Stylianos E. Antonarakis
Stylianos E. Antonarakis
Professor of Genetic Medicine, University of Geneva Medical School
Geverifieerd e-mailadres voor unige.ch
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An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium
Nature 489 (7414), 57, 2012
125132012
Initial sequencing and comparative analysis of the mouse genome
RH Waterston, L Pachter
Nature 420 (6915), 520-562, 2002
73762002
Mendelian inheritance in man: a catalog of human genes and genetic disorders
VA McKusick
JHU Press, 1998
62461998
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
ENCODE Project Consortium
nature 447 (7146), 799, 2007
54652007
Landscape of transcription in human cells
S Djebali, CA Davis, A Merkel, A Dobin, T Lassmann, A Mortazavi, ...
Nature 489 (7414), 101-108, 2012
43152012
The metabolic and molecular bases of inherited disease
YT Chen
Glycogen storage diseases, 1521-1551, 2001
33352001
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution.
International Chicken Genome Sequencing Consortium
Nature 432 (7018), 695-716, 2004
25002004
Vogel and motulsky's human genetics: Problems and approaches
F Vogel, AG Motulsky
Springer Science & Business Media, 2013
22472013
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
JT Dunnen, SE Antonarakis
Human mutation 15 (1), 7-12, 2000
19242000
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, P Ac‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
16432013
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
14391997
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
13902003
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
13892000
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
13622007
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
11502014
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
11371991
Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
SH Orkin, HH Kazazian, SE Antonarakis, SC Goff, CD Boehm, JP Sexton, ...
Nature 296 (5858), 627-631, 1982
10731982
Recommendations for a nomenclature system for human gene mutations
SE Antonarakis, Nomenclature Working Group
Human mutation 11 (1), 1-3, 1998
10721998
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
10701992
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
D Lakich, HH Kazazian, SE Antonarakis, J Gitschier
Nature genetics 5 (3), 236-241, 1993
10431993
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Artikelen 1–20