V
Valentina Cipriani
Researcher at University College London
Publications - 41
Citations - 4234
Valentina Cipriani is an academic researcher from University College London. The author has contributed to research in topics: Medicine & Genome-wide association study. The author has an hindex of 18, co-authored 32 publications receiving 3389 citations. Previous affiliations of Valentina Cipriani include Moorfields Eye Hospital & Queen Mary University of London.
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Journal ArticleDOI
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche,Wilmar Igl,Jessica N. Cooke Bailey,Felix Grassmann,Sebanti Sengupta,Jennifer L. Bragg-Gresham,Kathryn P. Burdon,Scott J. Hebbring,Cindy Wen,Mathias Gorski,Ivana K. Kim,David Cho,Donald J. Zack,Donald J. Zack,Eric H. Souied,Hendrik P. N. Scholl,Hendrik P. N. Scholl,Elisa Bala,Kristine ELee,David J. Hunter,Rebecca J. Sardell,Paul Mitchell,Joanna E. Merriam,Valentina Cipriani,Valentina Cipriani,Joshua D. Hoffman,Tina Schick,Yara T. E. Lechanteur,Robyn H. Guymer,Matthew P. Johnson,Yingda Jiang,Chloe M. Stanton,Gabri'lle H.S. Buitendijk,Xiaowei Zhan,Xiaowei Zhan,Alan M. Kwong,Alexis Boleda,Matthew Brooks,Linn Gieser,Rinki Ratnapriya,Kari Branham,Johanna R. Foerster,John R. Heckenlively,Mohammad Othman,Brendan J. Vote,Helena Liang,Emmanuelle Souzeau,Ian L. McAllister,Timothy Isaacs,Janette Hall,Stewart Lake,David A. Mackey,David A. Mackey,David A. Mackey,Ian J. Constable,Jamie E Craig,Terrie Kitchner,Zhenglin Yang,Zhenglin Yang,Zhiguang Su,Hongrong Luo,Daniel Chen,Hong Ouyang,Ken Flagg,Danni Lin,Guanping Mao,Henry Ferreyra,Klaus Stark,Claudia N von Strachwitz,Armin Wolf,Caroline Brandl,G. Rudolph,Matthias Olden,Margaux A. Morrison,Denise J. Morgan,Matthew Schu,Jeeyun Ahn,Giuliana Silvestri,Evangelia E. Tsironi,Kyu Hyung Park,Lindsay A. Farrer,Anton Orlin,Alexander J. Brucker,Mingyao Li,Christine A. Curcio,Saddek Mohand-Sa'd,José-Alain Sahel,Isabelle Audo,Mustapha Benchaboune,Angela J. Cree,Christina A Rennie,S. V. Goverdhan,Michelle Grunin,Shira Hagbi-Levi,Peter A. Campochiaro,Nicholas Katsanis,Frank G. Holz,Frédéric Blond,Frédéric Blond,Frédéric Blond,Hél'ne Blanché,Jean Fran ois Deleuze,Robert P. Igo,Barbara Truitt,Neal S. Peachey,Neal S. Peachey,Stacy M. Meuer,Chelsea E. Myers,Emily L. Moore,Ronald Klein,Michael A. Hauser,Eric A. Postel,Monique D. Courtenay,Stephen G. Schwartz,Jaclyn L. Kovach,William K. Scott,Gerald Liew,Ava Grace Tan,Bamini Gopinath,John C. Merriam,R. Theodore Smith,R. Theodore Smith,Jane C. Khan,Jane C. Khan,Jane C. Khan,Humma Shahid,Humma Shahid,Anthony T. Moore,Anthony T. Moore,Anthony T. Moore,J Allie McGrath,Renee Laux,Milam A. Brantley,Anita Agarwal,Lebriz Ersoy,Albert Caramoy,Thomas Langmann,Nicole T.M. Saksens,Eiko Kde Jong,Carel B. Hoyng,Melinda Cain,Andrea J. Richardson,Tammy M. Martin,John Blangero,Daniel E. Weeks,Bal Dhillon,Cornelia M. van Duijn,Kimberly F. Doheny,Jane Romm,Caroline C W Klaver,Caroline Hayward,Michael B. Gorin,Michael L. Klein,Paul N. Baird,Anneke I. den Hollander,Sascha Fauser,John R. WYates,John R. WYates,John R. WYates,Rando Allikmets,Jie Jin Wang,Debra A. Schaumberg,Debra A. Schaumberg,Barbara E.K. Klein,Stephanie A. Hagstrom,Itay Chowers,Andrew J. Lotery,Thierry Léveillard,Thierry Léveillard,Thierry Léveillard,Kang Zhang,Kang Zhang,Murray H. Brilliant,Alex W. Hewitt,Alex W. Hewitt,Alex W. Hewitt,Anand Swaroop,Emily Y. Chew,Margaret A. Pericak-Vance,Margaret M. DeAngelis,Dwight Stambolian,Jonathan L. Haines,Sudha K. Iyengar,Bernhard H. F. Weber,Gon'alo R. Abecasis,Iris M. Heid +185 more
TL;DR: The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
Journal ArticleDOI
Seven new loci associated with age-related macular degeneration
Lars G. Fritsche,Lars G. Fritsche,Wei Chen,Wei Chen,Matthew Schu,Brian L. Yaspan,Yi Yu,Gudmar Thorleifsson,Donald J. Zack,Donald J. Zack,Satoshi Arakawa,Valentina Cipriani,Valentina Cipriani,Stephan Ripke,Stephan Ripke,Robert P. Igo,Gabriëlle H.S. Buitendijk,Xueling Sim,Xueling Sim,Daniel E. Weeks,Robyn H. Guymer,Joanna E. Merriam,Peter J. Francis,Gregory Hannum,Anita Agarwal,Ana Maria Armbrecht,Isabelle Audo,Tin Aung,Tin Aung,Gaetano R. Barile,Mustapha Benchaboune,Alan C. Bird,Alan C. Bird,Paul N. Bishop,Kari Branham,Matthew Brooks,Alexander J. Brucker,William Cade,Melinda Cain,Peter A. Campochiaro,Chi-Chao Chan,Ching-Yu Cheng,Ching-Yu Cheng,Emily Y. Chew,Kimberly A Chin,Itay Chowers,David Clayton,Radu Cojocaru,Yvette P. Conley,Belinda K. Cornes,Mark J. Daly,Baljean Dhillon,Albert O. Edwards,Evangelos Evangelou,Jesen Fagerness,Jesen Fagerness,Henry Ferreyra,James S. Friedman,Asbjorg Geirsdottir,Ronnie George,Christian Gieger,Neel Gupta,Stephanie A. Hagstrom,Simon P. Harding,Christos Haritoglou,John R. Heckenlively,Frank G. Holz,Guy Hughes,John P. A. Ioannidis,Tatsuro Ishibashi,Peronne Joseph,Gyungah Jun,Yoichiro Kamatani,Nicholas Katsanis,Claudia N. Keilhauer,Jane C. Khan,Jane C. Khan,Jane C. Khan,Ivana K. Kim,Yutaka Kiyohara,Barbara E.K. Klein,Ronald Klein,Jaclyn L. Kovach,Igor Kozak,Clara Lee,Kristine E. Lee,Peter Lichtner,Andrew J. Lotery,Thomas Meitinger,Paul Mitchell,Saddek Mohand-Said,Anthony T. Moore,Anthony T. Moore,Denise J. Morgan,Margaux A. Morrison,Chelsea E. Myers,Adam C. Naj,Yusuke Nakamura,Yukinori Okada,Anton Orlin,M. Carolina Ortube,Mohammad Othman,Chris Pappas,Kyu Hyung Park,Gayle J.T. Pauer,Neal S. Peachey,Neal S. Peachey,Olivier Poch,Rinki Ratna Priya,Robyn Reynolds,Andrea J. Richardson,Raymond Ripp,G. Rudolph,Euijung Ryu,José-Alain Sahel,Debra A. Schaumberg,Hendrik P. N. Scholl,Hendrik P. N. Scholl,Stephen G. Schwartz,William K. Scott,Humma Shahid,Humma Shahid,Haraldur Sigurdsson,Giuliana Silvestri,Theru A. Sivakumaran,R. Theodore Smith,Lucia Sobrin,Eric H Souied,Dwight Stambolian,Hreinn Stefansson,Gwen M. Sturgill-Short,Atsushi Takahashi,Nirubol Tosakulwong,Barbara Truitt,Evangelia E. Tsironi,André G. Uitterlinden,Cornelia M. van Duijn,Lingam Vijaya,Johannes R. Vingerling,Eranga N. Vithana,Eranga N. Vithana,Andrew R. Webster,Andrew R. Webster,H.-Erich Wichmann,Thomas W. Winkler,Tien Yin Wong,Tien Yin Wong,Tien Yin Wong,Alan F. Wright,Diana Zelenika,Ming Zhang,Ming Zhang,Ling Zhao,Kang Zhang,Kang Zhang,Michael L. Klein,Gregory S. Hageman,Mark Lathrop,Kari Stefansson,Kari Stefansson,Rando Allikmets,Paul N. Baird,Michael B. Gorin,Jie Jin Wang,Jie Jin Wang,Caroline C W Klaver,Johanna M. Seddon,Margaret A. Pericak-Vance,Sudha K. Iyengar,John R.W. Yates,John R.W. Yates,John R.W. Yates,Anand Swaroop,Anand Swaroop,Bernhard H. F. Weber,Michiaki Kubo,Margaret M. DeAngelis,Thierry Léveillard,Thierry Léveillard,Thierry Léveillard,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Jonathan L. Haines,Lindsay A. Farrer,Iris M. Heid,Gonçalo R. Abecasis +185 more
TL;DR: A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis.
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
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
Xiaowei Zhan,David E. Larson,Chaolong Wang,Chaolong Wang,Daniel C. Koboldt,Yuri V. Sergeev,Robert S. Fulton,Lucinda Fulton,Catrina Fronick,Kari Branham,Jennifer L. Bragg-Gresham,Goo Jun,Youna Hu,Hyun Min Kang,Dajiang J. Liu,Mohammad Othman,Matthew Brooks,Rinki Ratnapriya,Alexis Boleda,Felix Grassmann,Claudia N von Strachwitz,Lana M. Olson,Gabriëlle H.S. Buitendijk,Albert Hofman,Cornelia M. van Duijn,Valentina Cipriani,Valentina Cipriani,Anthony T. Moore,Anthony T. Moore,Humma Shahid,Humma Shahid,Yingda Jiang,Yvette P. Conley,Denise J. Morgan,Ivana K. Kim,Matthew P. Johnson,Stuart Cantsilieris,Andrea J. Richardson,Robyn H. Guymer,Hongrong Luo,Hong Ouyang,Christoph Licht,Fred G. Pluthero,Mindy M. Zhang,Kang Zhang,Paul N. Baird,John Blangero,Michael L. Klein,Lindsay A. Farrer,Margaret M. DeAngelis,Daniel E. Weeks,Michael B. Gorin,John R.W. Yates,John R.W. Yates,John R.W. Yates,Caroline C W Klaver,Margaret A. Pericak-Vance,Jonathan L. Haines,Bernhard H. F. Weber,Richard K. Wilson,John R. Heckenlively,Emily Y. Chew,Dwight Stambolian,Elaine R. Mardis,Anand Swaroop,Gonçalo R. Abecasis +65 more
TL;DR: Two large-effect rare coding variants associated with a large increase in risk of age-related macular degeneration suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.