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.
Papers
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Audrey Schalk,Margot A. Cousin,Thomas D. Challman,Karen E. Wain,Zöe Powis,Kelly Minks,Aurélien Trimouille,Eulalie Lasseaux,Didier Lacombre,Chloé Angelini,Vincent Michaud,Julien Van-Gils,Nino Spataro,Anna Ruiz,Elizabeth Gabau,Elliot Stolerman,Camerun Washington,Raymond J. Louie,Brendan C Lanpher,Jennifer L. Kemppainen,A. Micheil Innes,R. Frank Kooy,Marije Meuwissen,Alice Goldenberg,François Lecoquierre,Gabriella Vera,Karin E. M. Diderich,Beth Rosen Sheidley,Christelle Moufawad El Achkar,Meredith Park,Fadi F. Hamdan,Jacques L. Michaud,Ann J. Lewis,Christiane Zweier,Christiane Zweier,André Reis,Matias Wagner,Heike Weigand,Hubert Journel,Boris Keren,Sandrine Passemard,Cyril Mignot,Koen L.I. van Gassen,Eva H. Brilstra,Gina Itzikowitz,Emily O'Heir,Emily O'Heir,Jake Allen,Kirsten A. Donald,Bruce R. Korf,Tammi Skelton,Michelle L Thompson,Nathaniel H. Robin,Natasha Rudy,William B. Dobyns,Kimberly Foss,Yuri A. Zarate,Katherine A. Bosanko,Yves Alembik,Benjamin A.R. Durand,Frédéric Tran Mau-Them,Emmanuelle Ranza,Xavier Blanc,Stylianos E. Antonarakis,Kirsty McWalter,Erin Torti,Francisca Millan,Amy Dameron,Mari J. Tokita,Michael T. Zimmermann,Nikita R. Dsouza,Eric W. Klee,Amélie Piton,Bénédicte Gérard +73 more
TL;DR: In this article, de novo coding variants in AGO1 are involved in a novel monogenic form of neurodevelopmental disorders (NDD), highly similar to AGO2 phenotype.
Patent
Method for predicting susceptibility of hiv infection
Amalio Telenti,Stylianos E. Antonarakis,Samuel Deutsch,Jacques S. Beckmann,Corinne Loeuillet +4 more
TL;DR: In this paper, a method for predicting susceptibility to infection with HIV and especially HIV-1 virus in a subject was proposed. But this method was not applied to predicting AIDS progression in an infected subject.
ic andhypoxia-inducibl e expression ofthehuman erythropoietin geneintransgenic mice (enhancer elements/gene regulation/in situ hybridization/polycythemia)
TL;DR: It is demonstrated that multiple erythropoietin generegula- toryelements control cell-type-specific expression andibility byafundamental physiologic stimulus, hypoxia.