Stylianos E. Antonarakis

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	전체	2020년 이후
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Hamish S ScottCenter of Cancer Biologysa.gov.au의 이메일 확인됨
Federico SantoniUniversity Hospital of Lausannechuv.ch의 이메일 확인됨
Periklis MakrythanasisNational and Kapodistrian University of Athensmed.uoa.gr의 이메일 확인됨
Stuart Orkindfci.harvard.edu의 이메일 확인됨
Pärt PetersonProfessor of Molecular Immunology, University of Tartu, Estoniaut.ee의 이메일 확인됨
Roderic GuigoProfessor of Bioinformatics, Center for Genomic Regulation, Universitat Pompeu Fabracrg.cat의 이메일 확인됨
Melvin G McinnisProfessor of Psychiatry, University of Michiganumich.edu의 이메일 확인됨
Sergey NikolaevGustave Roussygustaveroussy.fr의 이메일 확인됨
Dimitri AvramopoulosMcKusick Nathans Department of Genetic Medicine, Johns Hopkins Universityjhmi.edu의 이메일 확인됨
Xavier Estivill MD PhDqGenomics (Quantitative Genomics Laboratories)qgenomics.com의 이메일 확인됨
Jacques S BeckmannProf emeritus, UNILunil.ch의 이메일 확인됨
Konstantin PopadinÉcole polytechnique fédérale de Lausanne, Switzerlandepfl.ch의 이메일 확인됨
Alan F. ScottAssoc Professor of Medicine, Institute of Genetic Medicine, Johns Hopkins Universityjhmi.edu의 이메일 확인됨
Stephen B MontgomeryProfessor, Pathology, Genetics and Biomedical Data Science, Stanford Universitystanford.edu의 이메일 확인됨
Roman ChrastEPFLepfl.ch의 이메일 확인됨
Cédric HowaldHealth2030 Genome Centerhealth2030.ch의 이메일 확인됨
Andrew J. SharpIcahn School of Medicine at Mount Sinaimssm.edu의 이메일 확인됨
Dierssen MaraCenter for Genomic Regulationcrg.eu의 이메일 확인됨
Edward TuddenhamEmeritus Professor of Haemophilia, University College Londonucl.ac.uk의 이메일 확인됨
Philipp BucherGroup leader in Bioinformatics, EPFL and Swiss Institute of Bioinformatics, Lausanneepfl.ch의 이메일 확인됨

팔로우

Stylianos E. Antonarakis

Professor of Genetic Medicine, University of Geneva Medical School

unige.ch의 이메일 확인됨

Genetics Genomics Genetic/Genomic Medicine


제목 서지정보순 정렬 연도순 정렬 제목순 정렬	인용 인용	연도
An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature 489 (7414), 57, 2012	17368	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	8755	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	6125	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	5798	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	2534	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	2457	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	2128	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	1674	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	1625	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	1565	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	1538	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	1492	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	1452	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	1451	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	1168	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	1166	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
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	1129	1992

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