Stylianos E Antonarakis

Stylianos E Antonarakis

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Stylianos E Antonarakis

Stylianos E Antonarakis

Publications by authors named "Stylianos E Antonarakis"

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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Am J Hum Genet 2019 Nov 10;105(5):907-920. Epub 2019 Oct 10.

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

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http://dx.doi.org/10.1016/j.ajhg.2019.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848997PMC
November 2019

Carrier screening for recessive disorders.

Nat Rev Genet 2019 Sep;20(9):549-561

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.1038/s41576-019-0134-2DOI Listing
September 2019

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Am J Hum Genet 2019 Jun 9;104(6):1073-1087. Epub 2019 May 9.

Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556908PMC
June 2019

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.

Proc Natl Acad Sci U S A 2018 12 3;115(51):13015-13020. Epub 2018 Dec 3.

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

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http://www.pnas.org/lookup/doi/10.1073/pnas.1806811115
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http://dx.doi.org/10.1073/pnas.1806811115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304968PMC
December 2018

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

Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.

Cell Rep 2018 06;23(10):2967-2975

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040810PMC
June 2018

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing.

Cell Rep 2018 02;22(6):1589-1599

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

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http://dx.doi.org/10.1016/j.celrep.2018.01.043DOI Listing
February 2018

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain.

N Engl J Med 2018 01 3;378(3):250-261. Epub 2018 Jan 3.

From the Department of Genetic Medicine and Development, University of Geneva Medical School (S.I.N., X.B., S.E.A.), Service of Genetic Medicine, University Hospitals of Geneva (S.I.N., S.E.A.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.) - all in Geneva; the Department of Fundamental Neurobiology, Krembil Research Institute (S.V., M.T., I.R.), Toronto General Hospital Research Institute (E.B., N.K., P.V.D., J.E.F.), the Department of Pathology (T.-R.K.), the Division of Neurosurgery, Department of Surgery (V.M.P., T.K., H.A.-B., T.T., T.V., G.Z., M.T., I.R.), and the Joint Division of Medical Imaging, Department of Medical Imaging (V.M.P., T.K.), Toronto Western Hospital, University Health Network, the Department of Laboratory Medicine and Pathobiology, University of Toronto (E.B., N.K., P.V.D., T.-R.K., J.E.F.), and the Heart and Stroke Richard Lewar Centre of Excellence in Cardiovascular Research (E.B., N.K., P.V.D., J.E.F.) - all in Toronto; the Department of Molecular Medicine, AIV Institute, University of Eastern Finland (S.J., B.R.J., S.S., S.Y.-H., J.F.), and the Hemorrhagic Brain Pathology Research Group, Department of Neurosurgery and NeuroCenter (S.J., B.R.J., S.S., T.R., J.F.), and the Department of Pathology (T.R.), Kuopio University Hospital - all in Kuopio, Finland; and the Cardiovascular Research Institute and the Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston (A.M.H., J.D.W.).

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http://dx.doi.org/10.1056/NEJMoa1709449DOI Listing
January 2018

The effect of genetic variation on promoter usage and enhancer activity.

Nat Commun 2017 11 7;8(1):1358. Epub 2017 Nov 7.

Department of Genetic Medicine and Development, University of Geneva, 1 Michel Servet, Geneva, CH1211, Switzerland.

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http://dx.doi.org/10.1038/s41467-017-01467-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677018PMC
November 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

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

Genomic databases: A WHO affair.

Science 2017 May;356(6340):812-813

University of Geneva Medical School, Geneva 1211, Switzerland.

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http://dx.doi.org/10.1126/science.aan4717DOI Listing
May 2017

Down syndrome and the complexity of genome dosage imbalance.

Nat Rev Genet 2017 03 28;18(3):147-163. Epub 2016 Dec 28.

Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel-Servet, 1211 Geneva, Switzerland.

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http://dx.doi.org/10.1038/nrg.2016.154DOI Listing
March 2017

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.

Am J Hum Genet 2017 Mar 9;100(3):444-453. Epub 2017 Feb 9.

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

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http://dx.doi.org/10.1016/j.ajhg.2017.01.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339288PMC
March 2017

Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.

Cerebellum 2016 12;15(6):829-831

Division of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland.

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http://dx.doi.org/10.1007/s12311-015-0749-6DOI Listing
December 2016

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

Cell 2016 11;167(5):1398-1414.e24

Department of Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Strangeways Research Laboratory, University of Cambridge, Wort's Causeway, Cambridge CB1 8RN, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674163144
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http://dx.doi.org/10.1016/j.cell.2016.10.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119954PMC
November 2016

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

Hum Mutat 2016 06 25;37(6):564-9. Epub 2016 Mar 25.

Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.22981DOI Listing
June 2016

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

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication.

Genome Res 2016 Feb 11;26(2):174-82. Epub 2016 Jan 11.

Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1211 Geneva, Switzerland.

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http://dx.doi.org/10.1101/gr.197046.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728370PMC
February 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

CATCHing putative causative variants in consanguineous families.

BMC Bioinformatics 2015 Sep 28;16:310. Epub 2015 Sep 28.

Department of Genetic Medicine and Development, University of Geneva, Rue Michel Servet 1, Geneva, Switzerland.

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http://dx.doi.org/10.1186/s12859-015-0727-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587650PMC
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

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

PLoS Genet 2015 Mar 24;11(3):e1005062. Epub 2015 Mar 24.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France; Université de Strasbourg, Illkirch, France; Institut Clinique de la Souris, PHENOMIN, GIE CERBM, Illkirch, France.

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http://dx.doi.org/10.1371/journal.pgen.1005062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372517PMC
March 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

Gene age predicts the strength of purifying selection acting on gene expression variation in humans.

Am J Hum Genet 2014 Dec;95(6):660-74

Department of Genetic Medicine and Development, University of Geneva Medical School, 1 Rue Michel-Servet, 1211 Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259975PMC
December 2014

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.

BMC Med Genet 2014 Dec 17;15:135. Epub 2014 Dec 17.

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1186/s12881-014-0135-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411870PMC
December 2014

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Genom Data 2014 Dec 1;2:226-9. Epub 2014 Aug 1.

Stem Cell Research Laboratory, Department of Obstetrics and Gynecology, Geneva University Hospitals, 30 bd de la Cluse, CH-1211 Geneva, Switzerland ; Department of Obstetrics and Gynecology, HFR Fribourg-Hôpital cantonal, Chemin des Pensionnats 2-6, Case postale 1708 Fribourg, Switzerland.

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http://ac.els-cdn.com/S2213596014000646/1-s2.0-S221359601400
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http://linkinghub.elsevier.com/retrieve/pii/S221359601400064
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http://dx.doi.org/10.1016/j.gdata.2014.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535757PMC
December 2014

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

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

Hum Mutat 2014 Aug 28;35(8):959-63. Epub 2014 Jun 28.

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/humu.22597DOI Listing
August 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

Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome.

Genetics 2014 Jul 21;197(3):899-912. Epub 2014 Apr 21.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67404 Illkirch, France Centre National de la Recherche Scientifique, UMR7104, Illkirch, France Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France Université de Strasbourg, 67400 Illkirch, France Institut Clinique de la Souris, PHENOMIN, Groupement d'Intérêt Economique Centre Européen de Recherche en Biologie Moléculaire, 67404 Illkirch, France

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http://dx.doi.org/10.1534/genetics.114.165241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096369PMC
July 2014

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.

Neurology 2014 Jun 9;82(23):2101-6. Epub 2014 May 9.

From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge

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http://dx.doi.org/10.1212/WNL.0000000000000488DOI Listing
June 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

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications.

Stem Cell Res 2014 Mar 28;12(2):323-37. Epub 2013 Nov 28.

Department of Biophysics, Biochemistry and General Pathology, Seconda Università di Napoli, 80138 Napoli, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2013.11.008DOI Listing
March 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

Analysis of the Born in Bradford birth cohort.

Lancet 2014 Jan;383(9912):123

Institute for Biomedical Ethics University of Geneva Medical School, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(14)60019-2DOI Listing
January 2014

Genetic and epigenetic regulation of human lincRNA gene expression.

Am J Hum Genet 2013 Dec 21;93(6):1015-26. Epub 2013 Nov 21.

Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel-Servet, 1211 Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), 1211 Geneva, Switzerland; Institute for Information Transmission Problems (Kharkevich Institute), Russian Academy of Sciences, Moscow 127994, Russia.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852921PMC
December 2013

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome.

Genome Res 2013 Sep 28;23(9):1554-62. Epub 2013 May 28.

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

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http://dx.doi.org/10.1101/gr.150706.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759730PMC
September 2013

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

Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes.

Mol Biol Evol 2013 Feb 14;30(2):347-55. Epub 2012 Sep 14.

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

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http://dx.doi.org/10.1093/molbev/mss219DOI Listing
February 2013

Genomic determinants in the phenotypic variability of Down syndrome.

Prog Brain Res 2012 ;197:15-28

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

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https://linkinghub.elsevier.com/retrieve/pii/B97804445429910
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http://dx.doi.org/10.1016/B978-0-444-54299-1.00002-9DOI Listing
September 2012

Landscape of transcription in human cells.

Nature 2012 Sep;489(7414):101-8

Centre for Genomic Regulation and UPF, Doctor Aiguader 88, Barcelona 08003, Catalonia, Spain.

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http://dx.doi.org/10.1038/nature11233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684276PMC
September 2012

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

Hum Mutat 2012 Aug 15;33(8):1302-9. Epub 2012 Jun 15.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.1002/humu.22115DOI Listing
August 2012

Mouse models for Down syndrome-associated developmental cognitive disabilities.

Dev Neurosci 2011 25;33(5):404-13. Epub 2011 Aug 25.

Children's Guild Foundation Down Syndrome Research Program and Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.

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http://dx.doi.org/10.1159/000329422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3254039PMC
April 2012

Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome.

Psychiatry Res 2012 Apr 27;196(2-3):277-84. Epub 2012 Feb 27.

Department of Psychiatry, University of Geneva School of Medicine, Geneva, Switzerland.

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http://dx.doi.org/10.1016/j.psychres.2011.08.017DOI Listing
April 2012

DNA methylation profiles of human active and inactive X chromosomes.

Genome Res 2011 Oct 23;21(10):1592-600. Epub 2011 Aug 23.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1101/gr.112680.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202277PMC
October 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011