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.
Papers
More filters
Book ChapterDOI
The Angelman Syndrome (AS)
TL;DR: Angelman syndrome was one of the first disorders described as caused by genetic imprinting and caused neurological symptoms such as lack of speech, jerky movements, and insomnia.
Journal ArticleDOI
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
Angad Jolly,Haowei Du,Christelle Borel,Na Chen,Sen Zhao,Christopher M. Grochowski,Ruizhi Duan,Jawid M Fatih,Moez Dawood,Sejal Salvi,Shalini N. Jhangiani,Donna M. Muzny,Andre Koch,Konstantinos Rouskas,Stavros Glentis,Efthimios Deligeoroglou,Flora Bacopoulou,Carol Wise,Jennifer E. Dietrich,Ignatia B. Van den Veyver,Antigone S. Dimas,Sara Y. Brucker,V. Reid Sutton,Richard A. Gibbs,Stylianos E. Antonarakis,Nan Wu,Zeynep Coban-Akdemir,Lan Zhu,Jennifer E. Posey,James R. Lupski +29 more
TL;DR: This paper used quantitative phenotypic analyses in a worldwide multiethnic cohort to identify and strengthen the association of GREB1L to isolated uterine agenesis (MRKH type I) and syndromic MRKH Type II.
Journal ArticleDOI
Contributors and Participants
L.R. Weitkamp,R.A. Lewis,E.B. Claus,L. Giuffra,Jack T. Rogers,N. Risen,F.M. Demenais,Maria Martinez,A.E. Laing,D.L. Duffy,A.M. Macdonald,D.F. Easton,B.A.J. Ponder,N.G. Martin,L.A. Farrer,Richard H. Myers,L.A. Cupples,D.E. Goldgar,Lisa A. Cannon-Albright,L.J. Meyer,M.W. Piepkorn,J.J. Zone,M.H. Skolnick,A.M. Goldstein,S.J. Bale,M.A. Tucker,Jonathan Haines,James A. Trofatter,A. Kong,M. Frigge,N. Cox,W.H. Wong,Nancy R. Mendell,H. Yuan,R. Neuman,P. Van Eerdewegh,S. Moldin,Nan Rochberg,G.M. Petersen,J.D. Elashoff,V.L. Prenger,C.R. Colyer,B.G. Mellen,E.L. Harris,Terri H. Beaty,Deborah A. Meyers,M.C. Speer,Chad Haynes,Margaret A. Pericak-Vance,D.C. Thomas,Jean W. MacCluer,Aravinda Chakravarti,David R. Cox,Timothy Bishop,Sherri J. Bale,Mark H. Skolnick,M. Boehnke,P. Green,D.R. Cox,Katheleen Gardiner,David Patterson,W. Bergman,N.A. Gruis,R.R. Frants,G.M. Cox,M.B. Risman,J.A. Salmon,J.K. Rivers,J.A. Donald,Daniel E. Weeks,T. Lehner,J. Ott,B.S. Weir,M.A. Province,I.B. Borecki,T. Rice,G.P. Vogler,H.M. Shaw,W.H. McCarthy,R.F. Kefford,C.I. Amos,C. Murigande,Joan E. Bailey-Wilson,T.E. Dobbins,J. Blangero,S. Williams-Blangero,C.M. Kammerer,B. Towne,L.W. Konigsberg,H. Blossey,S.W. Guo,B. McKnight,C. Tierney,Erik W. Thompson,Ellen M. Wijsman,Rita M. Cantor,A.C. Warren,Stylianos E. Antonarakis,A. Chakravarti,Rudolph E. Tanzi,P. Watkms,Nancy S. Wexler,P. M. Conneally,James F. Gusella,C.E. Aston,D.T. Bishop,G.P. Crockford,J.E. Reefer,Darlene R. Goldstein,Rudy Guerra,Mary Sara McPeek,Terence P. Speed,P.M. Stewart,S. Lawrence,N. Morton,Sarah R. Wilson,G.E. Bonney,K.K. Amfoh,S.L. Sherman,B.J.B. Keats,Lynn R. Goldin,N.E. Maestri,T.M. King,Gary A. Chase,C.T. Falk,A.P. Round,P. Szolovits,C.M. Lewis,J.D. Terwilliger,Veronica J. Vieland,David A. Greenberg,Susan E. Hodge,N. Risch,Stuart Sherman +133 more
Posted ContentDOI
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2
Stylianos E. Antonarakis,Aleš Holoubek,M. Rapti,Jesse Rademaker,Jenny Meylan,Justyna Iwaszkiewicz,Vincent Zoete,Vincent Zoete,Muhammad Ansar,Christelle Borel,Olivier Menzel,K. Kuzelova,Federico Santoni +12 more
TL;DR: The results show that PAK2 induced phenotypic spectrum is broad and not fully understood, and it is concluded that the KNO2 syndrome in the studied family is dominant and caused by a deleterious variant in thePAK2 gene.