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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Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.
Danping Zhu,Deborah Alcorn,Stylianos E. Antonarakis,L. S. Levin,P. C. Huang,T. N. Mitchell,Andrew C. Warren,Irene H. Maumenee +7 more
TL;DR: To identify a DNA marker close to the gene responsible for the NH syndrome, linkage analysis on 36 members in a three-generation pedigree was performed using 31 DNA markers making the assignment of the locus for NH to the distal end of the short arm of the X chromosome likely.
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Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus
Maria Karayiorgou,Joseph A. Gogos,Joseph A. Gogos,Brandi L. Galke,J. A. Jeffery,Gerald Nestadt,Paula S. Wolyniec,Stylianos E. Antonarakis,Haig H. Kazazian,David E. Housman,D. A. Driscoll,A. E. Pulver +11 more
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The genomic landscape of human cellular circadian variation points to a novel role for the signalosome
Ludmila Gaspar,Cédric Howald,Konstantin Popadin,Bert Maier,Daniel Mauvoisin,Ermanno Moriggi,Maria Gutierrez-Arcelus,Emilie Falconnet,Christelle Borel,Dieter Kunz,Achim Kramer,Frédéric Gachon,Emmanouil T. Dermitzakis,Stylianos E. Antonarakis,Steven A. Brown +14 more
TL;DR: Using umbilical cord fibroblasts, it is determined by genome-wide association how common genetic variation impacts upon cellular circadian function, andGene set enrichment points to differences in protein catabolism as one major source of clock variation in humans.
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Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
Muhammad Ansar,Frédéric Ebstein,Hayriye Özkoç,Sohail A. Paracha,Justyna Iwaszkiewicz,Matthias Gesemann,Vincent Zoete,Vincent Zoete,Emmanuelle Ranza,Federico Santoni,Federico Santoni,Muhammad T. Sarwar,Jawad Ahmed,Elke Krüger,Ruxandra Bachmann-Gagescu,Stylianos E. Antonarakis +15 more
TL;DR: Genetic evidence in the family and functional experiments in human cells and zebrafish indicate that PSMB1/β6 pathogenic variants are the cause of a recessive disease with intellectual disability, microcephaly and developmental delay due to abnormal proteasome assembly.
Journal ArticleDOI
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1
Jean-Louis Blouin,Genevieve Duriaux Sail,Michel Guipponi,Colette Rossier,Marie-Pierre Pappasavas,Stylianos E. Antonarakis +5 more
TL;DR: The full-length coding region of the human BACH1 gene was isolated using expressed sequence tags, reverse transcription-polymerase chain reaction and rapid amplification of cDNA ends and it was found that the protein contains 736 amino acids and is 88% identical to its mouse homolog.