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Stylianos E. Antonarakis
Stylianos E. Antonarakis
Professor of Genetic Medicine, University of Geneva Medical School
Zweryfikowany adres z unige.ch
Tytuł
Cytowane przez
Cytowane przez
Rok
An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium
Nature 489 (7414), 57, 2012
175882012
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
87212002
Mendelian inheritance in man
VA McKusick, CA Francomano, SE Antonarakis
Johns Hopkins University Press 2, 1580, 1992
64421992
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
61242007
Landscape of transcription in human cells
S Djebali, CA Davis, A Merkel, A Dobin, T Lassmann, A Mortazavi, ...
Nature 489 (7414), 101-108, 2012
58272012
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
29712004
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
26392022
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
24602004
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
21282013
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
JT Dunnen, SE Antonarakis
Human mutation 15 (1), 7-12, 2000
20502000
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
16681997
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
16592016
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
15782000
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
15422007
A user's guide to the encyclopedia of DNA elements (ENCODE)
ENCODE Project Consortium
PLoS biology 9 (4), e1001046, 2011
14992011
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
14862003
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
14512014
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
14481991
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
11671993
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
11642009
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