E
Emmanuelle Souzeau
Researcher at Flinders Medical Centre
Publications - 88
Citations - 4387
Emmanuelle Souzeau is an academic researcher from Flinders Medical Centre. The author has contributed to research in topics: Glaucoma & Medicine. The author has an hindex of 22, co-authored 75 publications receiving 3353 citations. Previous affiliations of Emmanuelle Souzeau include Flinders University & Université de Montréal.
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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
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Kathryn P. Burdon,Stuart MacGregor,Alex W. Hewitt,Alex W. Hewitt,Shiwani Sharma,Glyn Chidlow,Richard A. Mills,Patrick Danoy,Robert J Casson,Ananth C. Viswanathan,Jimmy Z. Liu,John Landers,Anjali K. Henders,John P. M. Wood,Emmanuelle Souzeau,April Crawford,Paul Leo,Jie Jin Wang,Jie Jin Wang,Elena Rochtchina,Dale R. Nyholt,Nicholas G. Martin,Grant W. Montgomery,Paul Mitchell,Matthew A. Brown,David A. Mackey,David A. Mackey,David A. Mackey,Jamie E Craig +28 more
TL;DR: The genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss and 3,956 controls shows retinal expression of genes at both loci at TMCO1 and CDKN2B-AS1 in human ocular tissues.
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Kathryn P. Burdon,Stuart MacGregor,Alex W. Hewitt,Shiwani Sharma,Glyn Chidlow,Richard A. Mills,Patrick Danoy,Robert J Casson,Ananth C. Viswanathan,Jimmy Z. Liu,John Landers,Anjali K. Henders,John P. M. Wood,Emmanuelle Souzeau,April Crawford,Paul Leo,Jie Jin Wang,Elena Rochtchina,Dale R. Nyholt,Nicholas G. Martin,Grant W. Montgomery,Paul Mitchell,Brown,David A. Mackey,Jamie E Craig +24 more
TL;DR: This paper reported a genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 controls.
Journal ArticleDOI
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration
Gabriel Cuellar-Partida,Jamie E Craig,Kathryn P. Burdon,Jie Jin Wang,Brendan J Vote,Emmanuelle Souzeau,Ian L. McAllister,Timothy Isaacs,Stewart Lake,David A. Mackey,David A. Mackey,Ian J. Constable,Paul Mitchell,Alex W. Hewitt,Alex W. Hewitt,Stuart MacGregor +15 more
TL;DR: The genetic architecture of POAG and AMD is investigated using genome-wide array data and it is found that the genetic correlation between sexes for POAG was likely to be less than 1, suggesting that differences of prevalence among genders may be partly due to heritable factors.
Journal ArticleDOI
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
Puya Gharahkhani,Kathryn P. Burdon,Kathryn P. Burdon,Rhys Fogarty,Shiwani Sharma,Alex W. Hewitt,Sarah Martin,Matthew Law,Katie Cremin,Jessica N. Cooke Bailey,Jessica N. Cooke Bailey,Stephanie Loomis,Louis R. Pasquale,Jonathan L. Haines,Jonathan L. Haines,Michael A. Hauser,Ananth C. Viswanathan,Peter McGuffin,Fotis Topouzis,Paul J. Foster,Stuart L. Graham,Robert J Casson,Mark Chehade,Andrew White,Tiger Zhou,Emmanuelle Souzeau,John Landers,Jude Fitzgerald,Sonja Klebe,Jonathan B Ruddle,Ivan Goldberg,Paul R. Healey,Richard A. Mills,Jie Jin Wang,Grant W. Montgomery,Nicholas G. Martin,Graham L. Radford-Smith,Graham L. Radford-Smith,David C. Whiteman,Matthew A. Brown,Janey L. Wiggs,David A. Mackey,David A. Mackey,Paul Mitchell,Stuart MacGregor,Jamie E Craig +45 more
TL;DR: This paper investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts and two US replication cohorts (2,616 cases and 2,634 controls total) and Meta-analysis of all cohorts identified three loci newly associated with development of primary open-angle glaucoma.