Ocular Genetics

Researcher

Research Overview

Research in the Ocular Genetics lab focuses on using a range of cutting edge genetic techniques combined with informatics to identify gene and environmental determinants of common complex eye diseases. A particular focus is made on age related macular degeneration (AMD), myopia and keratoconus. Current projects involve the use of genome wide association, whole exome sequencing, methylation, copy number studies and gene-gene interaction studies with the aim of personalising patient care. Prof Baird is a member of the Consortium for Refractive Error and Myopia (CREAM) and the International AMD Genomics Consortium (IAMDGC) and is currently collaborating with a number of national and international groups using large population and data resources to unlock the causes of these eye diseases.

Current projects in AMD  include investigating the role of gene-gene interactions using high throughput computational analysis across the genome; pharmacogenetic studies of anti-vascular endothelial growth factors; risk prediction models identifying individuals at early disease stage and the role of the immune system in disease pathogenesis.

In the case of keratoconus, the Australian Study of Keratoconus has been established to better understand the role of genetic and environmental risk factors through the recruitment of 375 keratoconus patients. Studies include establishing a number of genetic associations with keratoconus, the role of asthma in increasing severity of this disease; the use of imaging and risk factor profile in identifying progression of disease as well as  an analysis of its economic burden.

In myopia, genetic association studies of refractive error as well as endophenotypes are being undertaken with national and international partners as well as the role that copy number plays. Additionally, gene-environmental interactions are being assessed in both adults and children to better understand the role of different risk factors in this rapidly increasing problem around the world.

Staff

Dr Srujana Sahebajda , Post Doc

Ms Andrea Richardson, RA,

Ms Nicole Tindell, database manager

Mr Netrajeith Srinivasulu, PhD Student

Mr Moeen Riaz, PhD Student

Ms Vindhya Shatdarsana, PhD Student

Ms Ke Cao, Masters (Bioinformatics Student)

Collaborators

Executive Committee of the International AMD Gene Consortium

International Consortium of Refractive Error and Myopia (CREAM)

Prof B Weber, University of Regensburg, Germany

Dr Robert Finger, University of Bonn, Germany

Dr M DeAngelis, University of Utah, USA

Prof C Pang, CUHK, Hong Kong

Dr CC Khor, Genome Institute of Singapore

Dr M Miyake, Kyoto University, Japan

A/Prof Burdon, University of Tasmania

A/Prof S MacGregor, QIMR, Queensland

Prof K Rose, University of Sydney

Prof I Morgan, ANU, Canberra

Prof P Mitchell, Westmead, University of Sydney

Dr S MacFadden, University of Newcastle, NSW

Prof E Fletcher (Anatomy and Neuroscience)

Prof J Wiley (Neuroscience)

Dr A Lonie, Victorian Life Science Computation Initiative

Prof D English, and Prof J Hopper, School of Population Health

Prof G Giles, Cancer Council of Victoria

Dr A Kowalczyk, Centre for Neural Engineering

Dr D Ferrari, Maths and Statistics

Funding

NHMRC Senior Research Fellowship Level B APP1028444. Baird. Translation of genetic findings into improved health outcomes for common eye diseases in our society

NHMRC project grant 1048082. Gu, Wiley, Baird. P2X7 mediated phagocytosis of apoptotic cells: a common mechanism underlies neurological and eye disorders

Macular Disease Foundation (Australia). Fletcher, Baird, Guymer, Wiley, Gu, Vessey

Purinergic receptors and early AMD: a novel mechanism and biomarker

Novartis Australia. Baird, Guymer. Genotyping Fluid and H2 Lucentis treatment Study

NHMRC project grant 1084081. Luu, Guymer, Baird. Novel functional imaging for age-related macular degeneration

NHMRC project grant 1104700. Burdon, Charlesworth, Baird, Mills, Sharma. Gene identification in Keratoconus – a blinding eye disease

BrightFocus. Baird, Kowalczyk. Identifying gene pathways that delineate the two late stage types of disease in age-related macular degeneration

NHMRC project grant 1034329. Rose, Baird, Morgan. Gene-environment interactions in the aetiology of myopia

Research Outcomes

1.Wickremasinghe SS, Xie, J, Lim J, Chauhan DS, Robman L, Richardson AJ, Guymer RH, BAIRD PN. (2011). Variants in the APOE Gene are Associated with Improved Treatment Outcome Following Anti-VEGF Therapy for Neovascular AMD. Invest Ophthalmol Vis Sci. 52(7):4072-9. Print 2011 Jul. (Epub, Jan 18, 2011).

2.  Adams MKM, Simpson, Aung KZ, Makeyeva GA,  Giles GG, English DR, Guymer RH, BAIRD PN, Robman LD. (2011). Abdominal Obesity and Age-Related Macular Degeneration. Am J Epidemiol. 173(11):1246-55. Epub 2011 Mar 21.

3.McKay GJ, Silvestri G, Chakravarthy U, Dasari SS, Fritsche LG, Weber BH, Keilhauer CN, Klein ML, Francis PJ, Klaver CC, Vingerling JR, Ho L, De Jong PTDV, Dean M, Sawitzke J, BAIRD PN, Guymer RH, Stambolian D, Orlin A, Seddon JM, Peter I, Wright AF, Hayward C, Lotery AJ, Ennis S, Gorin MB, Weeks DE, Kuo C-L, Hingorani AD, Sofat R, Cipriani V, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Yates JR, Webster AR, Moore AT, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J and Fletcher AE, The Rotterdam Study Group, The EUREYE Study Group and Patterson CC. (2011). Variations with age in Apolipoprotein E frequency in a pooled analysis of a large group of older people. Am J Epidemiol. 173(12):1357-64. Epub 2011 Apr 15.

4.Guymer RH, Tao LW, Goh JK, Liew D, Ischenko O, Robman LD, Aung KZ, Cipriani T, Cain M, Richardson AJ, BAIRD PN, Langham R. (2011). Identification of Urinary Biomarkers for Age-related Macular Degeneration. Invest Ophthalmol Vis Sci. 2011 Jun 28;52(7):4639-44. Print 2011 Jun.

5.Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, Tenesa A, Jones AM, Howarth K, Palles C, Broderick P, Jaeger EE, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Walker M, Penegar S, Barclay E, Whiffin N, Martin L, Ballereau S, Lloyd A, Gorman M, Lubbe S; The COGENT Consortium; The CORGI Collaborators; The EPICOLON Consortium, Howie B, Marchini J, Ruiz-Ponte C, Fernandez-Rozadilla C, Castells A, Carracedo A, Castellvi-Bel S, Duggan D, Conti D, Cazier JB, Campbell H, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, BAIRD PN, Gallinger S, Newcomb P, Hopper J, Jenkins MA, Aaltonen LA, Kerr DJ, Cheadle J, Pharoah P, Casey G, Houlston RS, Dunlop MG. (2011). Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer. PLoS Genet. 7(6):e1002105. Epub 2011 Jun 2.

6.Hageman GS, Gehrs K, Lejnine S, Bansal AT, DeAngelis M, Guymer RH, BAIRD PN, Allikmets R, Deciu C, Oeth P, Perlee LT. (2011). Clinical validation of a genetic model to estimate risk of developing choroidal neovascular age-related macular degeneration. Hum Genomics, Jul 1; 5(5):420-40.

7.Fletcher EL, Jobling AI, Vessey KA, Luu C, BAIRD PN. (2011). Animal models of eye disease. Prog Nucl Acid Res Mol Biol: Prog Mol Biol Transl Sci. 100:211-86.

8.Sahebjada S, Cantsileris S, BAIRD PN. (2011). Gene Patents Related to Common Diseases of the Eye. Recent Pat DNA Gene Seq. Dec;5(3):185-93. [Epub 2011 Aug 25].

9.Yu Y, Bhangale TR, Fagerness J, Ripke S, Thorleifsson G, Tan PL, Souied EH, Richardson AJ, Merriam JE, Buitendijk GHS, Reynolds R, Raychaudhuri S, Chin KA, Sobrin L, Evangelou E, Lee PH, Lee AY, Leveziel N, Zack DJ, Campochiaro B, Campochiaro P, Smith RT, Barile GR, Guymer RH, Hogg R, Chakravarthy U, Robman LD, Gustafsson O, Sigurdsson H, Ortamann W, Behrens TW, Stefansson K, Uitterlinden AG, van Duijn CM, Vingerling JR, Klaver CW, Allikmets R, Brantley Jr MA, BAIRD PN, Katsanis N, Thorsteinsdottir U, Ioannidis JPA, Daly MJ, Graham RR, Seddon JM. (2011). Common Variants near FRK/COL10A1 and VEGFA are Associated with Advanced Age-related Macular Degeneration. Hum Mol Genet. Sep 15;20(18):3699-709. Epub 2011 Jun 10.

10.McKay GJ, Patterson CC, Chakravarthy U, Dasari S, Klaver CC, Vingerling JR, Ho L, de Jong PT, Fletcher AE, Young IS, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Hingorani AD, Sofat R, Dean M, Sawitzke J, Seddon JM, Peter I, Webster AR, Moore AT, Yates JR, Cipriani V, Fritsche LG, Weber BH, Keilhauer CN, Lotery AJ, Ennis S, Klein ML, Francis PJ, Stambolian D, Orlin A, Gorin MB, Weeks DE, Kuo C-L, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Wright AF, Hayward C, BAIRD PN, Guymer RH, Attia J, Thakkinstian A, Sivestri G. (2011). Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies. Hum Mutat. 2011 Dec;32(12):1407-16. Epub 2011 Sep 12.

11.Williamson JF, McLure CA, Guymer RH, BAIRD PN, Millman J, Cantsilieris S, Dawkins RL. (2011). Almost total protection from age-related macular degeneration by haplotypes of the Regulators of Complement Activation. Genomics.Dec;98(6):412-21. Epub 2011 Aug 9.

12.Adams MKM, Simpson, Aung KZ, Makeyeva GA,  Giles GG, English DR, Guymer RH, Robman LD, BAIRD PN. (2012). Apolipoprotein E gene Associations in Age-Related Macular Degeneration: the Melbourne Collaborative Cohort Study. Am J Epidemiol. Mar 15;175(6):511-8. Epub 2012 Feb 10.

13.Lim JH, Wickremasinghe SS, Xie J, Chauhan DS, BAIRD PN, Robman LD, Hageman GS, Guymer RH. (2012). Delay to treatment and Visual Outcomes In Patients Treated with Anti-Vascular Endothelial Growth Factor For Age-related Macular Degeneration. Am J Ophthalmol. Apr;153(4):678-86, 686.e1-2. Epub 2012 Jan 14

14.Spain SL, Carvajal-Carmona LG, Howarth KM, Jones AM, Su Z, Cazier JB, Williams J, Aaltonen LA, Pharoah P, Kerr DJ, Cheadle J, Li L, Casey G, Vodicka P, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, BAIRD PN, Morreau H, van Wezel T, Ruiz-Ponte C, Fernandez-Rozadilla C, Carracedo A, Castells A, Castellvi-Bel S, Dunlop M, Houlston RS, Tomlinson IP. (2012). Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Hum Mol Genet. Feb 15;21(4):934-46. Epub 2011 Nov 10.

15.Adams MKM, Chong EW, Williamson E, Aung KZ, Makeyeva GA, Giles GG, English DR, Hopper J, Guymer RH, BAIRD PN, Robman LD and Simpson JA. (2012). 20/20 - Alcohol and Age Related Macular Degeneration: The Melbourne Collaborative Cohort Study. Am J Epidemiol Aug 15;176(4):289-98. Epub 2012 Jul 29.

16.Sobrin L, Ripke S, Yu Y, Fagerness J, Bhangale TR, Tan PL, Souied EH, Buitendijk GHS, Merriam JE, Richardson AJ, Raychaudhuri S, Reynolds R, Chin KA, Lee AY, Leveziel N, Zack DJ, Campochiaro P, Smith T, Barile GR, Hogg RE, Chakravarthy U, Behrens TW, Uitterlinden AG, van Duijn CM, Vingerling JR, Brantley MA Jr, BAIRD PN, Klaver CC, Allikmets R , Katsanis N, Graham RR, Ioannidis JP, Daly MJ, Seddon JM. (2012). Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology, 119(9):1874-85. Epub 2012 Jun 15.

17.Cantsilieris S, White SJ, Richardson AR, Guymer RH, BAIRD PN. (2012). Comprehensive analysis of Copy Number Polymorphisms of Genes at chromosome 1 and 10 loci associated with late Age Related Macular Degeneration. PLoS ONE;7(4):e35255. Epub 2012 Apr 25.

18.Verhoeven VJ, Hysi PG, Saw S-M, Vitart V, Mirshahi A, Guggenheim JA, Cotch MJ, Yamashiro K, BAIRD PN, Mackey DA, Wojciechowski R, Ikram K, Hewitt AW, Duggal P, Janmahasatian S, Khor C-C, Fan Q, Zhou X, Young TL, Tai E-S, Goho L-K, Li Y-J, Aung T, Vithana E, Teo Y-Y, Tay W, Sim X, Rudan I, Hayward C, Wright A, Polasek O, Campbell H, Wilson JF, Fleck BW, Nakata I, Yoshimura N, Yamada R, Matsuda F, Ohno-Matusi K, Nag A, McMahon G, Pourcain B St, Lu Y, Jugnoo SR, Cumberland PM, Bhattacharya S, Simpson CL, Atwood LD, Li X, Raffel L, Murgia F, Portas L, Despriet DD, van Koolwijk LM, Wolfram C, Lackner K, Tonjes A, Magi R, Lehtimaki T, Kahonen M, Esko T, Metspalu A, Rantanen R, Parssinen O, Klein BE, Meitinger T, Spector TD, Oostra BA, Smith, AV, de Jong PT, Hofman A, Amin N, Karssen LC, Rivadeneira F, Vingerling JR, Eiriksdottir G, Gudnason V, Doring A, Bettecken T, Uitterlinden AG, Williams C, Xeller T, Castagne R, Oexle K, van Duijn CM, Iyengar SK, Mitchell P, Wang JJ, Hohn R, Pfeiffer N, Bailey-Wilson JE, Stambolian D, Wong T-Y, Hammond CJ, Klaver CC. (2012). Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Human Genet. Sep;131(9):1467-80. Epub 2012 Jun 5.

19.Schache M, BAIRD PN. (2012). The Australian Twin Registry as a Resource for Genetic Studies into Ophthalmic Traits. Twin Res Hum Genet. Feb;16(1):52-7. Epub 2012 Nov 2

20.Hogg RE, Ong EL, Chamberlain M, Dirani M, BAIRD PN, Guymer RH, Fitzke F. (2012). Heritability of the spatial distribution and peak density of macular pigment: a classical twin study. Eye (Lond). Sept;26(9):1217-25. Epub 2012 Jun 29.

21.Schache M, BAIRD PN. (2012). Assessment of the association of matrix metalloproteinases with myopia, refractive error and ocular biometric measures in an Australian cohort. PLoS One. 7(10):e47181. Epub 2012 Oct 15.

22.Adams MK, Simpson JA, Richardson AJ, Guymer RH, Williamson E, Cantsilieris S, English DR, Aung KZ, Makeyeva GA, Giles GG, Hopper J, Robman LD, BAIRD PN. (2012). Can Genetic Associations Change with Age? CFH and Age-Related Macular Degeneration. Hum Mol Genet. Dec 1;21(23):5229-36. Epub 2012 Aug 29.

23.Wei L, Liu B, Tuo J, Shen D, Chen P, Li Z, Liu X, Ni J, Dagur P, Sen HN, Jawad S, Ling D, Park S, Chakrabarty S, Meyerle C, Agron E, Ferris FL 3rd, Chew EY, McCoy JP, Blum E, Francis PJ, Klein ML, Guymer RH, BAIRD PN, Chan CC, Nussenblatt RB. (2012). Hypomethylation of IL17RC Promoter Associates with Age-related Macular Degeneration. Cell Rep. Nov 29;2(5):1151-8. Epub 2012 Nov 21.

24.Schache M, Richardson AJ, Mitchell P, Wang JJ, Rochtchina E, Viswanathan AC, Wong TY, Saw SM, Topouzis F, Xie J, Sim X, Holliday EG, Attia J, Scott RJ, BAIRD PN. (2013). Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountain Eye Study cohort. Ophthalmol. Feb;120(2):292-7. Epub 2012 Nov 3.

25.Abedi F, Wickremasinghe S, Richardson AJ, Makalic E, Schmidt DF, Sandhu SS, BAIRD PN,* Guymer RH.* (2013). Variants in the VEGFA Gene and Treatment Outcome after Anti-VEGF Treatment for Neovascular Age Related Macular Degeneration. Ophthalmol. Jan;120(1):115-21. Epub 2012 Nov 11.

*These authors contributed equally

26.Holliday EG, Smith AV, Cornes B, Buitendijk GHS, Jensen RA, Sim X, Aspelund T, Aung T, BAIRD PN, Boerwinkle E, Cheng CY, van Duijn CM, Eiriksdottir G, Gudnason V, Harris T, Hewitt AW, Inouye M, Jonasson F, Klein BEK, Launer L, Li X, Liew G, McElduff P, Mitchell P, Psaty BM, Rochtchina E, Rotter JI,  Scott R, Tay W, Teo YY, Uitterlinden AG, Viswanathan A, Xie S, Wellcome Trust Case Control Consortium 2, Vingerling JR, Klaver CCW, Tai ES, Siscovick D, Klein R, Cotch MF,  Wong TY, Attia J, Wang JJ. (2013). Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: a Genome-wide Association Study Meta-analysis. PLoS One;8(1):e53830. doi: 10.1371/journal.pone.0053830. Epub 2013 Jan 11

27.Gu BJ*, BAIRD PN*, Vessey KA, Skarratt KK, Fletcher EL, Fuller SJ, Richardson AJ, Guymer RH, Wiley JS. (2013). A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age related macular degeneration. FASEB J. Apr;27(4):1479-87. Epub 2013 Jan 9.

*Joint first author

28.Cohn AC, Busija L, Robman LD, Dimitrov PN, Varsamidis M, Lim LL, BAIRD PN, Guymer RH. (2013). Younger Siblings, C-reactive Protein and Risk of Age-related Macular Degeneration. Am J Epidemiol Aug;120(8):1641-8. Epub 2013 Apr 9.

29.Kaur I, Cantsilieris S, Katta S, Richardson AJ, Schache M, Pappuru RR, Narayanan R, Mathai A, Majji AB, Tindill N, Guymer RH, Chakrabarti S, BAIRD PN. (2013). Association of the del443ins54 at the ARMS2 locus in Indian and Australian cohorts with Age-Related Macular Degeneration. Mol Vis Apr 5;19:822-8. Accepted 21st June 2012).

30.Aung KZ, Makeyeva G, Adams MK, Chong EW-T, Busija L, Giles GG, English DR, Hopper J, BAIRD PN, Guymer RH, Robman LD. (2013). The Prevalence and Risk Factors for Epiretinal Membrane in Older Australians of Southern European or Northern European origin: The Melbourne Collaborative Cohort Study (MCCS), Retina. May;33(5):1026-34.

31.Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng C-Y, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GHS, McMahon G, Kemp JP, St. Pourcain B, Simpson CL, Mäkelä K-M, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DWH, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BEK, Klein R, Haller T, Metspalu A, Khor CC , Tai E-S, Aung T, Vithana E, Tay W-T, Barathi VA, the CREAM Consortium, Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, the DCCT/EDIC Research Group, Evans DM, Timpson NJ, Verkerk AJMH, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Wellcome Trust Case Control Consortium 2, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasathian S, Igo Jr  RP, Lass JH, Chew E, Iyengar SK, the Fuchs’ Genetics Multi-Center Study Group, Gorgels TGMF, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AAB, Teo Y-Y, Rahi JS, Vitart V, Williams C, BAIRD PN, Wong T-Y, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw S-M, Wilson JEB, Stambolian D, Klaver CC, Hammond CJ. (2013). Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet. Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10.

32.The AMD Gene Consortium. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GHS, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain M, Campochiaro PA, Chan C-C, Cheng C-Y, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley, YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness, J, Ferreyra HA, Friednman JS, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding S, Haritoglou C, Heckenlively JR, Holz, FG, Hughs G, Ioannidis JPA, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, Keilhauer CN, Khan JC, Kim IK, Kiyohara Y, Klein EK, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman M, Pappas C, Park K-H, Pauer GJT, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp, R, Rudolph G, Ryu E, Sahel J-A, Schaumberg DA, Scholl HPN, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefasson H, Sturgill –Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann E, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang L, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R*, BAIRD PN*, Gorin MB*, Wang JJ*, Klaver CCW*, Seddon JM*, Pericak-Vance MA*, Iyengar SK*, Yates JRW*, Swaroop A*, Weber BHF*, Kubo M*, DeAngelis MM*, Léveillard T*, Thorsteinsdottir U*, Haines JL*, Farrer LA*, Heid IM*, Abecasis GR*. (2013). Seven New Loci Associated with Age-Related Macular Degeneration. Nat Genet. Apr;45(4):433-9. doi: 10.1038/ng.2578. Epub 2013 Mar 3 (accepted 11th Feb 2013).

*Joint last author

33.Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel LJ, Cotch MF, Chew EY, Klein B, Klein R, Wong TY, Simpson CL, Klaver CC, van Duijn CM, Verhoeven VJ, BAIRD PN, Vitart V, Paterson AD, Mitchell P, Saw SM, Fossarello M, Kazmierkiewicz K, Murgia F, Portas L, Schache M, Richardson A, Xie J, Wang JJ, Rochtchina E; DCCT/EDIC Research Group, Viswanathan AC, Hayward C, Wright AF, Polasek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Hosseini SM, Döring A, Bettecken T, Vatavuk Z, Gieger C, Wichmann HE, Wilson JF, Fleck B, Foster PJ, Topouzis F, McGuffin P, Sim X, Inouye M, Holliday EG, Attia J, Scott RJ, Rotter JI, Meitinger T, Bailey-Wilson JE. (2013). Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. Hum Mol Genet. Jul 1;22(13):2754-64. Epub 2013 Mar 7.

34.Jensen RA, Sim X, Li X, Cotch MF, Ikram MK, Holliday EG, Eiriksdottir G, Harris TB, Jonasson F, Klein BE, Launer LJ, Smith AV, Boerwinkle E, Cheung N, Hewitt AW, Liew G, Mitchell P, Wang JJ, Attia J, Scott R, Glazer NL, Lumley T, McKnight B, Psaty BM, Taylor K, Hofman A, de Jong PT, Rivadeneira F, Uitterlinden AG, Tay WT, Teo YY, Seielstad M, Liu J, Cheng CY, Saw SM, Aung T, Ganesh SK, O'Donnell CJ, Nalls MA, Wiggins KL, Kuo JZ; Blue Mountains Eye Study GWAS Team; CKDGen Consortium, van Duijn CM, Gudnason V, Klein R, Siscovick DS, Rotter JI, Tai ES, Vingerling J, Wong TY. (2013). Genome-wide association study of retinopathy in individuals without diabetes. PLoS One. 2013;8(2):e54232. doi: 10.1371/journal.pone.0054232. Epub 2013 Feb 5.

35.Verhoeven VJM, Buitendijk GHS, Consortium for Refractive Error and Myopia (CREAM), Rivandeneira F, Uitterlinden AG, Vingerling JR, Hofman A, Klaver CCW. (2013). Education influences the role of genetics in myopia. Eur J Epidemiol; 28(12): 973–980.

36.BAIRD PN and Wei L. (2013). Age related macular degeneration and DNA methylation. Epigenomics 5(3):239-241.

37.Abedi F, Wickremasinghe S, Richardson AJ, Islam FM, Guymer RH. BAIRD PN. (2013). Genetic influences on the outcome of anti-vascular endothelial growth factor treatment in neovascular AMD. Ophthalmology. Aug;120(8):1641-8. Epub 2013 Apr 9.

38.Sim X, Jensen RA, Ikram MK, Cotch MF, Li X, Macgregor S, Xie J, Smith AV, Boerwinkle E, Mitchell P, Klein R, Klein BE, Glazer NL, Lumley T, McKnight B, Psaty BM, de Jong PT, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, Aspelund T, Eiriksdottir G, Harris TB, Jonasson F, Launer LJ; Wellcome Trust Case Control Consortium 2, Attia J, BAIRD PN, Harrap S, Holliday EG, Inouye M, Rochtchina E, Scott RJ, Viswanathan A; Global BPGen Consortium, Li G, Smith NL, Wiggins KL, Kuo JZ, Taylor KD, Hewitt AW, Martin NG, Montgomery GW, Sun C, Young TL, Mackey DA, van Zuydam NR, Doney AS, Palmer CN, Morris AD, Rotter JI, Tai ES, Gudnason V, Vingerling JR, Siscovick DS, Wang JJ, Wong TY. (2013). Genetic Loci for Retinal Arteriolar Microcirculation. PLoS One. Jun 12;8(6):e65804. doi: 10.1371/journal.pone.0065804.

39.Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, BAIRD PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR. (2013). Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet. Nov;45(11):1375-9. doi: 10.1038/ng.2758. Epub 2013 Sep 15.

40.Wang J, Carvajal-Carmona LG, Chu JH, Zauber AG; APC Trial Collaborators, Kubo M, Matsuda K, Dunlop M, Houlston RS, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, BAIRD PN, Ratain MJ, Nakamura Y, Weiss ST, Tomlinson I, Bertagnolli MM. (2013). Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study. Clin Cancer Res. Dec 1;19(23):6430-7. Epub 2013 Oct 1.

41.Cheng CY*, Schache M*, Ikram MK*, Young TL*, Guggenheim JA*, Vitart V*, MacGregor S*, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M; Consortium for Refractive Error and Myopia, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr; Fuchs' Genetics Multi-Center Study Group, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ; Wellcome Trust Case Control Consortium 2, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Pärssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D*, Mackey DA*, Klaver CC*, Wong TY*, Saw SM*!, BAIRD PN*! (2013). Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Hum Genet. Aug 8;93(2):264-77.

Joint first/senior authors.  ! corresponding author

42.Guymer RH, BAIRD PN, Varsamidis M, Busija L, Dimitrov PN, Aung KZ, Makeyeva GA, Richardson AJ, Lim L, Robman LD. (2013). Proof of concept, randomized, placebo-controlled study of the effect of simvastatin on the course of age-related macular degeneration. (2013). PLoS One. 2013 Dec 31;8(12):e83759.

43.Sahebjada S, Schache M, Richardson AJ, Snibson G, Macgregor S, Daniell M, BAIRD PN. (2013). Evaluating the association between keratoconus and the corneal thickness genes in an independent Australian population. Invest Ophthalmol Vis Sci. 2013 Dec 17;54(13):8224-8.

44.Sahebjada S, Schache M, Richardson AJ, Snibson G, Daniell M, BAIRD PN. (2014). Association of the hepatocyte growth factor gene with keratoconus in an Australian population. PLoS One. Jan 8;9(1):e84067.

45.Sahebjada S, Fenwick EK, Xie J, Snibson GR, Daniell MD, BAIRD PN. Impact of keratoconus in the better eye and the worse eye on vision-related quality of life. (2014). Invest Ophthalmol Vis Sci. Jan 21;55(1):412-6.

46.BAIRD PN, Chakrabarti S. (2014). How genetic studies have advanced our understanding of age-related macular degeneration and their impact on patient care: a review. Clin Experiment Ophthalmol. Jan;42(1):53-64. Epub 2013 Oct 28.

47.Venturini C, Nag A, Hysi PG, Wang JJ, Wong TY, Healey PR, Mitchell P, Hammond CJ, Viswanathan AC; Wellcome Trust Case Control Consortium 2, BMES GWAS Group. (2014) Clarifying the role of ATOH7 in glaucoma endophenotypes. Br J Ophthalmol. Apr;98(4):562-6.

48.Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD, Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE, Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM, Iglesias AI, Verhoeven VJ, Hauser MA, Loon SC, Despriet DD, Nag A, Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J, Jonasson F, Cree AJ, van Koolwijk LM, Rivadeneira F, Souzeau E, Jonsson V, Menon G; Blue Mountains Eye Study—GWAS group, Weinreb RN, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2), Spector TD, Mirshahi A, Saw SM, Vingerling JR, Teo YY, Haines JL, Wolfs RC, Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T, Viswanathan AC, Klaver CC, Craig JE, Macgregor S, Mackey DA, Lotery AJ, Stefansson K, Bergen AA, Young TL, Wiggs JL, Pfeiffer N, Wong TY, Pasquale LR, Hewitt AW, van Duijn CM, Hammond CJ. (2014). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun; Sep 22;5:4883. doi: 10.1038/ncomms5883.

49.Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JN, Wojciechowski R, Vitart V, Nag A, Hewitt AW, Höhn R, Venturini C, Mirshahi A, Ramdas WD, Thorleifsson G, Vithana E, Khor CC, Stefansson AB, Liao J, Haines JL, Amin N, Wang YX, Wild PS, Ozel AB, Li JZ, Fleck BW, Zeller T, Staffieri SE, Teo YY, Cuellar-Partida G, Luo X, Allingham RR, Richards JE, Senft A, Karssen LC, Zheng Y, Bellenguez C, Xu L, Iglesias AI, Wilson JF, Kang JH, van Leeuwen EM, Jonsson V, Thorsteinsdottir U, Despriet DD, Ennis S, Moroi SE, Martin NG, Jansonius NM, Yazar S, Tai ES, Amouyel P, Kirwan J, van Koolwijk LM, Hauser MA, Jonasson F, Leo P, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de Jong PT, Simpson CL, Pennell CE, Oostra BA, Uitterlinden AG, Saw SM, Lotery AJ, Bailey-Wilson JE, Hofman A, Vingerling JR, Maubaret C, Pfeiffer N, Wolfs RC, Lemij HG, Young TL, Pasquale LR, Delcourt C, Spector TD, Klaver CC, Small KS, Burdon KP, Stefansson K, Wong TY; BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2, Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, Aung T. (2014) Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nat Genet. Oct;46(10):1126-30.

50.Finger RP, Wickremasinghe SS, BAIRD PN, Guymer RH. (2014). Predictors of anti-VEGF treatment response in neovascular age-related macular degeneration. Surv Ophthalmol. 59(1):1-18.

51.Balasubramanian SA, Krishna Kumar K, BAIRD PN. (2014). The role of proteases and inflammatory molecules in triggering neovascular age-related macular degeneration: basic science to clinical relevance. Transl Res. 164, 179-192

52.*Islam AFM, *Chong EW, Hodge AM, Guymer RH, Aung KZ, Makeyeva GA, BAIRD PN, Hopper JL, English DR, Giles GG, Robman LD. (2014). Dietary Patterns and their associations with Age-Related Macular Degeneration: The Melbourne Collaborative Cohort Study. Ophthalmology, 121, 1428-1434 e1422.

53.Cantsilieris S, Western PS, BAIRD PN, White SJ. (2014). Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication. BMC Genomics. 15, 329.

54.Sahebjada S, Xie J, Chan E, Snibson G, Daniel M, BAIRD PN. (2014). Assessment of anterior segment parameters of keratoconus eyes in an Australian population.  Optom Vis Sci. Jul;91(7):803-9.

55.Wickremasinghe SS, Sandhu SS, Amirul-Islam FM, Abedi F, Richardson AJ, BAIRD PN, Guymer RH. (2014). Polymorphisms in the ApoE gene and the location of retinal fluid in eyes with neovascular age-related macular degeneration. Retina. 34, 2367-2375.

56.Simpson, C. L., Wojciechowski, R., Oexle, K., Murgia, F., Portas, L., Li, X., Verhoeven, V. J., Vitart, V., Schache, M., Hosseini, S. M., Hysi, P. G., Raffel, L. J., Cotch, M. F., Chew, E., Klein, B. E., Klein, R., Wong, T. Y., van Duijn, C. M., Mitchell, P., Saw, S. M., Fossarello, M., Wang, J. J., Polasek, O., Campbell, H., Rudan, I., Oostra, B. A., Uitterlinden, A. G., Hofman, A., Rivadeneira, F., Amin, N., Karssen, L. C., Vingerling, J. R., Doring, A., Bettecken, T., Bencic, G., Gieger, C., Wichmann, H. E., Wilson, J. F., Venturini, C., Fleck, B., Cumberland, P. M., Rahi, J. S., Hammond, C. J., Hayward, C., Wright, A. F., Paterson, A. D., BAIRD PN, Klaver, C. C., Rotter, J. I., Pirastu, M., Meitinger, T., Bailey-Wilson, J. E., and Stambolian, D. (2014) Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci, PLoS One 9, e107110.

57.Li, Q., Wojciechowski, R., Simpson, C. L., Hysi, P. G., Verhoeven, V. J., Ikram, M. K., Hohn, R., Vitart, V., Hewitt, A. W., Oexle, K., Makela, K. M., MacGregor, S., Pirastu, M., Fan, Q., Cheng, C. Y., St Pourcain, B., McMahon, G., Kemp, J. P., Northstone, K., Rahi, J. S., Cumberland, P. M., Martin, N. G., Sanfilippo, P. G., Lu, Y., Wang, Y. X., Hayward, C., Polasek, O., Campbell, H., Bencic, G., Wright, A. F., Wedenoja, J., Zeller, T., Schillert, A., Mirshahi, A., Lackner, K., Yip, S. P., Yap, M. K., Ried, J. S., Gieger, C., Murgia, F., Wilson, J. F., Fleck, B., Yazar, S., Vingerling, J. R., Hofman, A., Uitterlinden, A., Rivadeneira, F., Amin, N., Karssen, L., Oostra, B. A., Zhou, X., Teo, Y. Y., Tai, E. S., Vithana, E., Barathi, V., Zheng, Y., Siantar, R. G., Neelam, K., Shin, Y., Lam, J., Yonova-Doing, E., Venturini, C., Hosseini, S. M., Wong, H. S., Lehtimaki, T., Kahonen, M., Raitakari, O., Timpson, N. J., Evans, D. M., Khor, C. C., Aung, T., Young, T. L., Mitchell, P., Klein, B., van Duijn, C. M., Meitinger, T., Jonas, J. B., BAIRD PN., Mackey, D. A., Wong, T. Y., Saw, S. M., Parssinen, O., Stambolian, D., Hammond, C. J., Klaver, C. C., Williams, C., Paterson, A. D., Bailey-Wilson, J. E., and Guggenheim, J. A. (2015). Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium, Hum Genet 134, 131-146. Epub 2014 Nov 4.

58.Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe SI, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Shahwan SA, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I; Blue Mountains Eye Study GWAS Team; Wellcome Trust Case Control Consortium 2, Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, Khor CC. (2015). A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nat Genet. 47(4):387-92.

59.Tkatchenko AV, Tkatchenko TV, Guggenheim JA, Verhoeven VJ, Hysi PG, Wojciechowski R, Singh PK, Kumar A, Thinakaran G; Consortium for Refractive Error and Myopia (CREAM), Williams C. (2015). APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans. PLoS Genet. Aug 27;11(8):e1005432.

60.Chong EW, Amirul Islam FM, Robman LD, Aung KZ, Richardson AJ, BAIRD PN, Guymer RH. (2015). Age related macular degeneration phenotypes associated with mutually exclusive homozygous risk variants in CFH and HTRA1 genes. Retina. May;35(5):989-98.

61.Robman LD, Islam, FMA, Chong EWT, Adams MKM, Simpson JA Aung KZ, Makeyeva GA, Hopper JL, English DR, Giles GG, BAIRD PN, Guymer RH. (2015). Age-Related Macular Degeneration in Ethnically Diverse Australia: Melbourne Collaborative Cohort Study. Ophthalmic Epidemiol. Apr;22(2):75-84.

62.Miyake M, Yamashiro K, Tabara Y, Suda K, Morooka S, Nakanishi H, Khor CC, Chen P, Qiao F, Nakata I, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, the Nagahama Study Group, Meguro A, Kusuhara S, Polasek O, Hayward C, Wright AF, Campbell H, Richardson AJ, Schache M, Takeuchi  M, Mackey DA, Hewitt A, Cuellar G, Shi Y, Huang L, Yang Z, Leung KH, Kao PYP, Yap MKH, Yip SP, Moriyama M, Ohno-Matsui  K, Mizuki N, MacGregor S, Vitart V, Aung T, Saw S-M, Tai E-S, Wong TY, Cheng C-Y, BAIRD PN, Yamada R, Matsuda F, and Yoshimura N. (2015). Identification of the WNT7B gene provides insights into the mechanism underlying myopia development. Nat Commun. Mar 31;6:6689.

63.Sahebjada S, Islam A, Wickremasinghe S, Daniel M, BAIRD PN. Assessment of macular parameter changes in patients with keratoconus using Optical Coherence Tomography. J Ophthalmol (2015). 245953.

64.Osthoff M, Dean MM, BAIRD PN, Richardson AJ, Daniell M, Guymer RH, Eisen DP. (2015). Association Study of Mannose-Binding Lectin Levels and Genetic Variants in Lectin Pathway Proteins with Susceptibility to Age-Related Macular Degeneration: A Case-Control Study. PLoS One. Jul 24;10(7):e0134107.

65.Riaz M, BAIRD PN. (2016). Genetics in Retinal Diseases, Retinal Pharmacotherapy. Eds. Quan Dong Nguyen, Eduardo Büchele Rodrigues, Michel Eid Farah and William F. Mieler. Dev Ophthalmol. 55:57-62

66.Fritsche LG, Igl W, Cooke Bailey JN, Grassmam F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D , Souied E, Scholl HPN, Bala E, Lee KE, Hunter D, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YTE, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GHS, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA , Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M , Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA , Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel J-A , Audo I, Benchaboune M, Cree A, Rennie C, Goverdhan S, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze J-F, Igo Jr RP, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Theodore Smith R, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley Jr MA, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NTM, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, the GIANT consortium, the CKDGen consortium, Klaver CCW, Hayward C, Gorin MB, Klein ML, BAIRD PN, den Hollander AI, Fauser S, Yates JRW, Allikmets R, Wang JJ, Schaumberg DA, Klein BEK, Hagstrom SA, Chowers I, Lotery A, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BHF, Abecasis GR, Heid IM. (2016). Insights on Rare Genetic Variation from a Large Study of Age-Related Macular Degeneration. Nat Genet. 48(2):134-43.

67.Finger RP, Chong E, McGuinness MB, Robman LD, Aung KZ, Giles G, BAIRD PN, Guymer RH. (2016). Reticular Pseudodrusen and Their Association with Age-Related Macular Degeneration: The Melbourne Collaborative Cohort Study. Ophthalmology. 123(3):599-608.

68.Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T; Consortium for Refractive Error and Myopia (CREAM), Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik JF, Kemp JP, Timpson NJ, Smith GD, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Chew E, Janmahasatian S, Martin NG, MacGregor S, Xu L, Schache M, Nangia V, Panda-Jonas S, Wright AF, Fondran JR, Lass JH, Feng S, Zhao JH, Khaw KT, Wareham NJ, Rantanen T, Kaprio J, Pang CP, Chen LJ, Tam PO, Jhanji V, Young AL, Döring A, Raffel LJ, Cotch MF, Li X, Yip SP, Yap MK, Biino G, Vaccargiu S, Fossarello M, Fleck B, Yazar S, Tideman JW, Tedja M, Deangelis MM, Morrison M, Farrer L, Zhou X, Chen W, Mizuki N, Meguro A, Mäkelä KM. (2016). Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nat Commun. 7:11008.

69.Wu Z, Ayton LN, Luu CD, Baird PN, Guymer RH. (2016). Reticular Pseudodrusen in Intermediate Age-Related Macular Degeneration: Prevalence, Detection, Clinical, Environmental, and Genetic Associations. Invest Ophthalmol Vis Sci. 57(3):1310-6.

70.Riaz M, BAIRD PN. Genetic Eye Research in Asia, Eds. Gyan Prakesh (NIH) and Takeshi Iwata (Tokyo). Springer Publishing, 2016 (in press)

Research Publications

1.Gu BJ*, BAIRD PN*, Vessey KA, Skarratt KK, Fletcher EL, Fuller SJ, Richardson AJ, Guymer RH, Wiley JS. (2013). A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age related macular degeneration. FASEB J. Apr;27(4):1479-87. Epub 2013 Jan 9.

*Joint first author

2.Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng C-Y, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GHS, McMahon G, Kemp JP, St. Pourcain B, Simpson CL, Mäkelä K-M, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DWH, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BEK, Klein R, Haller T, Metspalu A, Khor CC , Tai E-S, Aung T, Vithana E, Tay W-T, Barathi VA, the CREAM Consortium, Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, the DCCT/EDIC Research Group, Evans DM, Timpson NJ, Verkerk AJMH, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Wellcome Trust Case Control Consortium 2, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasathian S, Igo Jr  RP, Lass JH, Chew E, Iyengar SK, the Fuchs’ Genetics Multi-Center Study Group, Gorgels TGMF, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AAB, Teo Y-Y, Rahi JS, Vitart V, Williams C, BAIRD PN, Wong T-Y, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw S-M, Wilson JEB, Stambolian D, Klaver CC, Hammond CJ. (2013). Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet. Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10.

3.The AMD Gene Consortium. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GHS, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain M, Campochiaro PA, Chan C-C, Cheng C-Y, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley, YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness, J, Ferreyra HA, Friednman JS, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding S, Haritoglou C, Heckenlively JR, Holz, FG, Hughs G, Ioannidis JPA, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, Keilhauer CN, Khan JC, Kim IK, Kiyohara Y, Klein EK, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman M, Pappas C, Park K-H, Pauer GJT, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp, R, Rudolph G, Ryu E, Sahel J-A, Schaumberg DA, Scholl HPN, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefasson H, Sturgill –Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann E, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang L, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R*, BAIRD PN*, Gorin MB*, Wang JJ*, Klaver CCW*, Seddon JM*, Pericak-Vance MA*, Iyengar SK*, Yates JRW*, Swaroop A*, Weber BHF*, Kubo M*, DeAngelis MM*, Léveillard T*, Thorsteinsdottir U*, Haines JL*, Farrer LA*, Heid IM*, Abecasis GR*. (2013). Seven New Loci Associated with Age-Related Macular Degeneration. Nat Genet. Apr;45(4):433-9. doi: 10.1038/ng.2578. Epub 2013 Mar 3 (accepted 11th Feb 2013).

*Joint last author

4.Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, BAIRD PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR. (2013). Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet. Nov;45(11):1375-9. doi: 10.1038/ng.2758. Epub 2013 Sep 15.

5.Cheng CY*, Schache M*, Ikram MK*, Young TL*, Guggenheim JA*, Vitart V*, MacGregor S*, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M; Consortium for Refractive Error and Myopia, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr; Fuchs' Genetics Multi-Center Study Group, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ; Wellcome Trust Case Control Consortium 2, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Pärssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D*, Mackey DA*, Klaver CC*, Wong TY*, Saw SM*!, BAIRD PN*! (2013). Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Hum Genet. Aug 8;93(2):264-77.

Joint first/senior authors.  ! corresponding author

6.Miyake M, Yamashiro K, Tabara Y, Suda K, Morooka S, Nakanishi H, Khor CC, Chen P, Qiao F, Nakata I, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, the Nagahama Study Group, Meguro A, Kusuhara S, Polasek O, Hayward C, Wright AF, Campbell H, Richardson AJ, Schache M, Takeuchi  M, Mackey DA, Hewitt A, Cuellar G, Shi Y, Huang L, Yang Z, Leung KH, Kao PYP, Yap MKH, Yip SP, Moriyama M, Ohno-Matsui  K, Mizuki N, MacGregor S, Vitart V, Aung T, Saw S-M, Tai E-S, Wong TY, Cheng C-Y, BAIRD PN, Yamada R, Matsuda F, and Yoshimura N. (2015). Identification of the WNT7B gene provides insights into the mechanism underlying myopia development. Nat Commun. Mar 31;6:6689.

7.Fritsche LG, Igl W, Cooke Bailey JN, Grassmam F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D , Souied E, Scholl HPN, Bala E, Lee KE, Hunter D, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YTE, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GHS, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA , Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M , Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA , Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel J-A , Audo I, Benchaboune M, Cree A, Rennie C, Goverdhan S, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze J-F, Igo Jr RP, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Theodore Smith R, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley Jr MA, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NTM, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, the GIANT consortium, the CKDGen consortium, Klaver CCW, Hayward C, Gorin MB, Klein ML, BAIRD PN, den Hollander AI, Fauser S, Yates JRW, Allikmets R, Wang JJ, Schaumberg DA, Klein BEK, Hagstrom SA, Chowers I, Lotery A, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BHF, Abecasis GR, Heid IM. (2016). Insights on Rare Genetic Variation from a Large Study of Age-Related Macular Degeneration. Nat Genet. 48(2):134-43.

8.Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T; Consortium for Refractive Error and Myopia (CREAM), Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik JF, Kemp JP, Timpson NJ, Smith GD, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Chew E, Janmahasatian S, Martin NG, MacGregor S, Xu L, Schache M, Nangia V, Panda-Jonas S, Wright AF, Fondran JR, Lass JH, Feng S, Zhao JH, Khaw KT, Wareham NJ, Rantanen T, Kaprio J, Pang CP, Chen LJ, Tam PO, Jhanji V, Young AL, Döring A, Raffel LJ, Cotch MF, Li X, Yip SP, Yap MK, Biino G, Vaccargiu S, Fossarello M, Fleck B, Yazar S, Tideman JW, Tedja M, Deangelis MM, Morrison M, Farrer L, Zhou X, Chen W, Mizuki N, Meguro A, Mäkelä KM. (2016). Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nat Commun. 7:11008.

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Faculty Research Themes

Neuroscience

School Research Themes

Neuroscience & Psychiatry



Key Contact

For further information about this research, please contact Professor Paul N Baird

Department / Centre

Surgery

Unit / Centre

Ocular Genetics


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