Stylianos E. Antonarakis

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Hamish S ScottCenter of Cancer BiologyEmail verificata su sa.gov.au
Federico SantoniUniversity Hospital of LausanneEmail verificata su chuv.ch
Periklis MakrythanasisNational and Kapodistrian University of AthensEmail verificata su med.uoa.gr
Stuart OrkinEmail verificata su dfci.harvard.edu
Pärt PetersonProfessor of Molecular Immunology, University of Tartu, EstoniaEmail verificata su ut.ee
Roderic GuigoProfessor of Bioinformatics, Center for Genomic Regulation, Universitat Pompeu FabraEmail verificata su crg.cat
Melvin G McinnisProfessor of Psychiatry, University of MichiganEmail verificata su umich.edu
Sergey NikolaevGustave RoussyEmail verificata su gustaveroussy.fr
Dimitri AvramopoulosMcKusick Nathans Department of Genetic Medicine, Johns Hopkins UniversityEmail verificata su jhmi.edu
Xavier Estivill MD PhDqGenomics (Quantitative Genomics Laboratories)Email verificata su qgenomics.com
Jacques S BeckmannProf emeritus, UNILEmail verificata su unil.ch
Konstantin PopadinÉcole polytechnique fédérale de Lausanne, SwitzerlandEmail verificata su epfl.ch
Alan F. ScottAssoc Professor of Medicine, Institute of Genetic Medicine, Johns Hopkins UniversityEmail verificata su jhmi.edu
Stephen B MontgomeryProfessor, Pathology, Genetics and Biomedical Data Science, Stanford UniversityEmail verificata su stanford.edu
Roman ChrastEPFLEmail verificata su epfl.ch
Cédric HowaldHealth2030 Genome CenterEmail verificata su health2030.ch
Andrew J. SharpIcahn School of Medicine at Mount SinaiEmail verificata su mssm.edu
Dierssen MaraCenter for Genomic RegulationEmail verificata su crg.eu
Edward TuddenhamEmeritus Professor of Haemophilia, University College LondonEmail verificata su ucl.ac.uk
Philipp BucherGroup leader in Bioinformatics, EPFL and Swiss Institute of Bioinformatics, LausanneEmail verificata su epfl.ch

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Stylianos E. Antonarakis

Professor of Genetic Medicine, University of Geneva Medical School

Email verificata su unige.ch

Genetics Genomics Genetic/Genomic Medicine


Titolo Ordina per citazioni Ordina per anno Ordina per titolo	Citata da Citata da	Anno
An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57, 2012	17480	2012
Initial sequencing and comparative analysis of the mouse genome European Bioinformatics Institute: Birney Ewan 3 Goldman Nick 3 Kasprzyk ... Nature 420 (6915), 520-562, 2002	8776	2002
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project Management Group Liefer Laura A. 51 Wetterstrand Kris A. 51 Good Peter J. 51 ... nature 447 (7146), 799-816, 2007	6132	2007
Landscape of transcription in human cells S Djebali, CA Davis, A Merkel, A Dobin, T Lassmann, A Mortazavi, ... Nature 489 (7414), 101-108, 2012	5814	2012
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution Project management: Fulton Lucinda A. 1 Mardis Elaine R. 1 Wilson Richard K. 1 Nature 432 (7018), 695-716, 2004	2965	2004
The complete sequence of a human genome S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze, A Mikheenko, ... Science 376 (6588), 44-53, 2022	2580	2022
The ENCODE (ENCyclopedia of DNA elements) project EA Feingold, PJ Good, MS Guyer, S Kamholz, L Liefer, K Wetterstrand, ... Science 306 (5696), 636-640, 2004	2460	2004
Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013	2132	2013
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion JT Dunnen, SE Antonarakis Human mutation 15 (1), 7-12, 2000	2052	2000
Positional cloning of the APECED gene K Nagamine, P Peterson, HS Scott, J Kudoh, S Minoshima, M Heino, ... Nature genetics 17 (4), 393-398, 1997	1676	1997
HGVS recommendations for the description of sequence variants: 2016 update JT Den Dunnen, R Dalgleish, DR Maglott, RK Hart, MS Greenblatt, ... Human mutation 37 (6), 564-569, 2016	1634	2016
The DNA sequence of human chromosome 21 M Hattori, A Fujiyama, TD Taylor, H Watanabe, T Yada, HS Park, ... Nature 405 (6784), 311-319, 2000	1568	2000
A whole-genome association study of major determinants for host control of HIV-1 J Fellay, KV Shianna, D Ge, S Colombo, B Ledergerber, M Weale, ... science 317 (5840), 944-947, 2007	1540	2007
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia CM Lewis, DF Levinson, LH Wise, LE DeLisi, RE Straub, I Hovatta, ... The American Journal of Human Genetics 73 (1), 34-48, 2003	1494	2003
Hypoxia-inducible nuclear factors bind to an enhancer element located 3'to the human erythropoietin gene. GL Semenza, MK Nejfelt, SM Chi, SE Antonarakis Proceedings of the National Academy of Sciences 88 (13), 5680-5684, 1991	1456	1991
Guidelines for investigating causality of sequence variants in human disease DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ... Nature 508 (7497), 469-476, 2014	1455	2014
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A D Lakich, HH Kazazian Jr, SE Antonarakis, J Gitschier Nature genetics 5 (3), 236-241, 1993	1169	1993
The genome sequence of taurine cattle: a window to ruminant biology and evolution Bovine Genome Sequencing and Analysis Consortium, CG Elsik, ... Science 324 (5926), 522-528, 2009	1167	2009
Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster SH Orkin, HH Kazazian Jr, SE Antonarakis, SC Goff, CD Boehm, ... Nature 296 (5858), 627-631, 1982	1135	1982
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene L Hendriks, CM van Duijn, P Cras, M Cruts, W Van Hul, F van Harskamp, ... Nature genetics 1 (3), 218-221, 1992	1128	1992

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