Publications by authors named "Kathryn P Burdon"

100Publications

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Authors:
Maria Teresa Landi D Timothy Bishop Stuart MacGregor Mitchell J Machiela Alexander J Stratigos Paola Ghiorzo Myriam Brossard Donato Calista Jiyeon Choi Maria Concetta Fargnoli Tongwu Zhang Monica Rodolfo Adam J Trower Chiara Menin Jacobo Martinez Andreas Hadjisavvas Lei Song Irene Stefanaki Richard Scolyer Rose Yang Alisa M Goldstein Miriam Potrony Katerina P Kypreou Lorenza Pastorino Paola Queirolo Cristina Pellegrini Laura Cattaneo Matthew Zawistowski Pol Gimenez-Xavier Arantxa Rodriguez Lisa Elefanti Siranoush Manoukian Licia Rivoltini Blair H Smith Maria A Loizidou Laura Del Regno Daniela Massi Mario Mandala Kiarash Khosrotehrani Lars A Akslen Christopher I Amos Per A Andresen Marie-Françoise Avril Esther Azizi H Peter Soyer Veronique Bataille Bruna Dalmasso Lisa M Bowdler Kathryn P Burdon Wei V Chen Veryan Codd Jamie E Craig Tadeusz Dębniak Mario Falchi Shenying Fang Eitan Friedman Sarah Simi Pilar Galan Zaida Garcia-Casado Elizabeth M Gillanders Scott Gordon Adele Green Nelleke A Gruis Johan Hansson Mark Harland Jessica Harris Per Helsing Anjali Henders Marko Hočevar Veronica Höiom David Hunter Christian Ingvar Rajiv Kumar Julie Lang G Mark Lathrop Jeffrey E Lee Xin Li Jan Lubiński Rona M Mackie Maryrose Malt Josep Malvehy Kerrie McAloney Hamida Mohamdi Anders Molven Eric K Moses Rachel E Neale Srdjan Novaković Dale R Nyholt Håkan Olsson Nicholas Orr Lars G Fritsche Joan Anton Puig-Butille Abrar A Qureshi Graham L Radford-Smith Juliette Randerson-Moor Celia Requena Casey Rowe Nilesh J Samani Marianna Sanna Dirk Schadendorf Hans-Joachim Schulze Lisa A Simms Mark Smithers Fengju Song Anthony J Swerdlow Nienke van der Stoep Nicole A Kukutsch Alessia Visconti Leanne Wallace Sarah V Ward Lawrie Wheeler Richard A Sturm Amy Hutchinson Kristine Jones Michael Malasky Aurelie Vogt Weiyin Zhou Karen A Pooley David E Elder Jiali Han Belynda Hicks Nicholas K Hayward Peter A Kanetsky Chad Brummett Grant W Montgomery Catherine M Olsen Caroline Hayward Alison M Dunning Nicholas G Martin Evangelos Evangelou Graham J Mann Georgina Long Paul D P Pharoah Douglas F Easton Jennifer H Barrett Anne E Cust Goncalo Abecasis David L Duffy David C Whiteman Helen Gogas Arcangela De Nicolo Margaret A Tucker Julia A Newton-Bishop Ketty Peris Stephen J Chanock Florence Demenais Kevin M Brown Susana Puig Eduardo Nagore Jianxin Shi Mark M Iles Matthew H Law

Nat Genet 2020 05 27;52(5):494-504. Epub 2020 Apr 27.

Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/s41588-020-0611-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255059PMC
May 2020

Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441-456.

Diabetes 2020 Jun 27;69(6):1306. Epub 2020 Apr 27.

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http://dx.doi.org/10.2337/db20-er06aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243291PMC
June 2020

Genetic and Environmental Risk Factors for Keratoconus.

Annu Rev Vis Sci 2020 Sep 22;6:25-46. Epub 2020 Apr 22.

Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania 7001, Australia; email:

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http://dx.doi.org/10.1146/annurev-vision-121219-081723DOI Listing
September 2020

MicroRNA-Related Genetic Variants Are Associated With Diabetic Retinopathy in Type 1 Diabetes Mellitus.

Invest Ophthalmol Vis Sci 2019 09;60(12):3937-3942

Department of Ophthalmology, Flinders University, College of Medicine and Public Health, Flinders Medical Centre, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1167/iovs.18-25570DOI Listing
September 2019

Epha2 genotype influences ultraviolet radiation induced cataract in mice.

Exp Eye Res 2019 11 17;188:107806. Epub 2019 Sep 17.

Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2019.107806DOI Listing
November 2019

Use of Corneal Biomechanical Measures as Endophenotypes for Understanding the Genetics of Keratoconus.

Authors:
Kathryn P Burdon

JAMA Ophthalmol 2019 Jun 27. Epub 2019 Jun 27.

Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.

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http://dx.doi.org/10.1001/jamaophthalmol.2019.2068DOI Listing
June 2019

The Association Between Vitamin D and Multiple Sclerosis Risk: 1,25(OH)D Induces Super-Enhancers Bound by VDR.

Front Immunol 2019 19;10:488. Epub 2019 Mar 19.

Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.

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http://dx.doi.org/10.3389/fimmu.2019.00488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433938PMC
September 2020

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Nat Commun 2019 01 8;10(1):155. Epub 2019 Jan 8.

Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4029, Australia.

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http://www.nature.com/articles/s41467-018-07819-1
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http://dx.doi.org/10.1038/s41467-018-07819-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325104PMC
January 2019

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.

Diabetes 2019 02 28;68(2):441-456. Epub 2018 Nov 28.

Massachusetts Eye and Ear Department of Ophthalmology, Harvard Medical School, Boston, MA

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http://dx.doi.org/10.2337/db18-0567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341299PMC
February 2019

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.

PLoS One 2017 23;12(8):e0183719. Epub 2017 Aug 23.

Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0183719PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5568371PMC
November 2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1038/ng.3875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685441PMC
July 2017

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

Eur J Hum Genet 2017 06 8;25(6):711-718. Epub 2017 Mar 8.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2017.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477362PMC
June 2017

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

Hum Mol Genet 2017 01;26(2):438-453

Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.

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http://dx.doi.org/10.1093/hmg/ddw399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5968632PMC
January 2017

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals.

Ophthalmology 2017 03 16;124(3):303-309. Epub 2016 Dec 16.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.11.011DOI Listing
March 2017

Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population.

Invest Ophthalmol Vis Sci 2016 11;57(14):6418

Department of Ophthalmology Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1167/iovs.16-20917DOI Listing
November 2016

Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.

Ophthalmic Genet 2017 Mar-Apr;38(2):171-174. Epub 2016 Apr 20.

a Centre for Ophthalmology and Visual Science/Lions Eye Institute, University of Western Australia , Perth , Western Australia , Australia.

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http://dx.doi.org/10.3109/13816810.2016.1164195DOI Listing
November 2017

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.

BMC Med Genet 2016 Apr 14;17:30. Epub 2016 Apr 14.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.

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http://dx.doi.org/10.1186/s12881-016-0291-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831102PMC
April 2016

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Authors:
Chiea Chuen Khor Tan Do Hongyan Jia Masakazu Nakano Ronnie George Khaled Abu-Amero Roopam Duvesh Li Jia Chen Zheng Li Monisha E Nongpiur Shamira A Perera Chunyan Qiao Hon-Tym Wong Hiroshi Sakai Mônica Barbosa de Melo Mei-Chin Lee Anita S Chan Yaakub Azhany Thi Lam Huong Dao Yoko Ikeda Rodolfo A Perez-Grossmann Tomasz Zarnowski Alexander C Day Jost B Jonas Pancy O S Tam Tuan Anh Tran Humaira Ayub Farah Akhtar Shazia Micheal Paul T K Chew Leyla A Aljasim Tanuj Dada Tam Thi Luu Mona S Awadalla Naris Kitnarong Boonsong Wanichwecharungruang Yee Yee Aung Jelinar Mohamed-Noor Saravanan Vijayan Sripriya Sarangapani Rahat Husain Aliza Jap Mani Baskaran David Goh Daniel H Su Huaizhou Wang Vernon K Yong Leonard W Yip Tuyet Bach Trinh Manchima Makornwattana Thanh Thu Nguyen Edgar U Leuenberger Ki-Ho Park Widya Artini Wiyogo Rajesh S Kumar Celso Tello Yasuo Kurimoto Suman S Thapa Kessara Pathanapitoon John F Salmon Yong Ho Sohn Antonio Fea Mineo Ozaki Jimmy S M Lai Visanee Tantisevi Chaw Chaw Khaing Takanori Mizoguchi Satoko Nakano Chan-Yun Kim Guangxian Tang Sujie Fan Renyi Wu Hailin Meng Thi Thuy Giang Nguyen Tien Dat Tran Morio Ueno Jose Maria Martinez Norlina Ramli Yin Mon Aung Rigo Daniel Reyes Stephen A Vernon Seng Kheong Fang Zhicheng Xie Xiao Yin Chen Jia Nee Foo Kar Seng Sim Tina T Wong Desmond T Quek Rengaraj Venkatesh Srinivasan Kavitha Subbiah R Krishnadas Nagaswamy Soumittra Balekudaru Shantha Boon-Ang Lim Jeanne Ogle José P C de Vasconcellos Vital P Costa Ricardo Y Abe Bruno B de Souza Chelvin C Sng Maria C Aquino Ewa Kosior-Jarecka Guillermo Barreto Fong Vania Castro Tamanaja Ricardo Fujita Yuzhen Jiang Naushin Waseem Sancy Low Huan Nguyen Pham Sami Al-Shahwan E Randy Craven Muhammad Imran Khan Rrima Dada Kuldeep Mohanty Muneeb A Faiq Alex W Hewitt Kathryn P Burdon Eng Hui Gan Anuwat Prutthipongsit Thipnapa Patthanathamrongkasem Mary Ann T Catacutan Irene R Felarca Chona S Liao Emma Rusmayani Vira Wardhana Istiantoro Giulia Consolandi Giulia Pignata Carlo Lavia Prin Rojanapongpun Lerprat Mangkornkanokpong Sunee Chansangpetch Jonathan C H Chan Bonnie N K Choy Jennifer W H Shum Hlaing May Than Khin Thida Oo Aye Thi Han Victor H Yong Xiao-Yu Ng Shuang Ru Goh Yaan Fun Chong Martin L Hibberd Mark Seielstad Eileen Png Sarah J Dunstan Nguyen Van Vinh Chau Jinxin Bei Yi Xin Zeng Abhilasha Karkey Buddha Basnyat Francesca Pasutto Daniela Paoli Paolo Frezzotti Jie Jin Wang Paul Mitchell John H Fingert R Rand Allingham Michael A Hauser Soon Thye Lim Soo Hong Chew Richard P Ebstein Anavaj Sakuntabhai Kyu Hyung Park Jeeyun Ahn Greet Boland Harm Snippe Richard Stead Raquel Quino Su Nyunt Zaw Urszula Lukasik Rohit Shetty Mimiwati Zahari Hyoung Won Bae Nay Lin Oo Toshiaki Kubota Anita Manassakorn Wing Lau Ho Laura Dallorto Young Hoon Hwang Christine A Kiire Masako Kuroda Zeiras Eka Djamal Jovell Ian M Peregrino Arkasubhra Ghosh Jin Wook Jeoung Tung S Hoan Nuttamon Srisamran Thayanithi Sandragasu Saw Htoo Set Vi Huyen Doan Shomi S Bhattacharya Ching-Lin Ho Donald T Tan Ramanjit Sihota Seng-Chee Loon Kazuhiko Mori Shigeru Kinoshita Anneke I den Hollander Raheel Qamar Ya-Xing Wang Yik Y Teo E-Shyong Tai Curt Hartleben-Matkin David Lozano-Giral Seang Mei Saw Ching-Yu Cheng Juan C Zenteno Chi Pui Pang Huong T T Bui Owen Hee Jamie E Craig Deepak P Edward Michiko Yonahara Jamil Miguel Neto Maria L Guevara-Fujita Liang Xu Robert Ritch Ahmad Tajudin Liza-Sharmini Tien Y Wong Saleh Al-Obeidan Nhu Hon Do Periasamy Sundaresan Clement C Tham Paul J Foster Lingam Vijaya Kei Tashiro Eranga N Vithana Ningli Wang Tin Aung

Nat Genet 2016 May 4;48(5):556-62. Epub 2016 Apr 4.

Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.

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http://www.nature.com/articles/ng.3540
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http://dx.doi.org/10.1038/ng.3540DOI Listing
May 2016

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Authors:
Qiao Fan Virginie J M Verhoeven Robert Wojciechowski Veluchamy A Barathi Pirro G Hysi Jeremy A Guggenheim René Höhn Veronique Vitart Anthony P Khawaja Kenji Yamashiro S Mohsen Hosseini Terho Lehtimäki Yi Lu Toomas Haller Jing Xie Cécile Delcourt Mario Pirastu Juho Wedenoja Puya Gharahkhani Cristina Venturini Masahiro Miyake Alex W Hewitt Xiaobo Guo Johanna Mazur Jenifer E Huffman Katie M Williams Ozren Polasek Harry Campbell Igor Rudan Zoran Vatavuk James F Wilson Peter K Joshi George McMahon Beate St Pourcain David M Evans Claire L Simpson Tae-Hwi Schwantes-An Robert P Igo Alireza Mirshahi Audrey Cougnard-Gregoire Céline Bellenguez Maria Blettner Olli Raitakari Mika Kähönen Ilkka Seppala Tanja Zeller Thomas Meitinger Janina S Ried Christian Gieger Laura Portas Elisabeth M van Leeuwen Najaf Amin André G Uitterlinden Fernando Rivadeneira Albert Hofman Johannes R Vingerling Ya Xing Wang Xu Wang Eileen Tai-Hui Boh M Kamran Ikram Charumathi Sabanayagam Preeti Gupta Vincent Tan Lei Zhou Candice E H Ho Wan'e Lim Roger W Beuerman Rosalynn Siantar E-Shyong Tai Eranga Vithana Evelin Mihailov Chiea-Chuen Khor Caroline Hayward Robert N Luben Paul J Foster Barbara E K Klein Ronald Klein Hoi-Suen Wong Paul Mitchell Andres Metspalu Tin Aung Terri L Young Mingguang He Olavi Pärssinen Cornelia M van Duijn Jie Jin Wang Cathy Williams Jost B Jonas Yik-Ying Teo David A Mackey Konrad Oexle Nagahisa Yoshimura Andrew D Paterson Norbert Pfeiffer Tien-Yin Wong Paul N Baird Dwight Stambolian Joan E Bailey Wilson Ching-Yu Cheng Christopher J Hammond Caroline C W Klaver Seang-Mei Saw Jugnoo S Rahi Jean-François Korobelnik John P Kemp Nicholas J Timpson George Davey Smith Jamie E Craig Kathryn P Burdon Rhys D Fogarty Sudha K Iyengar Emily Chew Sarayut Janmahasatian Nicholas G Martin Stuart MacGregor Liang Xu Maria Schache Vinay Nangia Songhomitra Panda-Jonas Alan F Wright Jeremy R Fondran Jonathan H Lass Sheng Feng Jing Hua Zhao Kay-Tee Khaw Nick J Wareham Taina Rantanen Jaakko Kaprio Chi Pui Pang Li Jia Chen Pancy O Tam Vishal Jhanji Alvin L Young Angela Döring Leslie J Raffel Mary-Frances Cotch Xiaohui Li Shea Ping Yip Maurice K H Yap Ginevra Biino Simona Vaccargiu Maurizio Fossarello Brian Fleck Seyhan Yazar Jan Willem L Tideman Milly Tedja Margaret M Deangelis Margaux Morrison Lindsay Farrer Xiangtian Zhou Wei Chen Nobuhisa Mizuki Akira Meguro Kari Matti Mäkelä

Nat Commun 2016 Mar 29;7:11008. Epub 2016 Mar 29.

Department of Ophthalmology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ncomms11008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820539PMC
March 2016

Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome.

Exp Eye Res 2016 05 18;146:212-23. Epub 2016 Mar 18.

Department of Ophthalmology, Flinders University, Bedford Park, South Australia 5042, Australia.

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http://dx.doi.org/10.1016/j.exer.2016.03.013DOI Listing
May 2016

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.

Transl Vis Sci Technol 2016 Feb 9;5(1). Epub 2016 Feb 9.

Department of Ophthalmology Flinders University, Flinders Medical Centre, Adelaide, Australia.

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http://tvst.arvojournals.org/article.aspx?doi=10.1167/tvst.5
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http://dx.doi.org/10.1167/tvst.5.1.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757467PMC
February 2016

EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.

Mol Vis 2016 14;22:18-30. Epub 2016 Jan 14.

Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4734147PMC
October 2016

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

BMC Res Notes 2016 Feb 11;9:83. Epub 2016 Feb 11.

Department of Ophthalmology, School of Medicine, Flinders Medical Centre, Flinders University, Rm 4D 111.1, Flinders Dr, Bedford Park, Adelaide, 5042, Australia.

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http://dx.doi.org/10.1186/s13104-016-1890-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750205PMC
February 2016

Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy.

Diab Vasc Dis Res 2016 Mar 28;13(2):164-7. Epub 2016 Jan 28.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS, Australia.

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http://dx.doi.org/10.1177/1479164115616902DOI Listing
March 2016

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Nat Genet 2016 Feb 11;48(2):189-94. Epub 2016 Jan 11.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

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http://search.proquest.com/openview/9583d4c1af74c01602d422b2
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http://www.nature.com/doifinder/10.1038/ng.3482
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http://dx.doi.org/10.1038/ng.3482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731307PMC
February 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
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 Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner 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 Guenther 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 Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt 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 G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S 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 W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Differential Gene Expression Profiling of Orbital Adipose Tissue in Thyroid Orbitopathy.

Invest Ophthalmol Vis Sci 2015 Oct;56(11):6438-47

Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia.

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http://dx.doi.org/10.1167/iovs.15-17185DOI Listing
October 2015

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

Nat Genet 2015 Sep 3;47(9):987-995. Epub 2015 Aug 3.

Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1038/ng.3373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557485PMC
September 2015

Role of direct-to-consumer genetic testing for complex disease in diagnostics and research.

Authors:
Kathryn P Burdon

Clin Exp Ophthalmol 2015 Aug;43(6):503-4

Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.

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http://dx.doi.org/10.1111/ceo.12565DOI Listing
August 2015

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-Ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Naderi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michae Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Jun;47(6):689

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http://dx.doi.org/10.1038/ng0615-689cDOI Listing
June 2015

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Nederi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michael Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Apr 23;47(4):387-92. Epub 2015 Feb 23.

1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. [3] Division of Human Genetics, Genome Institute of Singapore, Singapore.

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http://dx.doi.org/10.1038/ng.3226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605818PMC
April 2015

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.

Genet Epidemiol 2015 Mar 28;39(3):207-16. Epub 2015 Jan 28.

Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.

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http://eprints.soton.ac.uk/369296/1/ncomms5883.pdf
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http://doi.wiley.com/10.1002/gepi.21886
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480365PMC
March 2015

Does the association between TMEM98 and nanophthalmos require further confirmation?-Reply.

JAMA Ophthalmol 2015 Mar;133(3):359-60

Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.4919DOI Listing
March 2015

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Nat Commun 2014 Sep 22;5:4883. Epub 2014 Sep 22.

Department of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199103PMC
September 2014

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Nat Genet 2014 Oct 31;46(10):1126-1130. Epub 2014 Aug 31.

Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

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http://dx.doi.org/10.1038/ng.3087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177225PMC
October 2014

Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene.

Clin Exp Ophthalmol 2015 Mar 15;43(2):189-90. Epub 2014 Aug 15.

Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia; Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/ceo.12388DOI Listing
March 2015

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

JAMA Ophthalmol 2014 Aug;132(8):970-7

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.

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http://archopht.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaophthalmol.2014.946DOI Listing
August 2014

Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma.

Gene 2014 Jul 21;545(2):271-5. Epub 2014 Apr 21.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.

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http://dx.doi.org/10.1016/j.gene.2014.04.033DOI Listing
July 2014

Review of the prevalence of diabetic retinopathy in Indigenous Australians.

Clin Exp Ophthalmol 2014 Dec 5;42(9):875-82. Epub 2014 May 5.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.

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http://doi.wiley.com/10.1111/ceo.12338
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December 2014

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma.

Genet Med 2014 Jul 9;16(7):558-63. Epub 2014 Jan 9.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.

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http://www.nature.com/articles/gim2013196
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http://dx.doi.org/10.1038/gim.2013.196DOI Listing
July 2014

Serum selenium status in Graves' disease with and without orbitopathy: a case-control study.

Clin Endocrinol (Oxf) 2014 Jun 30;80(6):905-10. Epub 2014 Jan 30.

NorthWest Academic Centre, The University of Melbourne, Western Health, St. Albans, Australia; Orbital Plastics and Lacrimal Unit, The Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.

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http://dx.doi.org/10.1111/cen.12392DOI Listing
June 2014

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.

Authors:
Ching-Yu Cheng Maria Schache M Kamran Ikram Terri L Young Jeremy A Guggenheim Veronique Vitart Stuart MacGregor Virginie J M Verhoeven Veluchamy A Barathi Jiemin Liao Pirro G Hysi Joan E Bailey-Wilson Beate St Pourcain John P Kemp George McMahon Nicholas J Timpson David M Evans Grant W Montgomery Aniket Mishra Ya Xing Wang Jie Jin Wang Elena Rochtchina Ozren Polasek Alan F Wright Najaf Amin Elisabeth M van Leeuwen James F Wilson Craig E Pennell Cornelia M van Duijn Paulus T V M de Jong Johannes R Vingerling Xin Zhou Peng Chen Ruoying Li Wan-Ting Tay Yingfeng Zheng Merwyn Chew Kathryn P Burdon Jamie E Craig Sudha K Iyengar Robert P Igo Jonathan H Lass Emily Y Chew Toomas Haller Evelin Mihailov Andres Metspalu Juho Wedenoja Claire L Simpson Robert Wojciechowski René Höhn Alireza Mirshahi Tanja Zeller Norbert Pfeiffer Karl J Lackner Thomas Bettecken Thomas Meitinger Konrad Oexle Mario Pirastu Laura Portas Abhishek Nag Katie M Williams Ekaterina Yonova-Doing Ronald Klein Barbara E Klein S Mohsen Hosseini Andrew D Paterson Kari-Matti Makela Terho Lehtimaki Mika Kahonen Olli Raitakari Nagahisa Yoshimura Fumihiko Matsuda Li Jia Chen Chi Pui Pang Shea Ping Yip Maurice K H Yap Akira Meguro Nobuhisa Mizuki Hidetoshi Inoko Paul J Foster Jing Hua Zhao Eranga Vithana E-Shyong Tai Qiao Fan Liang Xu Harry Campbell Brian Fleck Igor Rudan Tin Aung Albert Hofman André G Uitterlinden Goran Bencic Chiea-Chuen Khor Hannah Forward Olavi Pärssinen Paul Mitchell Fernando Rivadeneira Alex W Hewitt Cathy Williams Ben A Oostra Yik-Ying Teo Christopher J Hammond Dwight Stambolian David A Mackey Caroline C W Klaver Tien-Yin Wong Seang-Mei Saw Paul N Baird

Am J Hum Genet 2013 Aug;93(2):264-77

Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore; Centre for Quantitative Medicine, Office of Clinical Sciences, Duke-National University of Singapore Graduate Medical School, Singapore 169857, Singapore.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772747PMC
August 2013

Genetic study of diabetic retinopathy: recruitment methodology and analysis of baseline characteristics.

Clin Exp Ophthalmol 2014 Jul 28;42(5):486-93. Epub 2013 Oct 28.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/ceo.12239DOI Listing
July 2014

Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review.

Clin Exp Ophthalmol 2014 Jan-Feb;42(1):25-32. Epub 2013 Oct 30.

South Australian Institute of Ophthalmology, Royal Adelaide Hospital, Adelaide, South Australia, Australia; University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/ceo.12234DOI Listing
July 2014

Ocular expression and distribution of products of the POAG-associated chromosome 9p21 gene region.

PLoS One 2013 19;8(9):e75067. Epub 2013 Sep 19.

Ophthalmic Research Laboratories, South Australian Institute of Ophthalmology, Hanson Institute Centre for Neurological Diseases, Adelaide, South Australia, Australia ; Department of Ophthalmology and Visual Sciences, University of Adelaide, Adelaide, South Australia, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075067PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777912PMC
June 2014

Association of genetic variants with primary angle closure glaucoma in two different populations.

PLoS One 2013 28;8(6):e67903. Epub 2013 Jun 28.

Department of Ophthalmology, Flinders University, Flinders Medical Centre Adelaide, South Australia, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0067903PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695871PMC
April 2014

Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.

Invest Ophthalmol Vis Sci 2013 Jul 30;54(7):5132-5. Epub 2013 Jul 30.

Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1167/iovs.13-12377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729241PMC
July 2013

Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.

Clin Exp Ophthalmol 2014 Mar 22;42(2):198-200. Epub 2013 May 22.

Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia.

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http://dx.doi.org/10.1111/ceo.12122DOI Listing
March 2014