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Stylianos E. Antonarakis
Stylianos E. Antonarakis
Professor of Genetic Medicine, University of Geneva Medical School
Bestätigte E-Mail-Adresse bei unige.ch
Titel
Zitiert von
Zitiert von
Jahr
An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium
Nature 489 (7414), 57, 2012
174902012
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
87792002
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
61342007
Landscape of transcription in human cells
S Djebali, CA Davis, A Merkel, A Dobin, T Lassmann, A Mortazavi, ...
Nature 489 (7414), 101-108, 2012
58152012
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
29652004
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
25802022
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
24622004
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
21342013
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
JT Dunnen, SE Antonarakis
Human mutation 15 (1), 7-12, 2000
20522000
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
16761997
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
16382016
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
15672000
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
15402007
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
14952003
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
14571991
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
14552014
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
11691993
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
11672009
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
11351982
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
11281992
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