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Stylianos E. Antonarakis
Stylianos E. Antonarakis
Professor of Genetic Medicine, University of Geneva Medical School
Verified email at unige.ch
Title
Cited by
Cited by
Year
An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium
Nature 489 (7414), 57, 2012
137742012
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
85142002
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
59892007
Landscape of transcription in human cells
S Djebali, CA Davis, A Merkel, A Dobin, T Lassmann, A Mortazavi, ...
Nature 489 (7414), 101-108, 2012
54482012
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
29012004
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
23522004
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
20322013
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
JT Dunnen, SE Antonarakis
Human mutation 15 (1), 7-12, 2000
20192000
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
16992022
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
16361997
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
15252000
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
14942007
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
14602003
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
14412016
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
13752014
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
13691991
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
11412009
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
11341982
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
11311993
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
11151992
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