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
Trisomic Phase Inference
TL;DR: Here this work provides an extension to the Bayesian approach for inferring linkage phase in trisomic samples and provides useful solutions for haplotype phasing of disomic genotypes.
Journal Article
DNAH3: Characterization of the sequence and mutation search in patients with Primary Ciliary Dyskinesia
Jean-Louis Blouin,Corinne Gehrig,Miguel Armengot,M Rutishauser,Mark Jorissen,D Jeganathan,Lucia Bartoloni,C Rossier,G Duriaux-Sail,N Scamuffa,H. Mitchison,C. D. DeLozier-Blanchet,Stylianos E. Antonarakis +12 more
Journal ArticleDOI
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Camille Tremblay-Laganière,Reza Maroofian,Thi Tuyet Mai Nguyen,Ehsan Ghayoor Karimiani,Salman Kirmani,Fizza Akbar,Shahnaz Ibrahim,Bushra Afroze,Mohammad Doosti,Farah Ashrafzadeh,Meisam Babaei,Stephanie Efthymiou,Marilena Christoforou,Tipu Sultan,Roger L. Ladda,Heather M. McLaughlin,Rebecca Truty,Sonal Mahida,Julie S. Cohen,Julie S. Cohen,Kristin W. Barañano,Kristin W. Barañano,Fatima Y. Ismail,Fatima Y. Ismail,Millan S. Patel,Anna Lehman,Andrew C. Edmondson,Amanda Nagy,Melissa A. Walker,Saadet Mercimek-Andrews,Saadet Mercimek-Andrews,Yuta Maki,Rani Sachdev,Rani Sachdev,Rebecca Macintosh,Elizabeth E. Palmer,Elizabeth E. Palmer,Grazia M.S. Mancini,Tahsin Stefan Barakat,Robert Steinfeld,Christina T. Rüsch,Georg M. Stettner,Matias Wagner,Saskia B. Wortmann,Usha Kini,Angela F. Brady,Karen Stals,Naila Ismayilova,Sian Ellard,Danilo Bernardo,Kimberly Nugent,Scott D. McLean,Stylianos E. Antonarakis,Henry Houlden,Taroh Kinoshita,Philippe M. Campeau,Yoshiko Murakami +56 more
TL;DR: In this article, the authors describe 22 individuals from 19 unrelated families with biallelic variants in PIGG, and demonstrate enzymatic activity defects for these variants in vitro in a double knockout system, showing cerebellar atrophy, various neurological manifestations, and mitochondrial dysfunction.
Journal ArticleDOI
YAC cloning of DNA embedded in an agarose matrix
Mary Kay McCormick,Stylianos E. Antonarakis,Stylianos E. Antonarakis,Philip Hieter,Philip Hieter +4 more
TL;DR: This method has been used to construct chromosome specific YACs and it should be possible to apply the technique to the construction of chromosome specific libraries using flow sorted chromosomes as source material, and the cloning of restriction fragments isolated by preparative pulsed field gel electrophoresis.
Journal ArticleDOI
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation.
Armand Bottani,Jamel Chelly,Arjan P.M. de Brouwer,Bruno Pardo,Mandy Barker,Valeria Capra,Lucia Bartoloni,Stylianos E. Antonarakis,Bernard Conrad,Bernard Conrad +9 more
TL;DR: This research presents a novel and scalable approach called “Smart Gene Regulation” that allows for real-time decision-making in the rapidly changing environment and has the potential to revolutionise the field of genetic medicine and development.