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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No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome.
TL;DR: The authors concluded that UPD3q is not associated with most cases of BDLS; however, this study does not exclude the possibility of UPD for a small portion of 3q, that has not been examined with the markers used.
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No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.
Michel Guipponi,Federico Santoni,Maude Schneider,Corinne Gehrig,X. B. Bustillo,Wendy R. Kates,Bernice E. Morrow,Marco Armando,Marco Armando,Stefano Vicari,Frédérique Sloan-Béna,Maryline Gagnebin,Vandana Shashi,Stephen R. Hooper,Stephan Eliez,Stylianos E. Antonarakis +15 more
TL;DR: This study captured and sequenced the whole 22q11.2 non-deleted region in 88 VCFS patients with and without psychotic disorders to identify genetic variation that could increase the risk for schizophrenia.
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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells.
Audrey Letourneau,Gilda Cobellis,Alexandre Fort,Federico Santoni,Marco Garieri,Emilie Falconnet,Pascale Ribaux,Anne Vannier,Michel Guipponi,Piero Carninci,Christelle Borel,Stylianos E. Antonarakis +11 more
TL;DR: Evidence is provided that SIM2 binds a specific set of enhancer elements thus explaining how SIM2 can regulate its gene network in neuronal features.
Journal ArticleDOI
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
Francesca Mattioli,Hossein Darvish,Sohail A. Paracha,Abbas Tafakhori,Saghar Ghasemi Firouzabadi,Marjan Chapi,Hafiz Muhammad Azhar Baig,Alexandre Reymond,Stylianos E. Antonarakis,Muhammad Ansar,Muhammad Ansar +10 more
TL;DR: The authors identified two consanguineous families with homozygous variants predicted to alter the splicing of ATP9A which encodes a transmembrane lipid flippase of the class II P4-ATPases.
Journal Article
Corrigendum: The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS (Nucleic Acids Research (1996) 24 (100-102))
A. I. Wacey,Geoffrey Kemball-Cook,H H Kazazian,Stylianos E. Antonarakis,Rainer Schwaab,P.F. Lindley,Egd Tuddenham +6 more