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
Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation
Maria Gutierrez-Arcelus,Maria Gutierrez-Arcelus,Tuuli Lappalainen,Tuuli Lappalainen,Stephen B. Montgomery,Stephen B. Montgomery,Alfonso Buil,Alfonso Buil,Halit Ongen,Halit Ongen,Alisa Yurovsky,Alisa Yurovsky,Julien Bryois,Julien Bryois,Thomas Giger,Luciana Romano,Luciana Romano,Alexandra Planchon,Alexandra Planchon,Emilie Falconnet,Deborah Bielser,Maryline Gagnebin,Ismael Padioleau,Ismael Padioleau,Christelle Borel,Audrey Letourneau,Periklis Makrythanasis,Michel Guipponi,Corinne Gehrig,Stylianos E. Antonarakis,Emmanouil T. Dermitzakis,Emmanouil T. Dermitzakis +31 more
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Eye Gaze During Face Processing in Children and Adolescents With 22q11.2 Deletion Syndrome
Bronwyn Glaser,Martin Debbané,Marie-Christine Ottet,Patrik Vuilleumier,Pascal Eric Zesiger,Stylianos E. Antonarakis,Stephan Eliez +6 more
TL;DR: In this paper, eye gaze and behavioral correlates were investigated in 26 subjects (aged 8 to 15 years) with 22q11DS during the Jane Task, which targets featural and configural face processing, and showed that abnormal exploration of faces in the syndrome may contribute to face processing difficulties and interact with anxiety levels to exacerbate socio-emotional dysfunction in affected individuals.
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Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.
Marc Friedli,Michel Guipponi,Sonia Bertrand,Daniel Bertrand,Marguerite Neerman-Arbez,Hamish S. Scott,Stylianos E. Antonarakis,Alexandre Reymond +7 more
TL;DR: The molecular cloning and initial characterisation of two splice forms of a novel member of this family, CLIC6, mapping to human chromosome 21 are reported, which contains a GC rich segment and encodes a 10 amino acid motif repeated 14 times in the amino-terminus.
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Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.
TL;DR: The proportion of the mutant mtDNA correlates with the severity of the disease, and was heteroplasmic in all affected individuals, female carriers, and males at-risk.
Journal Article
Evidence supporting a single origin of the beta(C)-globin gene in blacks.
TL;DR: Haplotype analysis on an additional 14 beta C alleles demonstrated complete association with the typical beta C-associated polymorphisms in the 3' region of the cluster, which can be most easily explained by a single origin of the mutation followed by spread of the mutations to other haplotypes through meiotic recombination 5' to the beta-globin gene.