Stylianos Antonarakis
Stylianos E. Antonarakis (born 1951) is a Greece-born human geneticist.Antonarakis is Professor of Genetic Medicine at the University of Geneva Medical School in Switzerland. From 2012 to 2017 he was the director of the iGE3 institute of Genetics and Genomics in Geneva, which he co-founded. He is the President of the Human Genome Organization (since 2013), a member of the scientific council of the Swiss National Science Foundation, and chair of the Genetics panel of the European Research Council. Previously he was the President of the European Society of Human Genetics.
Antonarakis holds degrees in medicine, from the University of Athens, and in human genetics, from the Johns Hopkins School of Medicine, Maryland, US. His research focuses on the relationship between genomic and phenotypic variations, in particular the functional analysis of the genome, effect of human genetic variation to phenotypic variation, the molecular pathogenesis of trisomy 21 and polygenic phenotypes, the functional characterization of the conserved fraction of the genome, diagnostics and prevention of genetic disorders, and the societal implications of genetics and genome research.
Antonarakis co-authored more than 620 papers and is listed as one of the highly cited scientists by the Institute for Scientific Information (h-index 149 [https://scholar.google.com/citations?hl=en&user=HJyMVXoAAAAJ&view_op=list_works&sortby=pubdate according to Google Scholar by the end of April 2020]). He is co-editor of the classic textbook ''Genetics in Medicine'', and is an editor of journals ''Annual Review of Genetics'', ''Genomics and Genome Research'' and ''eLife''. Provided by Wikipedia
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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 by Youssef Hibaoui, Iwona Grad, Audrey Letourneau, M Reza Sailani, Sophie Dahoun, Federico A Santoni, Stefania Gimelli, Michel Guipponi, Marie Françoise Pelte, Frédérique Béna, Stylianos E Antonarakis, Anis Feki
Published 2013-12-01Get full text
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A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes. by Outi Hovatta, Marisa Jaconi, Virpi Töhönen, Frédérique Béna, Stefania Gimelli, Alexis Bosman, Frida Holm, Stefan Wyder, Evgeny M Zdobnov, Olivier Irion, Peter W Andrews, Stylianos E Antonarakis, Marco Zucchelli, Juha Kere, Anis Feki
Published 2010-04-01Get full text
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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins. by M Reza Sailani, Federico A Santoni, Audrey Letourneau, Christelle Borel, Periklis Makrythanasis, Youssef Hibaoui, Konstantin Popadin, Ximena Bonilla, Michel Guipponi, Corinne Gehrig, Anne Vannier, Frederique Carre-Pigeon, Anis Feki, Dean Nizetic, Stylianos E Antonarakis
Published 2015-01-01Get full text
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing. by Maria Gutierrez-Arcelus, Halit Ongen, Tuuli Lappalainen, Stephen B Montgomery, Alfonso Buil, Alisa Yurovsky, Julien Bryois, Ismael Padioleau, Luciana Romano, Alexandra Planchon, Emilie Falconnet, Deborah Bielser, Maryline Gagnebin, Thomas Giger, Christelle Borel, Audrey Letourneau, Periklis Makrythanasis, Michel Guipponi, Corinne Gehrig, Stylianos E Antonarakis, Emmanouil T Dermitzakis
Published 2015-01-01Get full text
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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. by Barbara D'haene, Catia Attanasio, Diane Beysen, Josée Dostie, Edmond Lemire, Philippe Bouchard, Michael Field, Kristie Jones, Birgit Lorenz, Björn Menten, Karen Buysse, Filip Pattyn, Marc Friedli, Catherine Ucla, Colette Rossier, Carine Wyss, Frank Speleman, Anne De Paepe, Job Dekker, Stylianos E Antonarakis, Elfride De Baere
Published 2009-06-01Get full text
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Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis by Xiaopeng Xu, Qi Chen, Qingpei Huang, Timothy C. Cox, Hao Zhu, Jintian Hu, Xi Han, Ziqiu Meng, Bingqing Wang, Zhiying Liao, Wenxin Xu, Baichuan Xiao, Ruirui Lang, Jiqiang Liu, Jian Huang, Xiaokai Tang, Jinmo Wang, Qiang Li, Ting Liu, Qingguo Zhang, Stylianos E. Antonarakis, Jiao Zhang, Xiaoying Fan, Huisheng Liu, Yong-Biao Zhang
Published 2025-05-01Get full text
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FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries by Ambroise Wonkam, Kevin Esoh, Rachel M. Levine, Valentina Josiane Ngo Bitoungui, Khuthala Mnika, Nikitha Nimmagadda, Erin A. D. Dempsey, Siana Nkya, Raphael Z. Sangeda, Victoria Nembaware, Jack Morrice, Fujr Osman, Michael A. Beer, Julie Makani, Nicola Mulder, Guillaume Lettre, Martin H. Steinberg, Rachel Latanich, James F. Casella, Daiana Drehmer, Dan E. Arking, Emile R. Chimusa, Jonathan S. Yen, Gregory A. Newby, Stylianos E. Antonarakis
Published 2025-03-01Get full text
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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. by Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis, Pascal Bernard, Hiroshi Kurosaka, Anne Vannier, Christel Thauvin-Robinet, Christelle Borel, Séverine Mazaud-Guittot, Antoine Rolland, Christèle Desdoits-Lethimonier, Michel Guipponi, Céline Zimmermann, Isabelle Stévant, Françoise Kuhne, Béatrice Conne, Federico Santoni, Sandy Lambert, Frederic Huet, Francine Mugneret, Jadwiga Jaruzelska, Laurence Faivre, Dagmar Wilhelm, Bernard Jégou, Paul A Trainor, Marilyn D Resh, Stylianos E Antonarakis, Serge Nef
Published 2014-05-01Get full text
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Common genetic variation and the control of HIV-1 in humans. by Jacques Fellay, Dongliang Ge, Kevin V Shianna, Sara Colombo, Bruno Ledergerber, Elizabeth T Cirulli, Thomas J Urban, Kunlin Zhang, Curtis E Gumbs, Jason P Smith, Antonella Castagna, Alessandro Cozzi-Lepri, Andrea De Luca, Philippa Easterbrook, Huldrych F Günthard, Simon Mallal, Cristina Mussini, Judith Dalmau, Javier Martinez-Picado, José M Miro, Niels Obel, Steven M Wolinsky, Jeremy J Martinson, Roger Detels, Joseph B Margolick, Lisa P Jacobson, Patrick Descombes, Stylianos E Antonarakis, Jacques S Beckmann, Stephen J O'Brien, Norman L Letvin, Andrew J McMichael, Barton F Haynes, Mary Carrington, Sheng Feng, Amalio Telenti, David B Goldstein, NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI)
Published 2009-12-01Get full text
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A high-resolution anatomical atlas of the transcriptome in the mouse embryo. by Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R Davidson, Pascal Dollé, Stylianos E Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Salvador Martinez, Richard A Baldock, Gregor Eichele, Andrea Ballabio
Published 2011-01-01Get full text
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