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
Roderic GuigoProfessor of Bioinformatics, Center for Genomic Regulation, Universitat Pompeu FabraVerified email at crg.cat
Melvin G McinnisProfessor of Psychiatry, University of MichiganVerified email at umich.edu
Sergey NikolaevGustave RoussyVerified email at gustaveroussy.fr
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
Stephen B MontgomeryProfessor, Pathology, Genetics and Biomedical Data Science, Stanford UniversityVerified email at stanford.edu
Roman ChrastEPFLVerified email at epfl.ch
Cédric HowaldHealth2030 Genome CenterVerified email at health2030.ch
Andrew J. SharpIcahn School of Medicine at Mount SinaiVerified email at mssm.edu
Dierssen MaraCenter for Genomic RegulationVerified email at crg.eu
Edward TuddenhamEmeritus Professor of Haemophilia, University College LondonVerified email at ucl.ac.uk

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	13818	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	8530	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	5994	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	5469	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	2906	2004
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	2361	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	2038	2013
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion JT Dunnen, SE Antonarakis Human mutation 15 (1), 7-12, 2000	2020	2000
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	1743	2022
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	1639	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	1527	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	1497	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	1463	2003
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	1458	2016
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	1382	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	1371	1991
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	1146	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	1134	1982
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	1132	1993
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	1115	1992

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