S
Stylianos E. Antonarakis
Researcher at University of Geneva
Publications - 758
Citations - 99393
Stylianos E. Antonarakis is an academic researcher from University of Geneva. The author has contributed to research in topics: Gene & Chromosome 21. The author has an hindex of 138, co-authored 746 publications receiving 93605 citations. Previous affiliations of Stylianos E. Antonarakis include Northwestern University & Gujarat University.
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Journal ArticleDOI
A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
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 Nathalie 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 Davidson,Pascal Dollé,Stylianos E. Antonarakis,Marie-Laure Yaspo,Salvador Martinez,Richard Baldock,Gregor Eichele,Andrea Ballabio +67 more
TL;DR: The manuscript describes the “digital transcriptome atlas” of the developing mouse embryo, a powerful resource to determine co-expression of genes, to identify cell populations and lineages and to identify functional associations between genes relevant to development and disease.
Journal ArticleDOI
GENCODE: producing a reference annotation for ENCODE
Jennifer Harrow,Adam Frankish,Alexandre Reymond,Alexandre Reymond,Chao-Kung Chen,Jacqueline Chrast,Julien Lagarde,James G. R. Gilbert,Roy Storey,David Swarbreck,Colette Rossier,Catherine Ucla,Tim Hubbard,Stylianos E. Antonarakis,Roderic Guigó +14 more
TL;DR: The comprehensiveness of the GENCODE annotation was assessed by attempting to validate all the predicted exon boundaries outside the GencODE annotation, which showed only 40% of GENCode exons are contained within the two sets, which is a reflection of the high number of alternative splice forms with unique exons annotated.
Journal ArticleDOI
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A
L. Bi,Ann M. Lawler,Stylianos E. Antonarakis,Katherine A. High,John D. Gearhart,Haig H. Kazazian +5 more
TL;DR: A small animal model of Haemophilia A is desirable for studies of factor VIII function and gene therapy, and a mouse with severe factorVIII deficiency is made using gene targeting.
Journal ArticleDOI
Chromosome 21 and down syndrome: from genomics to pathophysiology.
Stylianos E. Antonarakis,Robert Lyle,Emmanouil T. Dermitzakis,Alexandre Reymond,Samuel Deutsch +4 more
TL;DR: Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences.
Journal ArticleDOI
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.
Ricardo Segurado,Sevilla D. Detera-Wadleigh,Douglas F. Levinson,Cathryn M. Lewis,Michael Gill,John I. Nurnberger,Nicholas John Craddock,J. Raymond DePaulo,Miron Baron,Elliot S. Gershon,Jenny Ekholm,Sven Cichon,Gustavo Turecki,Stephan Claes,John R. Kelsoe,Peter R. Schofield,Renee F. Badenhop,Renee F. Badenhop,Jean Morissette,Hilary Coon,Douglas Blackwood,L. Alison McInnes,Tatiana Foroud,Howard J. Edenberg,Theodore Reich,John P. Rice,Alison Goate,Melvin G. McInnis,Francis J. McMahon,Judith A. Badner,Lynn R. Goldin,Phil Bennett,Virginia L. Willour,Peter P. Zandi,Jianjun Liu,Conrad T. Gilliam,S H Juo,Wade H. Berrettini,Takeo Yoshikawa,Leena Peltonen,Leena Peltonen,Jouko Lönnqvist,Markus M. Nöthen,Johannes Schumacher,Christine Windemuth,Marcella Rietschel,Peter Propping,Wolfgang Maier,Martin Alda,Paul Grof,Guy A. Rouleau,Jurgen Del-Favero,Christine Van Broeckhoven,Julien Mendlewicz,Rolf Adolfsson,M. Anne Spence,Hermann Luebbert,L. J. Adams,Jennifer A. Donald,Philip B. Mitchell,Nicholas Barden,Eric Shink,William Byerley,Walter J. Muir,Peter M. Visscher,Stuart MacGregor,Hugh Gurling,Gursharan Kalsi,Andrew McQuillin,Michael Escamilla,Victor I. Reus,Pedro León,Nelson B. Freimer,Henrik Ewald,Torben A Kruse,Ole Mors,Uppala Radhakrishna,Jean-Louis Blouin,Stylianos E. Antonarakis,Nurten A. Akarsu +79 more
TL;DR: The present results for the very narrow model are promising but suggest that more and larger data sets are needed to support linkage, as well as suggest that linkage might be detected in certain populations or subsets of pedigrees.