Stylianos E. Antonarakis 个人学术档案

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	总计	2019 年至今
引用	139870	37817
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Hamish S ScottCenter of Cancer Biology在 sa.gov.au 的电子邮件经过验证
Emmanouil Dermitzakis, Manolis Der...VP Computational Biology, GSK在 gsk.com 的电子邮件经过验证
Federico SantoniUniversity Hospital of Lausanne在 chuv.ch 的电子邮件经过验证
Periklis MakrythanasisNational and Kapodistrian University of Athens在 med.uoa.gr 的电子邮件经过验证
Stuart Orkin在 dfci.harvard.edu 的电子邮件经过验证
Pärt PetersonProfessor of Molecular Immunology, University of Tartu, Estonia在 ut.ee 的电子邮件经过验证
Roderic GuigoProfessor of Bioinformatics, Center for Genomic Regulation, Universitat Pompeu Fabra在 crg.cat 的电子邮件经过验证
Melvin G McinnisProfessor of Psychiatry, University of Michigan在 umich.edu 的电子邮件经过验证
Sergey NikolaevGustave Roussy在 gustaveroussy.fr 的电子邮件经过验证
Dimitri AvramopoulosMcKusick Nathans Institute of Genetic Medicine, Johns Hopkins University在 jhmi.edu 的电子邮件经过验证
Xavier Estivill MD PhDqGenomics (Quantitative Genomics Laboratories)在 qgenomics.com 的电子邮件经过验证
Jacques S BeckmannProf emeritus, UNIL在 unil.ch 的电子邮件经过验证
Konstantin PopadinÉcole polytechnique fédérale de Lausanne, Switzerland在 epfl.ch 的电子邮件经过验证
Alan F. ScottAssoc Professor of Medicine, Institute of Genetic Medicine, Johns Hopkins University在 jhmi.edu 的电子邮件经过验证
Stephen B MontgomeryProfessor, Pathology, Genetics and Biomedical Data Science, Stanford University在 stanford.edu 的电子邮件经过验证
Roman ChrastEPFL在 epfl.ch 的电子邮件经过验证
Cédric HowaldHealth2030 Genome Center在 health2030.ch 的电子邮件经过验证
Andrew J. SharpIcahn School of Medicine at Mount Sinai在 mssm.edu 的电子邮件经过验证
Dierssen MaraCenter for Genomic Regulation在 crg.eu 的电子邮件经过验证
Edward TuddenhamEmeritus Professor of Haemophilia, University College London在 ucl.ac.uk 的电子邮件经过验证

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Stylianos E. Antonarakis

Professor of Genetic Medicine, University of Geneva Medical School

在 unige.ch 的电子邮件经过验证

Genetics Genomics Genetic/Genomic Medicine


标题按引用次数排序按年份排序按标题排序	引用次数引用次数	年份
An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57, 2012	14025	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	8578	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	6032	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	5547	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	2920	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	2380	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	2067	2013
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion JT Dunnen, SE Antonarakis Human mutation 15 (1), 7-12, 2000	2028	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	1921	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	1649	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	1536	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	1505	2007
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	1503	2016
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	1468	2003
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	1401	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	1392	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	1162	2009
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	1138	1993
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	1137	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	1118	1992

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