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Panagiotis I. Sergouniotis
Researcher at Manchester Royal Eye Hospital
Publications - 103
Citations - 4241
Panagiotis I. Sergouniotis is an academic researcher from Manchester Royal Eye Hospital. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 31, co-authored 84 publications receiving 3389 citations. Previous affiliations of Panagiotis I. Sergouniotis include UCL Institute of Ophthalmology & St Mary's Hospital.
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Journal ArticleDOI
The Human Phenotype Ontology in 2017
Sebastian Köhler,Nicole Vasilevsky,Mark Engelstad,Erin D. Foster,Julie A. McMurry,Ségolène Aymé,Gareth Baynam,Gareth Baynam,Susan M. Bello,Cornelius F. Boerkoel,Kym M. Boycott,Michael Brudno,Orion J. Buske,Patrick F. Chinnery,Valentina Cipriani,Laureen E. Connell,Hugh Dawkins,Laura E. DeMare,Andrew D. Devereau,Bert B.A. de Vries,Helen V. Firth,Kathleen Freson,Daniel Greene,Ada Hamosh,Ingo Helbig,Ingo Helbig,Courtney Hum,Johanna A. Jähn,Roger James,Roland Krause,Stanley J. F. Laulederkind,Hanns Lochmüller,Gholson J. Lyon,Soichi Ogishima,Annie Olry,Willem H. Ouwehand,Nikolas Pontikos,Ana Rath,Franz Schaefer,Richard H. Scott,Michael M. Segal,Panagiotis I. Sergouniotis,Richard Sever,Cynthia L. Smith,Volker Straub,Rachel Thompson,C. Turner,Ernest Turro,Marijcke W. M. Veltman,Tom Vulliamy,Jing Yu,Julie von Ziegenweidt,Andreas Zankl,Stephan Züchner,Tomasz Zemojtel,Julius O.B. Jacobsen,Tudor Groza,Damian Smedley,Christopher J. Mungall,Melissa A. Haendel,Peter N. Robinson +60 more
TL;DR: The progress of the HPO project is reviewed, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.
Journal ArticleDOI
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler,Leigh C. Carmody,Nicole Vasilevsky,Julius O.B. Jacobsen,Daniel Danis,Jean-Philippe F. Gourdine,Michael A. Gargano,Nomi L. Harris,Nicolas Matentzoglu,Julie A. McMurry,David Osumi-Sutherland,Valentina Cipriani,James P. Balhoff,Tom Conlin,Hannah Blau,Gareth Baynam,Richard Palmer,Dylan Gratian,Hugh Dawkins,Michael M. Segal,Anna Jansen,Ahmed Muaz,Willie H. Chang,Jenna R.E. Bergerson,Stanley J. F. Laulederkind,Zafer Yüksel,Sergi Beltran,Alexandra F. Freeman,Panagiotis I. Sergouniotis,Daniel Durkin,Andrea L. Storm,Marc Hanauer,Michael Brudno,Susan M. Bello,Murat Sincan,Kayli Rageth,Matthew T. Wheeler,Renske Oegema,Halima Lourghi,Maria G. Della Rocca,Rachel Thompson,Francisco Castellanos,James R. Priest,Charlotte Cunningham-Rundles,Ayushi Hegde,Ruth C. Lovering,Catherine Hajek,Annie Olry,Luigi D. Notarangelo,Morgan Similuk,Xingmin Aaron Zhang,David Gómez-Andrés,Hanns Lochmüller,Hélène Dollfus,Sergio Rosenzweig,Shruti Marwaha,Ana Rath,Kathleen E. Sullivan,Cynthia L. Smith,Joshua D. Milner,Dorothée Leroux,Cornelius F. Boerkoel,Amy D. Klion,Melody C. Carter,Tudor Groza,Damian Smedley,Melissa A. Haendel,Melissa A. Haendel,Christopher J. Mungall,Peter N. Robinson +69 more
TL;DR: The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data and plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data.
Journal ArticleDOI
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Gabrielle Wheway,Miriam Schmidts,Dorus A. Mans,Katarzyna Szymanska,Thanh Minh T. Nguyen,Hilary E. Racher,Ian G. Phelps,Grischa Toedt,Julie Kennedy,Kirsten A. Wunderlich,Nasrin Sorusch,Zakia Abdelhamed,Subaashini Natarajan,Warren Herridge,Jeroen van Reeuwijk,Nicola Horn,Karsten Boldt,David A. Parry,Stef J.F. Letteboer,Susanne Roosing,Matthew Adams,Sandra M. Bell,Jacquelyn Bond,Julie Higgins,Ewan E. Morrison,Darren C. Tomlinson,Gisela G. Slaats,Teunis J. P. van Dam,Lijia Huang,Kristin Kessler,Andreas Giessl,Clare V. Logan,Evan A. Boyle,Jay Shendure,Shamsa Anazi,Mohammed A. Aldahmesh,Selwa A. Al Hazzaa,Selwa A. Al Hazzaa,Robert A. Hegele,Carole Ober,Patrick Frosk,Aizeddin A. Mhanni,Bernard N. Chodirker,Albert E. Chudley,Ryan E. Lamont,Francois P. Bernier,Chandree L. Beaulieu,Paul M. K. Gordon,Richard T. Pon,Clem Donahue,A. James Barkovich,Louis Wolf,Carmel Toomes,Christian Thiel,Kym M. Boycott,Martin McKibbin,Chris F. Inglehearn,Fiona Stewart,Heymut Omran,Martijn A. Huynen,Panagiotis I. Sergouniotis,Panagiotis I. Sergouniotis,Fowzan S. Alkuraya,Jillian S. Parboosingh,A. Micheil Innes,Colin E. Willoughby,Rachel H. Giles,Andrew R. Webster,Andrew R. Webster,Marius Ueffing,Marius Ueffing,Oliver E. Blacque,Joseph G. Gleeson,Uwe Wolfrum,Philip L. Beales,Toby J. Gibson,Dan Doherty,Hannah M. Mitchison,Ronald Roepman,Colin A. Johnson +79 more
TL;DR: A whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium is described and insights into ciliogenesis complexity and roles for unanticipated pathways in human genetic disease are provided.
Journal ArticleDOI
Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans
Zheng Li,Panagiotis I. Sergouniotis,Michel Michaelides,Michel Michaelides,Donna S. Mackay,Genevieve A. Wright,Sophie Devery,Anthony T. Moore,Anthony T. Moore,Graham E. Holder,Graham E. Holder,Anthony G. Robson,Anthony G. Robson,Andrew R. Webster,Andrew R. Webster +14 more
TL;DR: Analysis of a consanguineous family and screening of nine additional pedigrees suggests an important role of this specific cation channel for the normal function of ON bipolar cells in the human retina.
Journal ArticleDOI
Retinal Structure and Function in Achromatopsia: Implications for Gene Therapy
Venki Sundaram,Venki Sundaram,Caroline Wilde,Jonathan Aboshiha,Jonathan Aboshiha,Jill A. Cowing,Colin Han,Christopher S Langlo,Ravinder K. Chana,Ravinder K. Chana,Alice E. Davidson,Alice E. Davidson,Panagiotis I. Sergouniotis,James W B Bainbridge,James W B Bainbridge,Robin R. Ali,Alfredo Dubra,Gary S. Rubin,Andrew R. Webster,Andrew R. Webster,Anthony T. Moore,Anthony T. Moore,Marko Nardini,Joseph Carroll,Michel Michaelides,Michel Michaelides +25 more
TL;DR: The lack of a clear association of disruption of retinal structure or function in ACHM with age suggests that the window of opportunity for intervention by gene therapy is wider in some individuals than previously indicated.