Michel Guipponi

Michel Guipponi

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Michel Guipponi

Michel Guipponi

Publications by authors named "Michel Guipponi"

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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.

Pediatr Diabetes 2019 05 17;20(3):366-369. Epub 2019 Feb 17.

Pediatric Endocrine and Diabetes Unit, Department of Pediatrics, University Hospitals of Geneva, Geneva, Switzerland.

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http://doi.wiley.com/10.1111/pedi.12814
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http://dx.doi.org/10.1111/pedi.12814DOI Listing
May 2019

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Am J Hum Genet 2018 10;103(4):568-578

Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174361PMC
October 2018

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Am J Med Genet A 2017 Sep 20;173(9):2456-2460. Epub 2017 Jun 20.

Pediatric Neurology Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.38317
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http://dx.doi.org/10.1002/ajmg.a.38317DOI Listing
September 2017

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.

PLoS One 2015 28;10(8):e0135555. Epub 2015 Aug 28.

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; National Center of Competence in Research Frontiers in Genetics Program, University of Geneva, Geneva, Switzerland; iGE3 institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135555PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552626PMC
May 2016

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells.

PLoS One 2015 8;10(5):e0126475. Epub 2015 May 8.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; University Hospitals of Geneva, Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0126475PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425456PMC
April 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Am J Hum Genet 2016 Apr 17;98(4):615-26. Epub 2016 Mar 17.

Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833197PMC
April 2016

Familial epilepsy in Algeria: Clinical features and inheritance profiles.

Seizure 2015 Sep 3;31:12-8. Epub 2015 Jul 3.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Department of Genetic Medicine and Laboratory, University Hospitals of Geneva, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311150016
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http://dx.doi.org/10.1016/j.seizure.2015.06.015DOI Listing
September 2015

Galanin pathogenic mutations in temporal lobe epilepsy.

Hum Mol Genet 2015 Jun 17;24(11):3082-91. Epub 2015 Feb 17.

Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddv060DOI Listing
June 2015

Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21.

Stem Cells 2015 May;33(5):1434-46

Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Geneva, Switzerland; Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.

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http://dx.doi.org/10.1002/stem.1961DOI Listing
May 2015

Biased allelic expression in human primary fibroblast single cells.

Am J Hum Genet 2015 Jan 31;96(1):70-80. Epub 2014 Dec 31.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289680PMC
January 2015

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

PLoS Genet 2015 Jan 29;11(1):e1004958. Epub 2015 Jan 29.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland; Swiss Institute of Bioinformatics (SIB), Geneva, Switzerland; Center of Excellence in Genomic Medicine Research, KingAbdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1371/journal.pgen.1004958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310612PMC
January 2015

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.

Bone 2014 Nov 30;68:142-5. Epub 2014 Aug 30.

Département d'Endocrinologie, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2014.08.014DOI Listing
November 2014

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

Nat Commun 2014 Aug 8;5:4654. Epub 2014 Aug 8.

1] Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, Geneva 1211, Switzerland [2] IGE3 institute of Genetics and Genomics of Geneva, 1 rue Michel Servet, Geneva 1211, Switzerland [3].

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http://dx.doi.org/10.1038/ncomms5654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665216PMC
August 2014

Next generation diagnostics on cardiomyopathy.

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I4. Epub 2014 Jan 21.

Genetic Medicine, University Hospitals of Geneva, Switzerland.

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http://dx.doi.org/10.1186/1755-8166-7-S1-I4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044414PMC
June 2014

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

Genome Res 2014 Feb 3;24(2):349-55. Epub 2014 Jan 3.

Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva 4, Switzerland;

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http://dx.doi.org/10.1101/gr.163832.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912425PMC
February 2014

Genetic susceptibility for bipolar disorder and response to antidepressants in major depressive disorder.

Am J Med Genet B Neuropsychiatr Genet 2014 Jan 8;165B(1):77-83. Epub 2013 Nov 8.

Institute of Psychiatry, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.b.32210DOI Listing
January 2014

Passive and active DNA methylation and the interplay with genetic variation in gene regulation.

Elife 2013 Jun 4;2:e00523. Epub 2013 Jun 4.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, Geneva, Switzerland [corrected]; Swiss Institute of Bioinformatics, Geneva, Switzerland.

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http://dx.doi.org/10.7554/eLife.00523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673336PMC
June 2013

A mega-analysis of genome-wide association studies for major depressive disorder.

Authors:
Stephan Ripke Naomi R Wray Cathryn M Lewis Steven P Hamilton Myrna M Weissman Gerome Breen Enda M Byrne Douglas H R Blackwood Dorret I Boomsma Sven Cichon Andrew C Heath Florian Holsboer Susanne Lucae Pamela A F Madden Nicholas G Martin Peter McGuffin Pierandrea Muglia Markus M Noethen Brenda P Penninx Michele L Pergadia James B Potash Marcella Rietschel Danyu Lin Bertram Müller-Myhsok Jianxin Shi Stacy Steinberg Hans J Grabe Paul Lichtenstein Patrik Magnusson Roy H Perlis Martin Preisig Jordan W Smoller Kari Stefansson Rudolf Uher Zoltan Kutalik Katherine E Tansey Alexander Teumer Alexander Viktorin Michael R Barnes Thomas Bettecken Elisabeth B Binder René Breuer Victor M Castro Susanne E Churchill William H Coryell Nick Craddock Ian W Craig Darina Czamara Eco J De Geus Franziska Degenhardt Anne E Farmer Maurizio Fava Josef Frank Vivian S Gainer Patience J Gallagher Scott D Gordon Sergey Goryachev Magdalena Gross Michel Guipponi Anjali K Henders Stefan Herms Ian B Hickie Susanne Hoefels Witte Hoogendijk Jouke Jan Hottenga Dan V Iosifescu Marcus Ising Ian Jones Lisa Jones Tzeng Jung-Ying James A Knowles Isaac S Kohane Martin A Kohli Ania Korszun Mikael Landen William B Lawson Glyn Lewis Donald Macintyre Wolfgang Maier Manuel Mattheisen Patrick J McGrath Andrew McIntosh Alan McLean Christel M Middeldorp Lefkos Middleton Grant M Montgomery Shawn N Murphy Matthias Nauck Willem A Nolen Dale R Nyholt Michael O'Donovan Högni Oskarsson Nancy Pedersen William A Scheftner Andrea Schulz Thomas G Schulze Stanley I Shyn Engilbert Sigurdsson Susan L Slager Johannes H Smit Hreinn Stefansson Michael Steffens Thorgeir Thorgeirsson Federica Tozzi Jens Treutlein Manfred Uhr Edwin J C G van den Oord Gerard Van Grootheest Henry Völzke Jeffrey B Weilburg Gonneke Willemsen Frans G Zitman Benjamin Neale Mark Daly Douglas F Levinson Patrick F Sullivan

Mol Psychiatry 2013 Apr 3;18(4):497-511. Epub 2012 Apr 3.

Harvard University/Broad Institute, USA.

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http://dx.doi.org/10.1038/mp.2012.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3837431PMC
April 2013

Contribution of common genetic variants to antidepressant response.

Biol Psychiatry 2013 Apr 11;73(7):679-82. Epub 2012 Dec 11.

Institute of Psychiatry, King's College London, London, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S00063223120097
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http://dx.doi.org/10.1016/j.biopsych.2012.10.030DOI Listing
April 2013

Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.

Hum Mol Genet 2013 Apr 18;22(7):1289-99. Epub 2012 Dec 18.

SysDiag UMR 3145 CNRS/Bio-Rad, Cap Delta/Parc Euromédecine, 1682 rue de la Valsière, Cedex 4,Montpellier, France.

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http://dx.doi.org/10.1093/hmg/dds532DOI Listing
April 2013

TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm.

Retrovirology 2013 Feb 15;10:20. Epub 2013 Feb 15.

Department of Microbiology and Molecular Medicine, University of Geneva, 1205, Geneva, Switzerland.

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http://dx.doi.org/10.1186/1742-4690-10-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599327PMC
February 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice.

Neuroreport 2010 Sep;21(13):897-901

The Bionic Ear Institute, University of Melbourne, East Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1097/WNR.0b013e32833dbd2dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2950264PMC
September 2010

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family.

Epilepsy Res 2010 Jun 7;90(1-2):33-8. Epub 2010 Apr 7.

Department of Physiology, Faculty of Medicine, Monastir, Tunisia.

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http://dx.doi.org/10.1016/j.eplepsyres.2010.03.004DOI Listing
June 2010

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family.

Epilepsy Res 2010 Jun 7;90(1-2):33-8. Epub 2010 Apr 7.

Department of Physiology, Faculty of Medicine, Monastir, Tunisia.

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http://dx.doi.org/10.1016/j.eplepsyres.2010.03.004DOI Listing
June 2010

SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology.

J Mol Neurosci 2010 May 2;41(1):172-82. Epub 2009 Dec 2.

Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3050, Australia.

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http://dx.doi.org/10.1007/s12031-009-9317-1DOI Listing
May 2010

Prevalence and heritability of compulsive hoarding: a twin study.

Am J Psychiatry 2009 Oct 17;166(10):1156-61. Epub 2009 Aug 17.

Department of Psychology, King's College London, Institute of Psychiatry, London SE5 8AF, UK.

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http://psychiatryonline.org/doi/abs/10.1176/appi.ajp.2009.08
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http://dx.doi.org/10.1176/appi.ajp.2009.08121789DOI Listing
October 2009

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

Front Biosci 2008 Jan 1;13:1557-67. Epub 2008 Jan 1.

Division of Medical Genetics, University Hospital of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.2741/2780DOI Listing
January 2008

Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss.

Am J Pathol 2007 Aug 9;171(2):608-16. Epub 2007 Jul 9.

Molecular Medicine Division, The Walter and Eliza Hall Institute of Medical Research, Victoria, Australia.

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http://dx.doi.org/10.2353/ajpath.2007.070068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1934525PMC
August 2007

Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput.

Biotechniques 2005 Jul;39(1):34, 36, 38, 40

Genetics and Bioinformatics, The Walter & Eliza Hall Institute, Parkville, VIC, Australia.

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https://www.future-science.com/doi/10.2144/05391BM02
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http://dx.doi.org/10.2144/05391BM02DOI Listing
July 2005

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.

Gene 2003 Nov;320:31-40

Division of Medical Genetics, Centre Médical Universitaire, University of Geneva Medical School, 1 rue Michel-Servet, CH-1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1016/s0378-1119(03)00830-8DOI Listing
November 2003

Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling.

Biochim Biophys Acta 2003 Apr;1640(1):61-8

Department of Pharmacology and Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7295, USA.

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http://dx.doi.org/10.1016/s0167-4889(03)00002-8DOI Listing
April 2003

Identification of additional transcripts in the Williams-Beuren syndrome critical region.

Hum Genet 2002 May 28;110(5):429-38. Epub 2002 Mar 28.

Division of Medical Genetics, University of Geneva Medical School, CMU, 1 Rue Michel Servet, 1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1007/s00439-002-0710-xDOI Listing
May 2002