Publications by authors named "Amelie Piton"

56Publications

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 Aug 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.

Biochem Soc Trans 2020 06;48(3):1199-1211

Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge CB2 1QW, U.K.

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http://dx.doi.org/10.1042/BST20200109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329352PMC
June 2020

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.

Am J Hum Genet 2020 04 19;106(4):438-452. Epub 2020 Mar 19.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118572PMC
April 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

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

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

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

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