Stylianos E. Antonarakis

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Hamish S ScottCenter of Cancer BiologyVerified email at sa.gov.au
Emmanouil Dermitzakis, Manolis Der...VP Computational Biology, GSKVerified email at gsk.com
Federico SantoniUniversity Hospital of LausanneVerified email at chuv.ch
Periklis MakrythanasisNational and Kapodistrian University of AthensVerified email at med.uoa.gr
Stuart OrkinVerified email at dfci.harvard.edu
Pärt PetersonProfessor of Molecular Immunology, University of Tartu, EstoniaVerified email at ut.ee
Melvin G McinnisProfessor of Psychiatry, University of MichiganVerified email at umich.edu
Roderic GuigoProfessor of Bioinformatics, Center for Genomic Regulation, Universitat Pompeu FabraVerified email at crg.cat
Sergey NikolaevUniveristy of GenevaVerified email at unige.ch
Dimitri AvramopoulosMcKusick Nathans Institute of Genetic Medicine, Johns Hopkins UniversityVerified email at jhmi.edu
Xavier Estivill MD PhDqGenomics (Quantitative Genomics Laboratories)Verified email at qgenomics.com
Jacques S BeckmannProf emeritus, UNILVerified email at unil.ch
Konstantin PopadinÉcole polytechnique fédérale de Lausanne, SwitzerlandVerified email at epfl.ch
Alan F. ScottAssoc Professor of Medicine, Institute of Genetic Medicine, Johns Hopkins UniversityVerified email at jhmi.edu
David N. CooperProfessor of Human Molecular Genetics, Cardiff University, UKVerified email at cardiff.ac.uk
Jennifer HarrowELIXIRVerified email at elixir-europe.org
Gregg L. SemenzaJohns Hopkins UniversityVerified email at jhmi.edu
Roman ChrastEPFLVerified email at epfl.ch
Edward TuddenhamEmeritus Professor of Haemophilia, University College LondonVerified email at ucl.ac.uk
Dierssen MaraCenter for Genomic RegulationVerified email at crg.eu

Stylianos E. Antonarakis

Professor of Genetic Medicine, University of Geneva Medical School

Verified email at unige.ch

Genetics Genomics Genetic/Genomic Medicine


Title Sort by citations Sort by year Sort by title	Cited by Cited by	Year
An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57, 2012	11969	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	7931	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	5698	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	4747	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	2708	2004
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion JT Dunnen, SE Antonarakis Human mutation 15 (1), 7-12, 2000	1963	2000
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	1793	2013
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	1505	1997
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	1460	2000
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	1437	2003
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	1406	2007
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	1232	2014
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	1218	1991
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	1099	2016
Recommendations for a nomenclature system for human gene mutations SE Antonarakis, Nomenclature Working Group Human mutation 11 (1), 1-3, 1998	1089	1998
Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster SH Orkin, HH Kazazian, SE Antonarakis, SC Goff, CD Boehm, JP Sexton, ... Nature 296 (5858), 627-631, 1982	1079	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	1075	1992
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A D Lakich, HH Kazazian, SE Antonarakis, J Gitschier Nature genetics 5 (3), 236-241, 1993	1064	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	1050	2009
Nomenclature for the description of human sequence variations J Den Dunnen, S Antonarakis Human genetics 109 (1), 121-124, 2001	1026	2001

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