Stylianos Antonarakis

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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Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences. by Daniel Robyr, Marc Friedli, Corinne Gehrig, Mélanie Arcangeli, Marilyn Marin, Michel Guipponi, Laurent Farinelli, Isabelle Barde, Sonia Verp, Didier Trono, Stylianos E Antonarakis
Published 2011-01-01
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Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications by Antonietta Coppola, Antonio Romito, Christelle Borel, Corinne Gehrig, Maryline Gagnebin, Emilie Falconnet, Antonella Izzo, Lucia Altucci, Sandro Banfi, Stylianos E. Antonarakis, Gabriella Minchiotti, Gilda Cobellis
Published 2014-03-01
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Genome-wide associations of gene expression variation in humans. by Barbara E Stranger, Matthew S Forrest, Andrew G Clark, Mark J Minichiello, Samuel Deutsch, Robert Lyle, Sarah Hunt, Brenda Kahl, Stylianos E Antonarakis, Simon Tavaré, Panagiotis Deloukas, Emmanouil T Dermitzakis
Published 2005-12-01
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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 2013-12-01
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The genomic landscape of human cellular circadian variation points to a novel role for the signalosome by Ludmila Gaspar, Cedric Howald, Konstantin Popadin, Bert Maier, Daniel Mauvoisin, Ermanno Moriggi, Maria Gutierrez-Arcelus, Emilie Falconnet, Christelle Borel, Dieter Kunz, Achim Kramer, Frederic Gachon, Emmanouil T Dermitzakis, Stylianos E Antonarakis, Steven A Brown
Published 2017-09-01
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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 2010-04-01
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Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1 by Ferenc B. Sallo, MD, PhD, Chantal Dysli, MD, PhD, Franz Josef Holzer, MD, Emmanuelle Ranza, MD, Michel Guipponi, MD, Stylianos E. Antonarakis, MD, Francis L. Munier, MD, Alan C. Bird, MD, Daniel F. Schorderet, MD, Beatrice Rossillion, MD, Veronika Vaclavik, MD
Published 2025-01-01
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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 2015-01-01
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Passive and active DNA methylation and the interplay with genetic variation in gene regulation by Maria Gutierrez-Arcelus, Tuuli Lappalainen, Stephen B Montgomery, Alfonso Buil, Halit Ongen, Alisa Yurovsky, Julien Bryois, Thomas Giger, Luciana Romano, Alexandra Planchon, Emilie Falconnet, Deborah Bielser, Maryline Gagnebin, Ismael Padioleau, Christelle Borel, Audrey Letourneau, Periklis Makrythanasis, Michel Guipponi, Corinne Gehrig, Stylianos E Antonarakis, Emmanouil T Dermitzakis
Published 2013-06-01
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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 2009-06-01
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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 2025-03-01
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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 2014-05-01
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The genetic cause of neurodevelopmental disorders in 30 consanguineous families by Sohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, Asmat Shaheen, Gohar Zaman, Jawad Ahmed, Fahim Shah, Sundus Khwaja, Abid Jan, Nida Khan, Mohammad Azhar Kamal, Qamre Alam, Safdar Abbas, Saman Farman, Ahmed Waqas, Afnan Alkathiri, Abdullah Hamadi, Federico Santoni, Federico Santoni, Federico Santoni, Naseeb Ullah, Bisma Khalid, Stylianos E. Antonarakis, Khalid A Fakhro, Khalid A Fakhro, Khalid A Fakhro, Muhammad Umair, Muhammad Umair, Muhammad Ansar, Muhammad Ansar
Published 2024-08-01
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Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome by Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski
Published 2023-07-01
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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 2009-12-01
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FOXI3 pathogenic variants cause one form of craniofacial microsomia by Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis
Published 2023-04-01
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