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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From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.
Alexandre Reymond,Marc Friedli,Charlotte N. Henrichsen,Fabian Chapot,Samuel Deutsch,Catherine Ucla,Colette Rossier,Robert Lyle,Michel Guipponi,Stylianos E. Antonarakis +9 more
TL;DR: This revision of the HC21 transcriptome has consequences for the entire genome regarding the quality of previous annotations and the total number of transcripts, and provides new candidates for genes involved in Down syndrome and other genetic disorders that map to HC21.
Journal ArticleDOI
Gene finding in the chicken genome
Eduardo Eyras,Alexandre Reymond,Alexandre Reymond,Robert Castelo,Jacqueline M. Bye,Francisco Camara,Paul Flicek,Elizabeth J. Huckle,Genís Parra,David Shteynberg,Carine Wyss,Jane Rogers,Stylianos E. Antonarakis,Ewan Birney,Roderic Guigó,Michael R. Brent +15 more
TL;DR: De novo comparative gene prediction followed by experimental verification is effective at enhancing the annotation of the newly sequenced genomes provided by standard homology-based methods.
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Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T.
Catia Attanasio,Philippe de Moerloose,Stylianos E. Antonarakis,Michael A. Morris,Marguerite Neerman-Arbez +4 more
TL;DR: The results confirm the utility of transfecting COS-7 cells to study mRNA splice-site mutations and demonstrate that the common FGA IVS4 variant is a null mutation leading to afibrinogenemia.
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Tandem repeat sequence variation as causative Cis‐eQTLs for protein‐coding gene expression variation: The case of CSTB
Christelle Borel,Christelle Borel,Eugenia Migliavacca,Eugenia Migliavacca,Audrey Letourneau,Maryline Gagnebin,Frédérique Béna,M. Reza Sailani,Emmanouil T. Dermitzakis,Andrew J. Sharp,Andrew J. Sharp,Stylianos E. Antonarakis +11 more
TL;DR: This work genotyped the repeat length and quantified CSTB expression by quantitative real‐time polymerase chain reaction in 173 lymphoblastoid cell lines (LCLs) and fibroblast samples from the GenCord collection, and proposed that polymorphic tandem repeats may represent the causative variation of a fraction of cis‐eQTLs in the genome.
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Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.
André Miguel Lopes Miranda,Mathieu Herman,Rong Cheng,Eden Nahmani,Geoffrey Barrett,Elizabeta Micevska,Gaëlle Fontaine,Marie-Claude Potier,Elizabeth Head,Frederick A. Schmitt,Ira T. Lott,Ira T. Lott,Ivonne Z. Jimenez-Velazquez,Stylianos E. Antonarakis,Gilbert Di Paolo,Joseph H. Lee,S. Abid Hussaini,Catherine Marquer +17 more
TL;DR: It is suggested that SYNJ1 contributes to memory deficits in the aging hippocampus in all forms of AD.