Amelie Piton

Amelie Piton

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Amelie Piton

Amelie Piton

Publications by authors named "Amelie Piton"

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Am J Hum Genet 2019 Sep 15;105(3):509-525. Epub 2019 Aug 15.

Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731366PMC
September 2019

AnnotSV: an integrated tool for structural variations annotation.

Bioinformatics 2018 10;34(20):3572-3574

Laboratoire de Génétique Médicale, UMR_S INSERM U1112, IGMA, Faculté de Médecine FMTS, Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1093/bioinformatics/bty304DOI Listing
October 2018

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder.

Biol Psychiatry 2018 08 9;84(4):239-252. Epub 2018 Jan 9.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France; Université de Strasbourg, Illkirch, France; Laboratory of Genetic Diagnostics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2018.01.002DOI Listing
August 2018

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Am J Hum Genet 2017 Jan 8;100(1):105-116. Epub 2016 Dec 8.

Institut de Genetique et de Biologie Moleculaire et Cellulaire, 67400 Illkirch-Graffenstaden, France; INSERM U964, 67400 Illkirch-Graffenstaden, France; CNRS UMR 7104, 67400 Illkirch-Graffenstaden, France; Université de Strasbourg, 67400 Illkirch, France; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223023PMC
January 2017

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

Am J Med Genet A 2016 06 7;170(6):1626-9. Epub 2016 Apr 7.

Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.37645DOI Listing
June 2016

Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.

Hum Mol Genet 2015 Oct 21;24(19):5581-8. Epub 2015 Jul 21.

Département Génomique fonctionnelle et cancer and Centre Hospitalier Universitaire, 67000 Strasbourg, France,

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http://dx.doi.org/10.1093/hmg/ddv290DOI Listing
October 2015

VaRank: a simple and powerful tool for ranking genetic variants.

PeerJ 2015 3;3:e796. Epub 2015 Mar 3.

IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg , Illkirch Cedex , France ; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg , Strasbourg Cedex , France ; Laboratoire ICUBE, UMR CNRS 7357, LBGI, Université de Strasbourg , Strasbourg , France.

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http://dx.doi.org/10.7717/peerj.796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4358652PMC
March 2015

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

Eur J Hum Genet 2014 Jun 30;22(6):776-83. Epub 2013 Oct 30.

1] IGBMC, CNRS UMR 7104/INSERM U964/University of Strasbourg, Illkirch Cedex, France [2] Chaire de Génétique Humaine, Collège de France, Paris, France [3] Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2013.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023218PMC
June 2014

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Am J Hum Genet 2013 Aug 18;93(2):368-83. Epub 2013 Jul 18.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7104, Institut National de la Santé et de la Recherche Médicale Unité 964, University of Strasbourg, 67404 Illkirch Cedex, France; Chaire de Génétique Humaine, Collège de France, 75231 Paris Cedex 05, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738825PMC
August 2013

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

Eur J Hum Genet 2013 Jul 21;21(7):749-56. Epub 2012 Nov 21.

Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal, CRCHUM Notre-Dame Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/ejhg.2012.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722945PMC
July 2013

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Biol Psychiatry 2011 May 15;69(9):898-901. Epub 2011 Jan 15.

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease, S2D, Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Montréal, Canada.

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http://dx.doi.org/10.1016/j.biopsych.2010.11.015DOI Listing
May 2011

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Biol Psychiatry 2010 Oct 19;68(7):649-56. Epub 2010 Jun 19.

Department of Medicine, Center of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montreal Research Center, University of Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.biopsych.2010.04.018DOI Listing
October 2010

Involvement of pregnane X receptor in the regulation of CYP2B6 gene expression by oltipraz in human hepatocytes.

Toxicol In Vitro 2010 Mar 12;24(2):452-9. Epub 2009 Oct 12.

INSERM U620, Université de Rennes 1, F-35043, France.

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http://dx.doi.org/10.1016/j.tiv.2009.09.025DOI Listing
March 2010

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Ann Neurol 2009 Jun;65(6):748-53

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ana.21625DOI Listing
June 2009

Novel de novo SHANK3 mutation in autistic patients.

Am J Med Genet B Neuropsychiatr Genet 2009 Apr;150B(3):421-4

Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Notre-Dame Hospital, Université de Montréal, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ajmg.b.30822DOI Listing
April 2009

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Hum Mol Genet 2008 Dec 18;17(24):3965-74. Epub 2008 Sep 18.

Centre for Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Montreal, QC, Canada H2L 4M1.

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http://dx.doi.org/10.1093/hmg/ddn300DOI Listing
December 2008

Expression of cytochromes P450, conjugating enzymes and nuclear receptors in human hepatoma HepaRG cells.

Drug Metab Dispos 2006 Jan 4;34(1):75-83. Epub 2005 Oct 4.

Institut National de la Santé et de la Recherche Médicale (INSERM) U620, Université de Rennes 1, France.

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http://dx.doi.org/10.1124/dmd.105.006759DOI Listing
January 2006

Oltipraz regulates different categories of genes relevant to chemoprevention in human hepatocytes.

Carcinogenesis 2005 Feb 21;26(2):343-51. Epub 2004 Oct 21.

INSERM U620, Faculté des Sciences Pharmaceutiques et Biologiques, Université de Rennes I, 35043 Rennes, France.

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http://dx.doi.org/10.1093/carcin/bgh316DOI Listing
February 2005

Gene and protein characterization of the human glutathione S-transferase kappa and evidence for a peroxisomal localization.

J Biol Chem 2004 Apr 23;279(16):16246-53. Epub 2004 Jan 23.

INSERM U456, Université de Rennes I, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France.

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http://dx.doi.org/10.1074/jbc.M313357200DOI Listing
April 2004