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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Book ChapterDOI
Amino Acid Substitutions in the Factor VIII Coagulation Protein that Cause Hemophilia A in Man1
Journal ArticleDOI
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
Periklis Makrythanasis,Philipp Kapranov,Lucia Bartoloni,Alexandre Reymond,Samuel Deutsch,Roderic Guigó,Jorg Drenkow,Colette Rossier,Francesca Ariani,Valeria Capra,Laurent Excoffier,Alessandra Renieri,Thomas R. Gingeras,Thomas R. Gingeras,Stylianos E. Antonarakis +14 more
TL;DR: Interestingly however, there are about twice more variants in the novel exons than in the flanking sequences (44 vs. 21 for approximately 1.3 Mb sequenced for each class of sequences, p=0.0025).
Perturbations of Heart Development and Function in Cardiomyocytes from hESC with Trisomy 21
Alexis Bosman,Audrey Letourneau,Laura Sartiani,Martina Del Lungo,Flavio Lorenzo Ronzoni,Rostyslav Kuziakiv,Virpi Töhönen,Marco Zucchelli,Federico Santoni,Michel Guipponi,Biljana Dumevska,Outi Hovatta,Stylianos E. Antonarakis,Marisa Jaconi +13 more
Posted ContentDOI
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 +9 more
TL;DR: This paper 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.