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 response to Suzuki et al. “How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?”
Stylianos E. Antonarakis,Alexandre Reymond,Alexandre Reymond,Olivier Menzel,Reidunn C.J. Bekkeheien,Naomi Fukai,Eileen Boye,György Kosztolányi,Salim Aftimos,Samuel Deutsch,Hamish S. Scott,Bjorn R. Olsen,Michel Guipponi +12 more
Journal ArticleDOI
Hemophilia a: recurrent mutations and an unusual deletion
Hagop Youssoufian,Achyut S. Patel,Deborah G. Phillips,Haig H. Kazazian,Stylianos E. Antonarakis +4 more
TL;DR: It is estimated that the mutation rate of CG to TG in the F8 gene is at least 100 times greater than the average mutation rate per nucleotide and may create a new splice donor site in hemophilia A.
Book ChapterDOI
Human Genomic Variants and Inherited Disease: Molecular Mechanisms and Clinical Consequences
TL;DR: The study of mutations in human genes is nevertheless of paramount importance for understanding the pathophysiology of inherited disorders, for optimizing diagnostic testing and guiding the design of emergent therapies.
Journal ArticleDOI
Prenatal diagnosis and carrier detection by DNA analysis.
TL;DR: The list of identified genes now includes those responsible for a number of relatively common genetic disorders, including cystic fibrosis, Duchenne muscular dystrophy, hemophilia A, sickle cell disease, and neurofibromatosis.
Journal ArticleDOI
Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes.
Michel Guipponi,Federico Santoni,Vincent Setola,Corinne Gehrig,Maud Rothärmel,Macarena Cuenca,Olivier Guillin,Dimitris Dikeos,Georgios Georgantopoulos,George N. Papadimitriou,Logos Curtis,Alexandre Méary,Franck Schürhoff,Stéphane Jamain,Dimitri Avramopoulos,Marion Leboyer,Dan Rujescu,Ann E. Pulver,Dominique Campion,David P. Siderovski,Stylianos E. Antonarakis +20 more
TL;DR: Clinical data for each SCZ trio is presented, showing the importance of knowing the carrier and removal status of canine coronavirus, which can be a source of infection for other animals and humans.