Locus on Xp22. 11 in Autism spectrum disorder and intellectual disability
A Noor, A Whibley, CR Marshall, PJ Gianakopoulos, A Piton, AR Carson, ...
Science translational medicine 2 (49), 49ra68-49ra68, 2010
1942010
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia
J Tarabeux, O Kebir, J Gauthier, FF Hamdan, L Xiong, A Piton, ...
Translational psychiatry 1 (11), e55-e55, 2011
1822011
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
A Piton, JL Michaud, H Peng, S Aradhya, J Gauthier, L Mottron, ...
Human molecular genetics 17 (24), 3965-3974, 2008
1812008
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
A Fassio, L Patry, S Congia, F Onofri, A Piton, J Gauthier, D Pozzi, ...
Human molecular genetics 20 (12), 2297-2307, 2011
1772011
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism
FF Hamdan, H Daoud, A Piton, J Gauthier, S Dobrzeniecka, MO Krebs, ...
Biological psychiatry 69 (9), 898-901, 2011
1662011
Gene and protein characterization of the human glutathione S-transferase kappa and evidence for a peroxisomal localization
F Morel, C Rauch, E Petit, A Piton, N Theret, B Coles, A Guillouzo
Journal of Biological Chemistry 279 (16), 16246-16253, 2004
1652004
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
FF Hamdan, A Piton, J Gauthier, A Lortie, F Dubeau, S Dobrzeniecka, ...
Annals of Neurology: Official Journal of the American Neurological …, 2009
1572009
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
HAF Stessman, MH Willemsen, M Fenckova, O Penn, A Hoischen, ...
The American Journal of Human Genetics 98 (3), 541-552, 2016
1002016
Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy
JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ...
Neurology 86 (23), 2171-2178, 2016
942016
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders
AM Addington, J Gauthier, A Piton, FF Hamdan, A Raymond, N Gogtay, ...
Molecular psychiatry 16 (3), 238-239, 2011
932011
A population genetic approach to mapping neurological disorder genes using deep resequencing
RA Myers, F Casals, J Gauthier, FF Hamdan, J Keebler, AR Boyko, ...
PLoS Genet 7 (2), e1001318, 2011
842011
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