PLATFORM LEADERS

RESEARCH FOCUS

Many a time, we observe (and sometimes even comment) that a friend's child bears a striking resemblance to his/her parent. This is a profound testimony to the contribution of hereditable elements which shape our being. We now go one little step further and ask: 'Are some of the diseases afflicting us linked, in one way or another, to our genetic makeup?"

Although I qualified as a medical doctor, I realized that my calling was to pursue medical research in a full-time manner. My interest has always been to study the determinants which predispose otherwise healthy human beings to disease, and to see if the information so gathered can be used to help patients. Unfortunately, we do not fully understand how disease processes work. I enjoy conducting genetic studies because more often than not, the findings illuminate medical science, and have an opportunity to change clinical practise for the better in the long term.

My laboratory practise spans many areas of human genetics studied across diverse human traits and disease conditions, with the long term goal of translating genetic findings into predictive medicine to improve healthcare in Singapore.

I also serve as Acting Platform Leader for the Institute's Combined Genotyping and Sequencing Service.

Research program team-mates

Zheng Li, M.D., PhD (Staff Scientist)
Soo Hui Meng (Laboratory Manager)
Sim Kar Seng (Bioinformatics Manager)
Xie Zhicheng, PhD (Senior Research Officer)
Peh Su Qin (Senior Research Officer)

GIS combined Genotyping and Sequencing Platform

Meah Wee Yang (Laboratory Manager)
Mok Shi Qi (Research Officer; Illumina GWAS lead)
Chen Xiao Yin (Senior Research Officer; Illumina GWAS co-lead, sequencing library preparations)
Heng Khai Koon (Senior Research Officer; Affymetrix GWAS lead)
Zhang Zhenshui (Senior Research Officer; Sample extractions and QC)

Low Hwee Meng (Assistant Laboratory Manager; Oxford Nanopore and long read platforms)
Jo Ong Chin Thing (Senior Research Officer; Administrative Lead)
Lee Yen Ling (Senior Research Officer; Illumina platform and QC lead)
Desmond Ng Poh Yong (Senior Research Officer; Sequencing Library preparation)
Dawn Choi (Senior Research Officer; Sequencing Library preparation)

Dennis Tan Eng Kiat (Research Officer)
Current position: PhD student, University of Western Australia

Wong Chang Hua (Senior Research Officer; Sequenom lead)
Goh Yufen (Research Officer)
Masahiro Miyake, M.D. (Visiting Scholar from Kyoto University)

Toh Kai Yee (Research Officer)
Current Position: Executive, School of Public Health, National University of Singapore

Seng Zi Jing (Laboratory Officer)
Current Position: Research Officer and Graduate Student, Nanyang Technological University

Zhang Jingyao (Research Fellow)
Current Position: Research Fellow, GIS-ATRECA laboratory

EDUCATION

2006 Doctor of Philosophy (D.Phil.), University of Oxford
2009 Bachelor of Medicine and Bachelor of Surgery (M.B.,B.S.), National University of Singapore

PROFESSIONAL APPOINTMENTS

2008 - 2009 Research Fellow, Host-Susceptibility to Infection group, Singapore Institute for Clinical Sciences
2009 - 2011 Research Fellow, Infectious Diseaes (Hibberd Group), Genome Institute of Singapore
2011-2012 Research Scientist, Infectious Diseases (Hibberd Group), Genome Institute of Singapore
2011- Adjunct Clinician Scientist, Singapore Eye Research Institute
2012 - 2015 Senior Research Scientist (Principal Investigator)
2015 - Group Leader (Senior Principal Investigator)

HONORS AND AWARDS

2007 Gold medal and book prize in Ophthalmology
2013 Singapore National Academy of Science Young Scientist Award for Biological and Biomedical Sciences
2015 EMBO Young Investigator Programme Award
2016 STAR Employee Award (Agency for Science, Technology and Research)
2018 National Research Foundation Investigator
2018 American Association for Cancer Research Team Science Award

COMMITTEE AND ADVISORY BOARD

2007 - present Associate member, Clinician Scientist Unit, NUS Leadership in Academic Medicine, National University of Singapore.

EXTERNAL GRANT

PATENTS

COMPLETE PUBLICATION LIST

Hauser MA, Allingham RR, Aung T, Van Der Heide CJ, Taylor KD, Rotter JI, Wang SJ, Bonnemaijer PWM, Williams SE, Abdullahi SM, Abu-Amero KK, Anderson MG, Akafo S, Alhassan MB, Asimadu I, Ayyagari R, Bakayoko S, Nyamsi PB, Bowden DW, Bromley WC, Budenz DL, Carmich ael TR, Challa P, Chen YI, Chuka-Okosa CM, Cooke Bailey JN, Costa VP, Cruz DA, DuBiner H, Ervin JF, Feldman RM, Flamme-Wiese M, Gaasterland DE, Garnai SJ, Girkin CA, Guirou N, Guo X, Haines JL, Hammond CJ, Herndon L, Hoffmann TJ, Hulette CM, Hydara A, Igo RP, Jorgenson E, Kabwe J, Kilangalanga NJ, Kizor-Akaraiwe N, Kuchtey RW, Lamari H, Li Z, Liebmann JM, Liu Y, Loos RJF, Melo MB, Moroi SE, Msosa JM, Mullins RF, Nadkarni G, Napo A, Ng MCY, Nunes HF, Obeng-Nyarkoh E, Okeke A, Okeke S, Olaniyi O, Olawoye O, Oliveira MB, Pasquale LR, Perez-Grossmann RA, Pericak-Vance MA, Qin X, Ramsay M, Resnikoff S, Richards JE, Schimiti RB, Sim KS, Sponsel WE, Svidnicki PV, Thiadens AAHJ, Uche NJ, van Duijn CM, de Vasconcellos JPC, Wiggs JL, Zangwill LM, Risch N, Milea D, Ashaye A, Klaver CCW, Weinreb RN, Ashley Koch AE, Fingert JH, Khor CC "Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry." JAMA 2019 Nov 05 ; 322(17) : 1682-1691 Abstract

Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D, Salvi E, Manunta P, Mori Y, Miyata K, Higashide T, Chihara E, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Miyake M, Gotoh N, Matsuda F, Yoshimura N, Ikeda Y, Ueno M, Sotozono C, Jeoung JW, Sagong M, Park KH, Ahn J, Cruz-Aguilar M, Ezzouhairi SM, Rafei A, Chong YF, Ng XY, Goh SR, Chen Y, Yong VHK, Khan MI, Olawoye OO, Ashaye AO, Ugbede I, Onakoya A, Kizor-Akaraiwe N, Teekhasaenee C, Suwan Y, Supakontanasan W, Okeke S, Uche NJ, Asimadu I, Ayub H, Akhtar F, Kosior-Jarecka E, Lukasik U, Lischinsky I, Castro V, Grossmann RP, Megevand GS, Roy S, Dervan E, Silke E, Rao A, Sahay P, Fornero P, Cuello O, Sivori D, Zompa T, Mills RA, Souzeau E, Mitchell P, Wang JJ, Hewitt AW, Coote M, Crowston JG, Astakhov SY, Akopov EL, Emelyanov A, Vysochinskaya V, Kazakbaeva G, Fayzrakhmanov R, Al-Obeidan SA, Owaidhah O, Aljasim LA, Chowbay B, Foo JN, Soh RQ, Sim KS, Xie Z, Cheong AWO, Mok SQ, Soo HM, Chen XY, Peh SQ, Heng KK, Husain R, Ho SL, Hillmer AM, Cheng CY, Escudero-Domínguez FA, González-Sarmiento R, Martinon-Torres F, Salas A, Pathanapitoon K, Hansapinyo L, Wanichwecharugruang B, Kitnarong N, Sakuntabhai A, Nguyn HX, Nguyn GTT, Nguyn TV, Zenz W, Binder A, Klobassa DS, Hibberd ML, Davila S, Herms S, Nöthen MM, Moebus S, Rautenbach RM, Ziskind A, Carmichael TR, Ramsay M, Álvarez L, García M, González-Iglesias H, Rodríguez-Calvo PP, Cueto LF, Oguz Ç, Tamcelik N, Atalay E, Batu B, Aktas D, Kasım B, Wilson MR, Coleman AL, Liu Y, Challa P, Herndon L, Kuchtey RW, Kuchtey J, Curtin K, Chaya CJ, Crandall A, Zangwill LM, Wong TY, Nakano M, Kinoshita S, den Hollander AI, Vesti E, Fingert JH, Lee RK, Sit AJ, Shingleton BJ, Wang N, Cusi D, Qamar R, Kraft P, Pericak-Vance MA, Raychaudhuri S, Heegaard S, Kivelä T, Reis A, Kruse FE, Weinreb RN, Pasquale LR, Haines JL, Thorsteinsdottir U, Jonasson F, Allingham RR, Milea D, Ritch R, Kubota T, Tashiro K, Vithana EN, Micheal S, Topouzis F, Craig JE, Dubina M, Sundaresan P, Stefansson K, Wiggs JL, Pasutto F, Khor CC "Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci." Nature Genetics 2017 Jul ; 49(7) : 993-1004 Abstract

Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, Duvesh R, Chen LJ, Li Z, Nongpiur ME, Perera SA, Qiao C, Wong HT, Sakai H, Barbosa de Melo M, Lee MC, Chan AS, Azhany Y, Dao TL, Ikeda Y, Perez-Grossmann RA, Zarnowski T, Day AC, Jonas JB, Tam PO, Tran TA, Ayub H, Akhtar F, Micheal S, Chew PT, Aljasim LA, Dada T, Luu TT, Awadalla MS, Kitnarong N, Wanichwecharungruang B, Aung YY, Mohamed-Noor J, Vijayan S, Sarangapani S, Husain R, Jap A, Baskaran M, Goh D, Su DH, Wang H, Yong VK, Yip LW, Trinh TB, Makornwattana M, Nguyen TT, Leuenberger EU, Park KH, Wiyogo WA, Kumar RS, Tello C, Kurimoto Y, Thapa SS, Pathanapitoon K, Salmon JF, Sohn YH, Fea A, Ozaki M, Lai JS, Tantisevi V, Khaing CC, Mizoguchi T, Nakano S, Kim CY, Tang G, Fan S, Wu R, Meng H, Nguyen TT, Tran TD, Ueno M, Martinez JM, Ramli N, Aung YM, Reyes RD, Vernon SA, Fang SK, Xie Z, Chen XY, Foo JN, Sim KS, Wong TT, Quek DT, Venkatesh R, Kavitha S, Krishnadas SR, Soumittra N, Shantha B, Lim BA, Ogle J, de Vasconcellos JP, Costa VP, Abe RY, de Souza BB, Sng CC, Aquino MC, Kosior-Jarecka E, Fong GB, Tamanaja VC, Fujita R, Jiang Y, Waseem N, Low S, Pham HN, Al-Shahwan S, Craven ER, Khan MI, Dada R, Mohanty K, Faiq MA, Hewitt AW, Burdon KP, Gan EH, Pru tthipongsit A, Patthanathamrongkasem T, Catacutan MA, Felarca IR, Liao CS, Rusmayani E, Istiantoro VW, Consolandi G, Pignata G, Lavia C, Rojanapongpun P, Mangkornkanokpong L, Chansangpetch S, Chan JC, Choy BN, Shum JW, Than HM, Oo KT, Han AT, Yong VH, Ng XY, Goh SR, Chong YF, Hibberd ML, Seielstad M, Png E, Dunstan SJ, Chau NV, Bei J, Zeng YX, Karkey A, Basnyat B, Pasutto F, Paoli D, Frezzotti P, Wang JJ, Mitchell P, Fingert JH, Allingham RR, Hauser MA, Lim ST, Chew SH, Ebstein RP, Sakuntabhai A, Park KH, Ahn J, Boland G, Snippe H, Stead R, Quino R, Zaw SN, Lukasik U, Shetty R, Zahari M, Bae HW, Oo NL, Kubota T, Manassakorn A, Ho WL, Dallorto L, Hwang YH, Kiire CA, Kuroda M, Djamal ZE, Peregrino JI, Ghosh A, Jeoung JW, Hoan TS, Srisamran N, Sandragasu T, Set SH, Doan VH, Bhattacharya SS, Ho CL, Tan DT, Sihota R, Loon SC, Mori K, Kinoshita S, Hollander AI, Qamar R, Wang YX, Teo YY, Tai ES, Hartleben-Matkin C, Lozano-Giral D, Saw SM, Cheng CY, Zenteno JC, Pang CP, Bui HT, Hee O, Craig JE, Edward DP, Yonahara M, Neto JM, Guevara-Fujita ML, Xu L, Ritch R, Liza-Sharmini AT, Wong TY, Al-Obeidan S, Do NH, Sundaresan P, Tham CC, Foster PJ, Vijaya L, Tashiro K, Vithana EN, Wang N, Aung T "Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma." Nature Genetics 2016 May ; 48(5) : 556-62 Epub 2016 Apr 4 Abstract

Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP, Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, Budenz DL, Buil A, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I, Fingert JH, Foster PJ, Fuchs C, Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR, Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritch R, Ritchie M, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, Study EN, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR, Haines JL, Wiggs JL "Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma." Nat Genet 2016 Feb ; 48(2) : 189-94 Epub 2016 Jan 11 Abstract

Sutiman N, Lim JS, Muerdter TE, Singh O, Cheung YB, Ng RC, Yap YS, Wong NS, Ang PC, Dent R, Schroth W, Schwab M, Khor CC, Chowbay B "Pharmacogenetics of UGT1A4, UGT2B7 and UGT2B15 and Their Influence on Tamoxifen Disposition in Asian Breast Cancer Patients." Clin Pharmacokinet 2016 Apr 20 Abstract

Huang L, Zhang H, Cheng CY, Wen F, Tam PO, Zhao P, Chen H, Li Z, Chen L, Tai Z, Yamashiro K, Deng S, Zhu X, Chen W, Cai L, Lu F, Li Y, Cheung CG, Shi Y, Miyake M, Lin Y, Gong B, Liu X, Sim KS, Yang J, Mori K, Zhang X, Cackett PD, Tsujikawa M, Nishida K, Hao F, Ma S, Lin H, Cheng J, Fei P, Lai TY, Tang S, Laude A, Inoue S, Yeo IY, Sakurada Y, Zhou Y, Iijima H, Honda S, Lei C, Zhang L, Zheng H, Jiang D, Zhu X, Wong TY, Khor CC, Pang CP, Yoshimura N, Yang Z "A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy." Nat Genet 2016 Apr 18 Abstract

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, 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 "Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error." Nat Commun 2016 ; 7 : 11008 Abstract

Yamamoto Y, Wang X, Bertrand D, Kern F, Zhang T, Duleba M, Srivastava S, Khor CC, Hu Y, Wilson LH, Blaszyk H, Rolshud D, Teh M, Liu J, Howitt BE, Vincent M, Crum CP, Nagarajan N, Ho KY, McKeon F, Xian W "Mutational spectrum of Barrett\'s stem cells suggests paths to initiation of a precancerous lesion." Nat Commun 2016 ; 7 : 10380 Abstract

Li Z, Xia Y, Feng LN, Chen JR, Li HM, Cui J, Cai QQ, Sim KS, Nairismägi ML, Laurensia Y, Meah WY, Liu WS, Guo YM, Chen LZ, Feng QS, Pang CP, Chen LJ, Chew SH, Ebstein RP, Foo JN, Liu J, Ha J, Khoo LP, Chin ST, Zeng YX, Aung T, Chowbay B, Diong CP, Zhang F, Liu YH, Tang T, Tao M, Quek R, Mohamad F, Tan SY, Teh BT, Ng SB, Chng WJ, Ong CK, Okada Y, Raychaudhuri S, Lim ST, Tan W#, Peng RJ#, Khor CC#, Bei JX# "Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study." Lancet Oncology 2016 Sep ; 17(9) : 1240-7 # Joint last authors Abstract

Cheng CY, Yamashiro K, Jia Chen L, Ahn J, Huang L, Huang L, Cheung CM, Miyake M, Cackett PD, Yeo IY, Laude A, Mathur R, Pang J, Sim KS, Koh AH, Chen P, Lee SY, Wong D, Chan CM, Loh BK, Sun Y, Davila S, Nakata I, Nakanishi H, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, Matsuda F, Mori K, Yoneya S, Sakurada Y, Iijima H, Iida T, Honda S, Lai TY, Tam PO, Chen H, Tang S, Ding X, Wen F, Lu F, Zhang X, Shi Y, Zhao P, Zhao B, Sang J, Gong B, Dorajoo R, Yuan JM, Koh WP, van Dam RM, Friedlander Y, Lin Y, Hibberd ML, Foo JN, Wang N, Wong CH, Tan GS, Park SJ, Bhargava M, Gopal L, Naing T, Liao J, Guan Ong P, Mitchell P, Zhou P, Xie X, Liang J, Mei J, Jin X, Saw SM, Ozaki M, Mizoguchi T, Kurimoto Y, Woo SJ, Chung H, Yu HG, Shin JY, Park DH, Kim IT, Chang W, Sagong M, Lee SJ, Kim HW, Lee JE, Li Y, Liu J, Teo YY, Heng CK, Lim TH, Yang SK, Song K, Vithana EN, Aung T, Bei JX, Zeng YX, Tai ES, Li XX, Yang Z, Park KH, Pang CP, Yoshimura N, Yin Wong T, Khor CC "New loci and coding variants confer risk for age-related macular degeneration in East Asians." Nature Communications 2015 ; 6 : 6063 Abstract

Li M, Foo JN, Wang JQ, Low HQ, Tang XQ, Toh KY, Yin PR, Khor CC, Goh YF, Irwan ID, Xu RC, Andiappan AK, Bei JX, Rotzschke O, Chen MH, Cheng CY, Sun LD, Jiang GR, Wong TY, Lin HL, Aung T, Liao YH, Saw SM, Ye K, Ebstein RP, Chen QK, Shi W, Chew SH, Chen J, Zhang FR, Li SP, Xu G, Shyong Tai E, Wang L, Chen N, Zhang XJ, Zeng YX, Zhang H, Liu ZH, Yu XQ, Liu JJ "Identification of new susceptibility loci for IgA nephropathy in Han Chinese." Nat Commun 2015 ; 6 : 7270 Abstract

Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert MF, Raghavan S, Lipovich L, Hidalgo B, Fox K, Huffman JE, An P, Lu Y, Rasmussen-Torvik LJ, Grarup N, Ehm MG, Li L, Baldridge AS, Stančáková A, Abrol R, Besse C, Boland A, Bork-Jensen J, Fornage M, Freitag DF, Garcia ME, Guo X, Hara K, Isaacs A, Jakobsdottir J, Lange LA, Layton JC, Li M, Hua Zhao J, Meidtner K, Morrison AC, Nalls MA, Peters MJ, Sabater-Lleal M, Schurmann C, Silveira A, Smith AV, Southam L, Stoiber MH, Strawbridge RJ, Taylor KD, Varga TV, Allin KH, Amin N, Aponte JL, Au ng T, Barbieri C, Bihlmeyer NA, Boehnke M, Bombieri C, Bowden DW, Burns SM, Chen Y, Chen YD, Cheng CY, Correa A, Czajkowski J, Dehghan A, Ehret GB, Eiriksdottir G, Escher SA, Farmaki AE, Frånberg M, Gambaro G, Giulianini F, Goddard WA, Goel A, Gottesman O, Grove ML, Gustafsson S, Hai Y, Hallmans G, Heo J, Hoffmann P, Ikram MK, Jensen RA, Jørgensen ME, Jørgensen T, Karaleftheri M, Khor CC, Kirkpatrick A, Kraja AT, Kuusisto J, Lange EM, Lee IT, Lee WJ, Leong A, Liao J, Liu C, Liu Y, Lindgren CM, Linneberg A, Malerba G, Mamakou V, Marouli E, Maruthur NM, Matchan A, McKean-Cowdin R, McLeod O, Metcalf GA, Mohlke KL, Muzny DM, Ntalla I, Palmer ND, Pasko D, Peter A, Rayner NW, Renström F, Rice K, Sala CF, Sennblad B, Serafetinidis I, Smith JA, Soranzo N, Speliotes EK, Stahl EA, Stirrups K, Tentolouris N, Thanopoulou A, Torres M, Traglia M, Tsafantakis E, Javad S, Yanek LR, Zengini E, Becker DM, Bis JC, Brown JB, Adrienne Cupples L, Hansen T, Ingelsson E, Karter AJ, Lorenzo C, Mathias RA, Norris JM, Peloso GM, Sheu WH, Toniolo D, Vaidya D, Varma R, Wagenknecht LE, Boeing H, Bottinger EP, Dedoussis G, Deloukas P, Ferrannini E, Franco OH, Franks PW, Gibbs RA, Gudnason V, Hamsten A, Harris TB, Hattersley AT, Hayward C, Hofman A, Jansson JH, Langenberg C, Launer LJ, Levy D, Oostra BA, O\'Donnell CJ, O\'Rahilly S, Padmanabhan S, Pankow JS, Polasek O, Province MA, Rich SS, Ridker PM, Rudan I, Schulze MB, Smith BH, Uitterlinden AG, Walker M, Watkins H, Wong TY, Zeggini E, Laakso M, Borecki IB, Chasman DI, Pedersen O, Psaty BM, Shyong Tai E, van Duijn CM, Wareham NJ, Waterworth DM, Boerwinkle E, Linda Kao WH, Florez JC, Loos RJ, Wilson JG, Frayling TM, Siscovick DS, Dupuis J, Rotter JI, Meigs JB, Scott RA, Goodarzi MO "Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility." Nat Commun 2015 ; 6 : 5897 Abstract

Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Höhn R, Khor CC, Cooke Bailey JN, Luo X, Ramdas WD, Vithana E, Koh V, Yazar S, Xu L, Forward H, Kearns LS, Amin N, Iglesias AI, Sim KS, van Leeuwen EM, Demirkan A, van der Lee S, Loon SC, Rivadeneira F, Nag A, Sanfilippo PG, Schillert A, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Zhou T, Burdon KP, Spector TD, Lackner KJ, Saw SM, Vingerling JR, Teo YY, Pasquale LR, Wolfs RC, Lemij HG, Tai ES, Jonas JB, Cheng CY, Aung T, Jansonius NM, Klaver CC, Craig JE, Young TL, Hain es JL, MacGregor S, Mackey DA, Pfeiffer N, Wong TY, Wiggs JL, Hewitt AW, van Duijn CM, Hammond CJ "Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology." Genet Epidemiol 2015 Jan 28 Abstract

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, 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 "A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome." Nature Genetics 2015 Feb 23 Abstract

Han Y, Dorajoo R, Ke T, Ayala B, Chang X, Khor CC, van Dam RM, Yuan JM, Koh WP, Liu J, Goh DY, Friedlander Y, Heng CK "Interaction effects between Paraoxonase 1 variants and cigarette smoking on risk of coronary heart disease in a Singaporean Chinese population." Atherosclerosis 2015 Feb 25 ; 240(1) : 40-45 Abstract

Tham YC, Liao J, Vithana EN, Khor CC, Teo YY, Tai ES, Wong TY, Aung T, Cheng CY "Aggregate Effects of Intraocular Pressure and Cup-to-Disc Ratio Genetic Variants on Glaucoma in a Multiethnic Asian Population." Ophthalmology 2015 Mar 4 Abstract

Del Rosario RC, Poschmann J, Rouam SL, Png E, Khor CC, Hibberd ML, Prabhakar S "Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms." Nat Methods 2015 Mar 23 Abstract

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, Meguro A, Kusuhara S, Polasek O, Hayward C, Wright AF, Campbell H, Richardson AJ, Schache M, Takeuchi M, Mackey DA, Hewitt AW, Cuellar G, Shi Y, Huang L, Yang Z, Leung KH, Kao PY, Yap MK, Yip SP, Moriyama M, Ohno-Matsui K, Mizuki N, MacGregor S, Vitart V, Aung T, Saw SM, Tai ES, Wong TY, Cheng CY, Baird PN, Yamada R, Matsuda F, Yoshimura N "Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia." Nat Commun 2015 ; 6 : 6689 Abstract

Huang LZ, Li YJ, Xie XF, Zhang JJ, Ch eng CY, Yamashiro K, Chen LJ, Ma XY, Cheung CM, Wang YS, Zhang CF, Bai YJ, Hou J, Chen XL, Qi Y, Li SS, Sun YY, Mei JP, Cheng Y, Yu WZ, Hu XB, Zhuang FF, Fan L, Lu Y, Sun XH, Zhu XJ, Shen DF, Chan CC, Zhao MW, Yoshimura N, Pang CP, Wong TY, Khor CC, Zhang K, Zhou P, Li XX "Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations." Nat Commun 2015 ; 6 : 6687 Abstract

Foo JN, Chung SJ, Tan LC, Liany H, Ryu HS, Hong M, Koh TH, Irwan ID, Au WL, Prakash KM, Aung T, Cheng CY, Chong SA, Khor CC, Lee J, Tai ES, Vithana EN, Wong TY, Song K, Liu J, Tan EK "Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson\'s disease." Mov Disord 2015 Dec 21 Abstract

Saw WY, Liu X, Khor CC, Takeuchi F, Katsuya T, Kimura R, Nabika T, Ohkubo T, Tabara Y, Yamamoto K, Yokota M, Teo YY, Kato N "Mapping the genetic diversity of HLA haplotypes in the Japanese populations." Sci Rep 2015 ; 5 : 17855 Abstract

Dorajoo R, Sun Y, Han Y, Ke T, Burger A, Chang X, Low HQ, Guan W, Lemaitre RN, Khor CC, Yuan JM, Koh WP, Ong CN, Tai ES, Liu J, van Dam RM, Heng CK, Friedlander Y "A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population." Genes Nutr 2015 Nov ; 10(6) : 53 Epub 2015 Nov 19 Abstract

Kato N, Loh M, Takeuchi F, Verweij N, Wang X, Zhang W, Kelly TN, Saleheen D, Lehne B, Mateo Leach I, Drong AW, Abbott J, Wahl S, Tan ST, Scott WR, Campanella G, Chadeau-Hyam M, Afzal U, Ahluwalia TS, Bonder MJ, Chen P, Dehghan A, Edwards TL, Esko T, Go MJ, Harris SE, Hartiala J, Kasela S, Kasturiratne A, Khor CC, Kleber ME, Li H, Mok ZY, Nakatochi M, Sapari NS, Saxena R, Stewart AF, Stolk L, Tabara Y, Teh AL, Wu Y, Wu JY, Zhang Y, Aits I, Da Silva Couto Alves A, Das S, Dorajoo R, Hopewell JC, Kim YK, Koivula RW, Luan J, Lyytikäinen LP, Nguyen QN, Pereira MA, Postmus I, Raitakari OT, Bryan MS, Scott RA, Sorice R, Tragante V, Traglia M, White J, Yamamoto K, Zhang Y, Adair LS, Ahmed A, Akiyama K, Asif R, Aung T, Barroso I, Bjonnes A, Braun TR, Cai H, Chang LC, Chen CH, Cheng CY, Chong YS, Collins R, Courtney R, Davies G, Delgado G, Do LD, Doevendans PA, Gansevoort RT, Gao YT, Grammer TB, Grarup N, Grewal J, Gu D, Wander GS, Hartikainen AL, Hazen SL, He J, Heng CK, Hixson JE, Hofman A, Hsu C, Huang W, Husemoen LL, Hwang JY, Ichihara S, Igase M, Isono M, Justesen JM, Katsuya T, Kibriya MG, Kim YJ, Kishimoto M, Koh WP, Kohara K, Kumari M, Kwek K, Lee NR, Lee J, Liao J, Lieb W, Liewald DC, Matsubara T, Matsushita Y, Meitinger T, Mihailov E, Milani L, Mills R, Mononen N, Müller-Nurasyid M, Nabika T, Nakashima E, Ng HK, Nikus K, Nutile T, Ohkubo T, Ohnaka K, Parish S, Paternoster L, Peng H, Peters A, Pham ST, Pinidiyapathirage MJ, Rahman M, Rakugi H, Rolandsson O, Rozario MA, Ruggiero D, Sala CF, Sarju R, Shimokawa K, Snieder H, Sparsø T, Spiering W, Starr JM, Stott DJ, Stram DO, Sugiyama T, Szymczak S, Tang WH, Tong L, Trompet S, Turjanmaa V, Ueshima H, Uitterlinden AG, Umemura S, Vaarasmaki M, van Dam RM, van Gilst WH, van Veldhuisen DJ, Viikari JS, Waldenberger M, Wang Y, Wang A, Wilson R, Wong TY, Xiang YB, Yamaguchi S, Ye X, Young RD, Young TL, Yuan JM, Zhou X, Asselbergs FW, Ciullo M, Clarke R, Deloukas P, Franke A, Franks PW, Franks S, Friedlander Y, Gross MD, Guo Z, Hansen T, Jarvelin MR, Jørgensen T, Jukema JW, Kähönen M, Kajio H, Kivimaki M, Lee JY, Lehtimäki T, Linneberg A, Miki T, Pedersen O, Samani NJ, Sørensen TI, Takayanagi R, Toniolo D, Ahsan H, Allayee H, Chen YT, Danesh J, Deary IJ, Franco OH, Franke L, Heijman BT, Holbrook JD, Isaacs A, Kim BJ, Lin X, Liu J, März W, Metspalu A, Mohlke KL, Sanghera DK, Shu XO, van Meurs JB, Vithana E, Wickremasinghe AR, Wijmenga C, Wolffenbuttel BH, Yokota M, Zheng W, Zhu D, Vineis P, Kyrtopoulos SA, Kleinjans JC, McCarthy MI, Soong R, Gieger C, Scott J, Teo YY, He J, Elliott P, Tai ES, van der Harst P, Kooner JS, Chambers JC "Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation." Nat Genet 2015 Nov ; 47(11) : 1282-93 Epub 2015 Sep 21 Abstract

Trikha S, Saffari E, Nongpiur M, Baskaran M, Ho H, Li Z, Tan PY, Allen J, Khor CC, Perera SA, Cheng CY, Aung T, Vithana E "A Genetic Variant in TGFBR3-CDC7 Is Associated with Visual Field Progression in Primary Open-Angle Glaucoma Patients from Singapore." Ophthalmology 2015 Dec ; 122(12) : 2416-22 Epub 2015 Sep 14 Abstract

Akagi-Kurashige Y, Yamashiro K, Gotoh N, Miyake M, Morooka S, Yoshikawa M, Nakata I, Kumagai K, Tsujikawa A, Yamada R, Matsuda F, Saito M, Iida T, Sugahara M, Kurimoto Y, Cheng CY, Khor CC, Wong TY, Yoshimura N "MMP20 and ARMS2/HTRA1 Are Associated with Neovascular Lesion Size in Age-Related Macular Degeneration." Ophthalmology 2015 Nov ; 122(11) : 2295-2302.e2 Epub 2015 Sep 1 Abstract

Hauser MA, Aboobakar IF, Liu Y, Miura S, Whigham BT, Challa P, Wheeler J, Williams A, Santiago-Turla C, Qin X, Rautenbach RM, Ziskind A, Ramsay M, Uebe S, Song L, Safi A, Vithana EN, Mizoguchi T, Nakano S, Kubota T, Hayashi K, Manabe S, Kazama S, Mori Y, Miyata K, Yoshimura N, Reis A, Crawford GE, Pasutto F, Carmichael TR, Williams SE, Ozaki M, Aung T, Khor CC, Stamer WD, Ashley-Koch AE, Allingham RR "Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus." Hum Mol Genet 2015 Nov 15 ; 24(22) : 6552-63 Epub 2015 Aug 25 Abstract

Dunstan SJ, Hue NT, Han B, Li Z, Tram TT, Sim KS, Parry CM, Chinh NT, Vinh H, Lan NP, Thieu NT, Vinh PV, Koirala S, Dongol S, Arjyal A, Karkey A, Shilpakar O, Dolecek C, Foo JN, Phuong LT, Lanh MN, Do T, Aung T, Hon DN, Teo YY, Hibberd ML, Anders KL, Okada Y, Raychaudhuri S, Simmons CP, Baker S, de Bakker PI, Basnyat B, Hien TT, Farrar JJ, Khor CC "Variation at HLA-DRB1 is associated with resistance to enteric fever." Nature Genetics 2014 Nov 10 Abstract

Chen Y, Lin Y, Vithana EN, Jia L, Zuo X, Wong TY, Chen LJ, Zhu X, Tam PO, Gong B, Qian S, Li Z, Liu X, Mani B, Luo Q, Guzman C, Leung CK, Li X, Cao W, Yang Q, Tham CC, Cheng Y, Zhang X, Wang N, Aung T, Khor CC#, Pang CP#, Sun X#, Yang Z# "Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma." Nature Genetics 2014 Aug 31 #shared last authors Abstract

Huang L, Li M, Ma X, Li Y, Zhang C, Sun Y, Bai Y, Wang B, Yu W, Zhao M, Khor CC, Li X "rs4711751 and rs1999930 Are Not Associated with Neovascular Age-Related Macular Degeneration or Polypoidal Choroidal Vasculopathy in the Chinese Population." Ophthalmic Res 2014 Sep 6 ; 52(2) : 102-106 Epub 2014 Sep 6 Abstract

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, Weinreb RN, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP, 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 "Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process." Nat Commun 2014 ; 5 : 4883 Abstract

Chin Y, Bhargava M, Khor CC, Cheung C, Wong T "Polypoidal choroidal vasculopathy and systemic lupus erythematosus." Lupus 2014 Jan 9 Abstract

Wei X, Nongpiur ME, De Leon JM, Baskaran M, Perera SA, How AC, Vithana EN, Khor CC, Aung T "Genotype-Phenotype Correlation Analysis for Three Primary Angle Closure Glaucoma Associated Genetic Polymorphisms." Invest Ophthalmol Vis Sci 2014 Jan 28 Abstract

Liao J, Li X, Wong TY, Wang JJ, Khor CC, Tai ES, Aung T, Teo YY, Cheng CY "Impact of measurement error on testing genetic association with quantitative traits." PLoS One 2014 ; 9(1) : e87044 Epub 2014 Jan 24 Abstract

Foo JN, Tan LC, Liany H, Koh TH, Irwan ID, Ng YY, Ahmad-Annuar A, Au WL, Aung T, Chan AY, Chong SA, Chung SJ, Jung Y, Khor CC, Kim J, Lee J, Lim SY, Mok V, Prakash KM, Song K, Tai ES, Vithana EN, Wong TY, Tan EK, Liu J "Analysis of nonsynonymous coding variants of Parkinson\'s disease-related pathogenic and susceptibility genes in East Asian populations." Hum Mol Genet 2014 Feb 23 Abstract

Zhou J, Tantoso E, Wong LP, Ong RT, Bei JX, Li Y, Liu J, Khor CC, Teo YY "iCall: A genotype-calling algorithm for rare, low-frequency and common variants on the Illumina exome array." Bioinformatics 2014 Feb 23 Abstract

Nongpiur ME, Khor CC, Jia H, Cornes BK, Chen LJ, Qiao C, Nair KS, Cheng CY, Xu L, George R, Tan D, Abu-Amero K, Perera SA, Ozaki M, Mizoguchi T, Kurimoto Y, Low S, Tajudin LS, Ho CL, Tham CC, Soto I, Chew PT, Wong HT, Shantha B, Kuroda M, Osman EA, Tang G, Fan S, Meng H, Wang H, Feng B, Yong VH, Ting SM, Li Y, Wang YX, Li Z, Lavanya R, Wu RY, Zheng YF, Su DH, Loon SC, Allingham RR, Hauser MA, Soumittra N, Ramprasad VL, Waseem N, Yaakub A, Chia KS, Kumaramanickavel G, Wong TT, How AC, Chau TN, Simmons CP, Bei JX, Zeng YX, Bhattacharya SS, Zhang M, Tan DT, Teo YY, Al-Obeidan SA, Hon do N, Tai ES, Saw SM, Foster PJ, Vijaya L, Jonas JB, Wong TY, John SW, Pang CP, Vithana EN, Wang N, Aung T "ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma." PLoS Genet 2014 Mar ; 10(3) : e1004089 Epub 2014 Mar 6 Abstract

Chen P, Takeuchi F, Lee JY, Li H, Wu JY, Liang J, Long J, Tabara Y, Goodarzi MO, Pereira MA, Kim YJ, Go MJ, Stram DO, Vithana E, Khor CC, Liu J, Liao J, Ye X, Wang Y, Lu L, Young TL, Lee J, Thai AC, Cheng CY, van Dam RM, Friedlander Y, Heng CK, Koh WP, Chen CH, Chang LC, Pan WH, Qi Q, Isono M, Zheng W, Cai Q, Gao Y, Yamamoto K, Ohnaka K, Takayanagi R, Kita Y, Ueshima H, Hsiung CA, Cui J, Huey-Herng Sheu W, Rotter JI, Chen YD, Hsu C, Okada Y, Kubo M, Takahashi A, Tanaka T, van Rooij FJ, Ganesh SK, Huang J, Huang T, Gross MD, Assimes TL, Miki T, Shu XO, Qi L, Chen YT, Lin X, Aung T, Wong TY, Teo YY, Kim BJ, Kato N, Tai ES "Multiple Non-glycemic Genomic Loci Are Newly Associated with Blood Level of Glycated Hemoglobin in East Asians." Diabetes 2014 Mar 19 Abstract

Huang L, Li Y, Guo S, Sun Y, Zhang C, Bai Y, Li S, Yang F, Zhao M, Wang B, Yu W, Zhao M, Khor CC, Li X "Different hereditary contribution of the CFH gene between Polypoidal Choroidal Vasculopathy and Age-Related Macular Degeneration in Chinese Han people." Invest Ophthalmol Vis Sci 2014 Apr 1 Abstract

Wong LP, Lai JK, Saw WY, Ong RT, Cheng AY, Pillai NE, Liu X, Xu W, Chen P, Foo JN, Tan LW, Koo SH, Soong R, Wenk MR, Lim WY, Khor CC, Little P, Chia KS, Teo YY "Insights into the genetic structure and diversity of 38 South asian indians from deep whole-genome sequencing." PLoS Genet 2014 May ; 10(5) : e1004377 Epub 2014 May 15 Abstract

Liao J, Su X, Chen P, Wang X, Xu L, Li X, Thean L, Tan C, Tan AG, Tay WT, Jun G, Zheng Y, Chew M, Wang YX, Tan QS, Barathi VA, Klein BE, Saw SM, Vithana EN, Tai ES, Iyengar SK, Mitchell P, Khor CC, Aung T, Wang JJ, Jonas JB, Teo YY, Wong TY, Cheng CY "Meta-Analysis of Genome-Wide Association Studies in Multiethnic Asians Identifies Two Loci for Age-Related Nuclear Cataract." Hum Mol Genet 2014 Jun 20 Abstract

Simino J, Shi G, Bis JC, Chasman DI, Ehret GB, Gu X, Guo X, Hwang SJ, Sijbrands E, Smith AV, Verwoert GC, Bragg-Gresham JL, Cadby G, Chen P, Cheng CY, Corre T, de Boer RA, Goel A, Johnson T, Khor CC, Lluís-Ganella C, Luan J, Lyytikäinen LP, Nolte IM, Sim X, Sõber S, van der Most PJ, Verweij N, Zhao JH, Amin N, Boerwinkle E, Bouchard C, Dehghan A, Eiriksdottir G, Elosua R, Franco OH, Gieger C, Harris TB, Hercberg S, Hofman A, James AL, Johnson AD, Kähönen M, Khaw KT, Kutalik Z, Larson MG, Launer LJ, Li G, Liu J, Liu K, Morrison AC, Navis G, Ong RT, Papanicolau GJ, Penninx BW, Psaty BM, Raffel LJ, Raitakari OT, Rice K, Rivadeneira F, Rose LM, Sanna S, Scott RA, Siscovick DS, Stolk RP, Uitterlinden AG, Vaidya D, van der Klauw MM, Vasan RS, Vithana EN, Völker U, Völzke H, Watkins H, Young TL, Aung T, Bochud M, Farrall M, Hartman CA, Laan M, Lakatta EG, Lehtimäki T, Loos RJ, Lucas G, Meneton P, Palmer LJ, Rettig R, Snieder H, Tai ES, Teo YY, van der Harst P, Wareham NJ, Wijmenga C, Wong TY, Fornage M, Gudnason V, Levy D, Palmas W, Ridker PM, Rotter JI, van Duijn CM, Witteman JC, Chakravarti A, Rao DC "Gene-Age Interactions in Blood Pressure Regulation: A Large-Scale Investigation with the CHARGE, Global BPgen, and ICBP Consortia." Am J Hum Genet 2014 Jun 18 Abstract

Chen P, Miyake M, Fan Q, Liao J, Yamashiro K, Ikram MK, Chew M, Vithana EN, Khor CC, Aung T, Tai ES, Wong TY, Teo YY, Yoshimura N, Saw SM, Cheng CY "CMPK1 and RBP3 are associated with corneal curvature in Asian populations." Hum Mol Genet 2014 Jun 24 Abstract

Li J, Lindström LS, Foo JN, Rafiq S, Schmidt MK, Pharoah PD, Michailidou K, Dennis J, Bolla MK, Wang Q, Van \'t Veer LJ, Cornelissen S, Rutgers E, Southey MC, Apicella C, Dite GS, Hopper JL, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Blomqvist C, Muranen TA, Aittomäki K, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Hartikainen JM, Kataja V, Chenevix-Trench G, Investigators k, Phillips KA, McLachlan SA, Lambrechts D, Thienpont B, Smeets A, Wildiers H, Chang-Claude J, Flesch-Janys D, Seibold P, Rudolph A, Giles GG, Baglietto L, Severi G, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GI, Borresen-Dale AL, Nord S, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar R, Seynaeve C, Hooning M, Kriege M, Hollestelle A, van den Ouweland A, Li Y, Hamann U, Torres D, Ulmer HU, Rüdiger T, Shen CY, Hsiung CN, Wu PE, Chen ST, Teo SH, Taib NA, Har Yip C, Fuang Ho G, Matsuo K, Ito H, Iwata H, Tajima K, Kang D, Choi JY, Park SK, Yoo KY, Maishman T, Tapper WJ, Dunning A, Shah M, Luben R, Brown J, Khor CC, Eccles DM, Nevanlinna H, Easton D, Humphreys K, Liu J, Hall P, Czene K "2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy." Nat Commun 2014 ; 5 : 4051 Abstract

Ali M, Liu X, Pillai EN, Chen P, Khor CC, Ong RT, Te o YY "Characterizing the genetic differences between two distinct migrant groups from Indo-European and Dravidian speaking populations in India." BMC Genet 2014 ; 15(1) : 86 Epub 2014 Jul 22 Abstract

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, Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, Aung T "Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma." Nat Genet 2014 Aug 31 Abstract

Hoang LT, Tolfvenstam T, Ooi EE, Khor CC, Naim AN, Ho EX, Ong SH, Wertheim HF, Fox A, Van Vinh Nguyen C, Nghiem NM, Ha TM, Thi Ngoc Tran A, Tambayah P, Lin R, Sangsajja C, Manosuthi W, Chuchottaworn C, Sansayunh P, Chotpitayasunondh T, Suntarattiwong P, Chokephaibulkit K, Puthavathana P, de Jong MD, Farrar J, van Doorn HR, Hibberd ML "Patient-based transcriptome-wide analysis identify interferon and ubiquination pathways as potential predictors of influenza a disease severity." PLoS One 2014 ; 9(11) : e111640 Epub 2014 Nov 3 Abstract

Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJ, Ikram MK, Höhn R, Vitart V, Hewitt AW, Oexle K, Mäkelä KM, MacGregor S, Pirastu M, Fan Q, Cheng CY, St Pourcain B, McMahon G, Kemp JP, Northstone K, Rahi JS, Cumberland PM, Martin NG, Sanfilippo PG, Lu Y, Wang YX, Hayward C, Polašek O, Campbell H, Bencic G, Wright AF, Wedenoja J, Zeller T, Schillert A, Mirshahi A, Lackner K, Yip SP, Yap MK, Ried JS, Gieger C, Murgia F, Wilson JF, Fleck B, Yazar S, Vingerling JR, Hofman A, Uitterlinden A, Rivadeneira F, Amin N, Karssen L, Oostra BA, Zhou X, Teo YY, Tai ES, Vithana E, Barathi V, Zheng Y, Siantar RG, Neelam K, Shin Y, Lam J, Yonova-Doing E, Venturini C, Hosseini SM, Wong HS, Lehtimäki T, Kähön en M, Raitakari O, Timpson NJ, Evans DM, Khor CC, Aung T, Young TL, Mitchell P, Klein B, van Duijn CM, Meitinger T, Jonas JB, Baird PN, Mackey DA, Wong TY, Saw SM, Pärssinen O, Stambolian D, Hammond CJ, Klaver CC, Williams C, Paterson AD, Bailey-Wilson JE, Guggenheim JA "Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium." Hum Genet 2014 Nov 4 Epub 2014 Nov 4 Abstract

He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H, Yang X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung T, Cai Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu D, Gu W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram MK, Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J, Lee NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y, Ong RT, Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T, Taylor PR, Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto K, Yang H, Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK, Zheng W, Hu FB, Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke KL, Ning G, Tsunoda T, Han BG, Shu XO, Tai ES, Wu T, Qi L "Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci." Hum Mol Genet 2014 Nov 26 Epub 2014 Nov 26 Abstract

Ng T, Chan M, Khor CC, Ho HK, Chan A "The genetic variants underlying breast cancer treatment-induced chronic and late toxicities: A systematic review." Cancer Treat Rev 2014 Dec ; 40(10) : 1199-1214 Epub 2014 Oct 14 Abstract

Siddiqi S, Foo JN, Vu A, Azim S, Silver DL, Mansoor A, Tay SK, Abbasi S, Hashmi AH, Janjua J, Khalid S, Tai ES, Yeo GW, Khor CC "A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias." PLoS One 2014 ; 9(12) : e113258 Epub 2014 Dec 4 Abstract

Hoang LT, Shimizu C, Ling L, Naim AN, Khor CC, Tremoulet AH, Wright V, Levin M, Hibberd ML, Burns JC "Global gene expression profiling identifies new therapeutic targets in acute Kawasaki disease." Genome Med 2014 ; 6(11) : 541 Epub 2014 Nov 20 Abstract

Wong LP, Ong RT, Poh WT, Liu X, Chen P, Li R, Lam KK, Pillai NE, Sim KS, Xu H, Sim NL, Teo SM, Foo JN, Tan LW, Lim Y, Koo SH, Gan LS, Cheng CY, Wee S, Yap EP, Ng PC, Lim WY, Soong R, Wenk MR, Aung T, Wong TY, Khor CC, Little P, Chia KS, Teo YY "Deep whole-genome sequencing of 100 southeast asian malays." Am J Hum Genet 2013 Jan 10 ; 92(1) : 52-66 Epub 2013 Jan 3 Abstract

Lu Y*, Vitart V*, Burdon KP*, Khor CC*, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackne r KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, Macleod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A, Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY * Joint first authors "Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus." Nature Genetics 2013 Jan 6 Epub 2013 Jan 6 Abstract

Guggenheim JA, Zhou X, Evans DM, Timpson NJ, McMahon G, Kemp JP, St Pourcain B, Northstone K, Ring SM, Fan Q, Wong TY, Cheng CY, Khor CC, Aung T, Saw SM, Williams C "Co-ordinated genetic scaling of the human eye: Shared determination of axial eye length and corneal curvature." Invest Ophthalmol Vis Sci 2013 Feb 5 Abstract

Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, Macgregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA, Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schac he M, Janmahasathian S, Jr RP, Lass JH, Chew E, Iyengar SK, Gorgels TG, Rudan I, Hayward C, Wright AF, Polase k 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 AA, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ "Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia." Nat Genet 2013 Feb 10 Epub 2013 Feb 10 Abstract

Wang X, Chua HX, Chen P, Ong RT, Sim X, Zhang W, Takeuchi F, Liu X, Khor CC, Tay WT, Cheng CY, Suo C, Liu J, Aung T, Chia KS, Kooner JS, Chambers JC, Wong TY, Tai ES, Kato N, Teo YY "Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies." Hum Mol Genet 2013 Feb 12 Abstract

Whitehorn J, Chau TN, Nguyet NM, Kien DT, Quyen NT, Trung DT, Pang J, Wills B, Van Vinh Chau N, Farrar J, Hibberd ML, Khor CC, Simmons CP "Genetic Variants of MICB and PLCE1 and Associations with Non-Severe Dengue." PLoS One 2013 ; 8(3) : e59067 Epub 2013 Mar 11 Abstract

Tan DE, Foo JN, Bei JX, Chang J, Peng R, Zheng X, Wei L, Huang Y, Lim WY, Li J, Cui Q, Chew SH, Ebstein RP, Kuperan P, Lim ST, Tao M, Tan SH, Wong A, Wong GC, Tan SY, Ng SB, Zeng YX, Khor CC, Lin D, Seow AL, Jia WH, Liu J "Genome-wide association study of B cell non-Hodgkin lymphoma identifies 3q27 as a susceptibility locus in the Chinese population." Nat Genet 2013 Jun 9 Epub 2013 Jun 9 Abstract

Foo JN, Smedby KE, Akers NK, Berglund M, Irwan ID, Jia X, Li Y, Conde L, Darabi H, Bracci PM, Melbye M, Adami HO, Glimelius B, Khor CC, Hjalgrim H, Padyukov L, Humphreys K, Enblad G, Skibola CF, de Bakker PI, Liu J "Coding Variants at Hexa-allelic Amino Acid 13 of HLA-DRB1 Explain Independent SNP Associations with Follicular Lymphoma Risk." Am J Hum Genet 2013 Jun 19 Abstract

Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR "TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities." Am J Hum Genet 2013 Jun 26 Abstract

Li J, Foo JN, Schoof N, Varghese JS, Fernandez-Navarro P, Gierach GL, Quek ST, Hartman M, Nord S, Kristensen VN, Pollán M, Figueroa JD, Thompson DJ, Li Y, Khor CC, Humphreys K, Liu J, Czene K, Hall P "Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size." J Med Genet 2013 Jul 3 Abstract

Nongpiur ME, Wei X, Xu L, Perera SA, Wu R, Zheng Y, Li Y, Wang YX, Cheng CY, Jonas JB, Wong TY, Vithana EN, Aung T, Khor CC "Lack of Association Between PACG Susceptibility Loci And the Ocular Biometric Parameters - Anterior Chamber Depth and Axial Length." Invest Ophthalmol Vis Sci 2013 Aug 6 Abstract

Khor CC, Miyake M, Chen LJ, Shi Y, Barathi VA, Qiao F, Nakata I, Yamashiro K, Zhou X, Tam PO, Cheng CY, Tai ES, Vithana EN, Aung T, Teo YY, Wong TY, Moriyama M, Ohno-Matsui K, Mochizuki M, Matsuda F, Yong RY, Yap EP, Yang Z, Pang CP, Saw SM, Yoshimura N "Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia." Hum Mol Genet 2013 Aug 9 Abstract

Zakharov S, Wong TY, Aung T, Vithana EN, Khor CC, Salim A, Thalamuthu A "Combined genotype and haplotype tests for region-based association studies." BMC Genomics 2013 Aug 21 ; 14(1) : 569 Epub 2013 Aug 21 Abstract

Fan Q, Wojciechowski R, Ikram MK, Cheng CY, Chen P, Zhou X, Pan CW, Khor CC, Tai ES, Aung T, Wong TY, Teo YY, Saw SM "Education Influences the Association between Genetic Variants and Refractive Error: A Meta-analysis of Five Singapore Studies." Hum Mol Genet 2013 Sep 6 Abstract

Chang CJ, Kuo HC, Chang JS, Lee JK, Tsai FJ, Khor CC, Chang LC, Chen SP, Ko TM, Liu YM, Chen YJ, Hong YM, Jang GY, Hibberd ML, Kuijpers T, Burgner D, Levin M, Burns JC, Davila S, Chen YT, Chen CH, Wu JY, Lee YC "Replication and Meta-Analysis of GWAS Identified Susceptibility Loci in Kawasaki Disease Confirm the Importance of B Lymphoid Tyrosine Kinase (BLK) in Disease Susceptibility." PLoS One 2013 ; 8(8) : e72037 Epub 2013 Aug 30 Abstract

Sun Y, Li S, Li H, Yang F, Bai Y, Zhao M, Guo J, Zhao M, Zhou P, Khor CC, Huang L, Li X "TNFRSF10A-LOC389641 rs13278062 but not REST-C4orf14 - POLR2B-IGFBP7 rs1713985 was found associated with Age-Related Macular Degeneration in a Chinese Population." ci 2013 Nov 14 Abstract

Chen P, Ong RT, Tay WT, Sim X, Ali M, Xu H, Suo C, Liu J, Chia KS, Vithana E, Young TL, Aung T, Lim WY, Khor CC, Cheng CY, Wong TY, Teo YY, Tai ES "A Study Assessing the Association of Glycated Hemoglobin A1C (HbA1C) Associated Variants with HbA1C, Chronic Kidney Disease and Diabetic Retinopathy in Populations of Asian Ancestry." PLoS One 2013 ; 8(11) : e79767 Epub 2013 Nov 7 Abstract

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, Burdon KP, Craig JE, Iyengar SK, Igo RP, Lass JH, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ, 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, 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 "Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error." Am J Hum Genet 2013 Aug 8 ; 93(2) : 264-77 Abstract

Ottenhoff TH, Dass RH, Yang N, Zhang MM, Wong HE, Sahiratmadja E, Khor CC, Alisjahbana B, van Crevel R, Marzuki S, Seielstad M, van de Vosse E, Hibberd ML "Genome-wide expression profiling identifies type 1 interferon response pathways in active tuberculosis." PLoS One 2012 ; 7(9) : e45839 Epub 2012 Sep 21 Abstract

Wilm A, Aw PP, Bertrand D, Yeo GH, Ong SH, Wong CH, Khor CC, Petric R, Hibberd ML, Nagarajan N "LoFreq: a sequence-quality aware, ultra-sensitive variant caller for uncovering cell-population heterogeneity from high-throughput sequencing datasets." Nucleic Acids Res 2012 Oct 12 Abstract

Eyre S, Bowes J, Diogo D, Lee A, Barton A, Martin P, Zhe rnakova A, Stahl E, Viatte S, McAllister K, Amos CI, Padyukov L, Toes RE, Huizinga TW, Wijmenga C, Trynka G, Franke L, Westra HJ, Alfredsson L, Hu X, Sandor C, de Bakker PI, Davila S, Khor CC, Heng KK, Andrews R, Edkins S, Hunt SE, Langford C, Symmons D, Concannon P, Onengut-Gumuscu S, Rich SS, Deloukas P, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Arlsetig L, Martin J, Rantapää-Dahlqvist S, Plenge RM, Raychaudhuri S, Klareskog L, Gregersen PK, Worthington J "High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis." Nat Genet 2012 Nov 11 Epub 2012 Nov 11 Abstract

Nagarajan N, Bertrand D, Hillmer AM, Zang ZJ, Yao F, Jacques PE, Teo AS, Cutcutache I, Zhang Z, Lee WH, Sia YY, Gao S, Ariyaratne PN, Ho A, Woo XY, Veeravali L, Ong CK, Deng N, Desai KV, Khor CC, Hibberd ML, Shahab A, Rao J, Wu M, Teh M, Zhu F, Chin SY, Pang B, So JB, Bourque G, Soong R, Sung WK, Teh BT, Rozen S, Ruan X, Yeoh KG, Tan PB, Ruan Y "Whole-genome reconstruction and mutational signatures in gastric cancer." Genome Biol 2012 Dec 13 ; 13(12) : R115 Epub 2012 Dec 13 Abstract

Vithana EN#, Khor CC#, Qiao C, Nongpiur ME, George R, Chen LJ, Do T, Abu-Amero K, Huang CK, Low S, Tajudin LS, Perera SA, Cheng CY, Xu L, Jia H, Ho CL, Sim KS, Wu RY, Tham CC, Chew PT, Su DH, Oen FT, Sarangapani S, Soumittra N, Osman EA, Wong HT, Tang G, Fan S, Meng H, Huong DT, Wang H, Feng B, Baskaran M, Shantha B, Ramprasad VL, Kumaramanickavel G, Iyengar SK, How AC, Lee KY, Sivakumaran TA, Yong VH, Ting SM, Li Y, Wang YX, Tay WT, Sim X, Lavanya R, Cornes BK, Zheng YF, Wong TT, Loon SC, Yong VK, Waseem N, Yaakub A, Chia KS, Allingham RR, Hauser MA, Lam DS, Hibberd ML, Bhattacharya SS, Zhang M, Teo YY, Tan DT, Jonas JB, Tai ES, Saw SM, Hon DN, Al-Obeidan SA, Liu J, Chau TN, Simmons CP, Bei JX, Zeng YX, Foster PJ, Vijaya L, Wong TY, Pang CP, Wang N#, Aung T# # These authors jointly directed this work "Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma." Nature Genetics 2012 Aug 26 Epub 2012 Aug 26 Abstract

Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ "X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development." American Journal of Human Genetics 2012 Jan 24 Abstract

Khor CC, Hibberd ML "Host-pathogen interactions revealed by human genome-wide surveys." Trends in Genetics 2012 Mar 22 Abstract

Fan Q, Barathi VA, Cheng CY, Zhou X, Meguro A, Nakata I, Khor CC, Goh LK, Li YJ, Lim W, Ho CE, Hawthorne F, Zheng Y, Chua D, Inoko H, Yamashiro K, Ohno-Matsui K, Matsuo K, Matsuda F, Vithana E, Seielstad M, Mizuki N, Beuerman RW, Tai ES, Yoshimura N, Aung T, Young TL, Wong TY, Teo YY, Saw SM "Genetic variants on chromosome 1q41 influence ocular axial length and high myopia." PLoS Genet 2012 Jun ; 8(6) : e1002753 Epub 2012 Jun 7 Abstract

Verhoeven VJ, Hysi PG, Saw SM, Vitart V, Mirshahi A, Guggenheim JA, Cotch MF, Yamashiro K, Baird PN, Mackey DA, Wojciechowski R, Ikram MK, Hewitt AW, Duggal P, Janmahasatian S, Khor CC, Fan Q, Zhou X, Young TL, Tai ES, Goh LK, Li YJ, Aung T, Vithana E, Teo YY, Tay W, Sim X, Rudan I, Hayward C, Wright AF, Polasek O, Campbell H, Wilson JF, Fleck BW, Nakata I, Yoshimura N, Yamada R, Matsuda F, Ohno-Matsui K, Nag A, McMahon G, Pourcain BS, Lu Y, Rahi JS, Cumberland PM, Bhattacharya S, Simpson CL, Atwood LD, Li X, Raffel LJ, Murgia F, Portas L, Despriet DD, van Koolwijk LM, Wolfram C, Lackner KJ, Tönjes A, Mägi R, Lehtimäki T, Kähönen M, Esko T, Metspalu A, Rantanen T, Pärssinen O, Klein BE, Meitinger T, Spector TD, Oostra BA, Smith AV, de Jon g PT, Hofman A, Amin N, Karssen LC, Rivadeneira F, Vingerling JR, Eiríksdóttir G, Gudnason V, Döring A, Bettecken T, Uitterlinden AG, Williams C, Zeller T, Castagné R, Oexle K, van Duijn CM, Iyengar SK, Mitchell P, Wang JJ, Höhn R, Pfeiffer N, Bailey-Wilson JE, Stambolian D, Wong TY, Hammond CJ, Klaver CC "Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium." Hum Genet 2012 Jun 5 Epub 2012 Jun 5 Abstract

Kelly MA, Rees SD, Hydrie MZ, Shera AS, Bellary S, O\'Hare JP, Kumar S, Taheri S, Basit A, Barnett AH; DIAGRAM Consortium; SAT2D Consortium. "Circadian gene variants and susceptibility to type 2 diabetes: a pilot study." PLoS One 2012 ; 7(4) : e32670 Epub 2012 Apr 2 Abstract

Wang X, Liu X, Sim X, Xu H, Khor CC, Ong RT, Tay WT, Suo C, Poh WT, Ng DP, Liu J, Aung T, Chia KS, Wong TY, Tai ES, Teo YY "A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations." Eur J Hum Genet 2011 Nov 30 Epub 2011 Nov 30 Abstract

Fan Q, Zhou X, Khor CC, Cheng CY, Goh LK, Sim X, Tay WT, Li YJ, Ong RT, Suo C, Cornes B, Ikram MK, Chia KS, Seielstad M, Liu J, Vithana E, Young TL, Tai ES, Wong TY, Aung T, Teo YY, Saw SM "Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism." PLoS Genet 2011 Dec ; 7(12) : e1002402 Epub 2011 Dec 1 Abstract

Tan Z, Zhang Z, Liu J, Kwoh CK, Ong SH, Teo YY, Khor CC, Tai ES, Aung T, Vithana E, Wong TY "A hybrid framework for genome wide epistasis discovery." Conf Proc IEEE Eng Med Biol Soc 2011 Aug ; 2011 : 6479-82 Abstract

Khor CC*, Davila S*, Breunis WB*, Lee YC, Shimizu C, Wright VJ, Yeung RS, Tan DE, Sim KS, Wang JJ, Wong TY, Pang J, Mitchell P, Cimaz R, Dahdah N, Cheung YF, Huang GY, Yang W, Park IS, Lee JK, Wu JY, Levin M, Burns JC, Burgner D, Kuijpers TW, Hibberd ML, on behalf of the Hong Kong-Shanghai, Korean, Taiwan, U.S. and International, Kawasaki Disease Genetics Consortiums. (* Joint first authors ) "Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease." Nature Genetics 2011 Nov 13 Epub 2011 Nov 13 Abstract

Khor CC, Chau TN, Pang J, Davila S, Long HT, Ong RT, Dunstan SJ, Wills B, Farrar J, Van Tram T, Gan TT, Binh NT, Tri LT, Lien LB, Tuan NM, Tham NT, Lanh MN, Nguyet NM, Hieu NT, Van N Vinh Chau N, Thuy TT, Tan DE, Sakuntabhai A, Teo YY, Hibberd ML, Simmons CP "Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1." Nature Genetics 2011 Oct 16 Epub 2011 Oct 16 Abstract

Khor CC, Hibberd ML "Revealing the molecular signatures of host-pathogen interactions." Genome Biology 2011 Oct 19 ; 12(10) : 229 Epub 2011 Oct 19 Abstract

Zhang F, Liu H, Chen S, Low H, Sun L, Cui Y, Chu T, Li Y, Fu X, Yu Y, Yu G, Shi B, Tian H, Liu D, Yu X, Li J, Lu N, Bao F, Yuan C, Liu J, Liu H, Zhang L, Sun Y, Chen M, Yang Q, Yang H, Yang R, Zhang L, Wang Q, Liu H, Zuo F, Zhang H, Khor CC, Hibberd ML, Yang S, Liu J, Zhang X "Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy." Nat Genet 2011 Oct 23 Epub 2011 Oct 23 Abstract

Kooner JS, Saleheen D, Sim X, Sehmi J, Zhang W, Frossard P, Been LF, Chia KS, Dimas AS, Hassanali N, Jafar T, Jowett JB, Li X, Radha V, Rees SD, Takeuchi F, Young R, Aung T, Basit A, Chidambaram M, Das D, Grunberg E, Hedman AK, Hydrie ZI, Islam M, Khor CC, Kowlessur S, Kristensen MM, Liju S, Lim WY, Matthews DR, Liu J, Morris AP, Nica AC, Pinidiyapathirage JM, Prokopenko I, Rasheed A, Samuel M, Shah N, Shera AS, Small KS, Suo C, Wickremasinghe AR, Wong TY, Yang M, Zhang F, Abecasis GR, Barnett AH, Caulfield M, Deloukas P, Frayling TM, Froguel P, Kato N, Katulanda P, Kelly MA, Liang J, Mohan V, Sanghera DK, Scott J, Seielstad M, Zimmet PZ, Elliott P, Teo YY, McCarthy MI, Danesh J, Tai ES, Chambers JC "Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci." Nat Genet 2011 Aug 28 Epub 2011 Aug 28 Abstract

Khor CC*, Ramdas WD*, Vithana EN*, Cornes BK, Sim X, Tay WT, Saw SM, Zheng Y, Lavanya R, Wu R, Wang JJ, Mitchell P, Uitterlinden AG, Rivadeneira F, Teo YY, Chia KS, Seielstad M, Hibberd M, Vingerling JR, Klaver CC, Jansonius NM, Tai ES, Wong TY, van Duijn CM, Aung T * Joint first authors "Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area." Human Molecular Genetics 2011 May 1 ; 20(9) : 1864-72 Epub 2011 Feb 9 Abstract

Vithana EN*, Aung T*, Khor CC*, Cornes BK, Tay WT, Sim X, Lavany a R, Wu R, Zheng Y, Hibberd ML, Chia KS, Seielstad M, Goh LK, Saw SM, Tai ES, Wong TY *Joint first authors "Collagen-related genes influence the glaucoma risk factor, central corneal thickness." Human Molecular Genetics 2011 Feb 15 ; 20(4) : 649-58 Epub 2010 Nov 23 Abstract

Khor CC*, Davila S*, Shimizu C, Sheng S, Matsubara T, Suzuki Y, Newburger JW, Baker A, Burgner D, Breunis W, Kuijpers T, Wright VJ, Levin M, Hibberd ML, Burns JC. (*These authors contributed equally) "Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease." J Med Genet 2011 May 13 Abstract

Li YJ, Goh L, Khor CC, Fan Q, Yu M, Han S, Sim X, Ong RT, Wong TY, Vith ana EN, Yap E, Nakanishi H, Matsuda F, Ohno-Matsui K, Yoshimura N, Seielstad M, Tai ES, Young TL, Saw SM "Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese." Ophthalmology 2011 Feb ; 118(2) : 368-75 Epub 2010 Nov 20 Abstract

Thalamuthu A*, Khor CC*, Venkataraman D, Koh LW, Tan DT, Aung T, Mehta JS, Vithana EN *Equal contribution "Association of TCF4 Gene Polymorphisms with Fuchs Corneal Dystrophy in the Chinese." Invest Ophthalmol Vis Sci 2011 Jun 8 Abstract

Han S, Chen P, Fan Q, Khor CC, Sim X, Tay WT, Ong RT, Suo C, Goh LK, Lavanya R, Zheng Y, Wu R, Seielstad M, Vithana E, Liu J, Chia KS, Lee JJ, Tai ES, Wong TY, Aung T, Teo YY, Saw SM "Association of variants in FRAP1 and PDGFRA with corneal curvature in three Asian populations from Singapore." Hum Mol Genet 2011 Jun 10 Abstract

Cornes BK*, Khor CC*, Nongpiur ME*, Xu L, Tay WT, Zheng Y, Lavanya R, Li Y, Wu R, Sim X, Wang YX, Chen P, Teo YY, Chia KS, Seielstad M, Liu J, Hibberd ML, Cheng CY, Saw SM, Tai ES, Jonas JB, Vithana EN, Wong TY, Aung T * Joint first authors "Identification of Four Novel Variants That Influence Central Corneal Thickness in Multi-Ethnic Asian Populations." Human Molecular Genetics 2011 Oct 7 Abstract

Suo C, Xu H, Khor CC, Ong RT, Sim X, Chen J, Tay WT, Sim KS, Zeng YX, Zhang X, Liu J, Tai ES, Wong TY, Chia KS, Teo YY "Natural positive selection and north-south genetic diversity in East Asia." Eur J Hum Genet 2011 Jul 27 Epub 2011 Jul 27 Abstract

Xu H, Poh WT, Sim X, Twee-Hee Ong R, Suo C, Tay WT, Khor CC, Seielstad M, Liu J, Aung T, Tai ES, Wong TY, Chia KS, Teo YY "SgD-CNV, a database for common and rare copy number variants in three Asian populations." Hum Mutat 2011 Aug 31 Abstract

Breunis WB, Davila S, Shimizu C, Oharaseki T, Takahashi K, van Houdt M, Khor CC, Wright VJ, Levin M, Burns JC, Burgner D, Hibberd ML, Kuijpers TW "Disruption of vascular homeostasis in Kawasaki Disease patients: Involvement of vascular endothelial growth factor and angiopoietins." Arthritis Rheum 2011 Sep 8 Abstract

Lim L, Subramaniam S, Liqing X, Khor CC, Goh D, Berne YI "Clinical, Audiometric, Radiologic, and Genetic Profiles of Southeast Asian Children With Hearing Loss Due to Enlarged Vestibular Aqueduct." Otol Neurotol 2011 Oct 7 Abstract

Davila S, Wright VJ, Khor CC, Sim KS, Binder A, Breunis WB, Inwald D, Nadel S, Betts H, Carrol ED, de Groot R, Hermans PW, Hazelzet J, Emonts M, Lim CC, Kuijpers TW, Martinon-Torres F, Salas A, Zenz W, Levin M, Hibberd ML "Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease." Nature Genetics 2010 Sep ; 42(9) : 772-6 Epub 2010 Aug 8 Abstract

Khor CC*#, Vannberg FO*, Chapman SJ*, Guo H*, Wong SH, Walley AJ, Vukcevic D, Rautanen A, Mills TC, Chang KC, Kam KM, Crampin AC, Ngwira B, Leung CC, Tam CM, Chan CY, Sung JJ, Yew WW, Toh KY, Tay SK, Kwiatkowski D, Lienhardt C, Hien TT, Day NP, Peshu N, Marsh K, Maitland K, Scott JA, Williams TN, Berkley JA, Floyd S, Tang NL, Fine PE, Goh DL, Hill AV * Joint first authors; # Corresponding author "CISH and susceptibility to infectious diseases." New England Journal of Medicine 2010 Jun 3 ; 362(22) : 2092-101 Epub 2010 May 19 Abstract

Wong SH, Gochhait S, Malhotra D, Pettersson FH, Teo YY, Khor CC, Rautanen A, Chapman SJ, Mills TC, Srivastava A, Rudko A, Freidin MB, Puzyrev VP, Ali S, Aggarwal S, Chopra R, Reddy BS, Garg VK, Roy S, Meisner S, Hazra SK, Saha B, Floyd S, Keating BJ, Kim C, Fairfax BP, Knight JC, Hill PC, Adegbola RA, Hakonarson H, Fine PE, Pitchappan RM, Bamezai RN, Hill AV, Vannberg FO "Leprosy and the adaptation of human toll-like receptor 1." PLoS Pathog 2010 ; 6 : e1000979 Epub 2010 Jul 1 Abstract

Chapman SJ, Khor CC, Vannberg FO, Rautanen A, Walley A, Segal S, Moore CE, Davies RJ, Day NP, Peshu N, Crook DW, Berkley JA, Williams TN, Scott JA, Hill AV "Common NFKBIL2 polymorphisms and susceptibility to pneumococcal disease: a genetic association study." Crit Care 2010 ; 14(6) : R227 Epub 2010 Dec 20 Abstract

Khor CC, Hibberd ML "Shared pathways to infectious disease susceptibility?" Genome Med 2010 ; 2(8) : 52 Epub 2010 Aug 10 Abstract

Khor CC, Fan Q, Goh L, Tan D, Young TL, Li YJ, Seielstad M, Goh DL, Saw SM "Support for TGFB1 as a susceptibility gene for high myopia in individuals of Chinese descent." Arch Ophthalmol 2010 Aug ; 128(8) : 1081-4 Abstract

Khor CC, Goh DL "Strategies for identifying the genetic basis of dyslipidemia: genome-wide association studies vs. the resequencing of extremes." Curr Opin Lipidol 2010 Apr ; 21(2) : 123-7 Abstract

Khor CC, Fan Q, Goh LK, Wong TY, Li YJ, Cheung N, Seielstad M, Goh DL, Young TL, Tai ES, Saw SM "Hepatocyte growth factor and retinal arteriolar diameter in Singapore Chinese." Ophthalmology 2010 May ; 117(5) : 939-45 Epub 2010 Feb 1 Abstract

Chapman SJ, Vannberg FO, Khor CC, Raut anen A, Maskell NA, Davies CW, Moore CE, Day NP, Crook DW, Davies RJ, Hill AV "Mannose-binding lectin genotypes: lack of association with susceptibility to thoracic empyema." BMC Med Genet 2010 ; 11 : 5 Epub 2010 Jan 15 Abstract

Chapman SJ, Khor CC, Vannberg FO, Rautanen A, Segal S, Moore CE, Davies RJ, Day NP, Peshu N, Crook DW, Berkley JA, Williams TN, Scott JA, Hill AV "NFKBIZ polymorphisms and susceptibility to pneumococcal disease in European and African populations." Genes Immun 2010 Jun ; 11(4) : 319-25 Epub 2009 Oct 1 Abstract

Khor CC, Grignani R, Ng DP, Toh KY, Chia KS, Tan D, Goh DL, Saw SM "cMET and refractive error progression in children." Ophthalmology 2009 Aug ; 116(8) : 1469-74, 1474.e1 Epub 2009 Jun 4 Abstract

Khor CC "Genotyping methods to analyse polymorphisms in Toll-like receptors and disease." Methods Mol Biol 2009 ; 517 : 297-309 Abstract

Vannberg FO, Chapman SJ, Khor CC, Tosh K, Floyd S, Jackson-Sillah D, Crampin A, Sichali L, Bah B, Gustafson P, Aaby P, McAdam KP, Bah-Sow O, Lienhardt C, Sirugo G, Fine P, Hill AV "CD209 genetic polymorphism and tuberculosis disease." PLoS One 2008 ; 3(1) : e1388 Abstract

Khor CC, Vannberg FO, Chapman SJ, Walley A, Aucan C, Loke H, White NJ, Peto T, Khor LK, Kwiatkowski D, Day N, Scott A, Berkley JA, Marsh K, Peshu N, Maitland K, Williams TN, Hill AV "Positive replication and linkage disequilibrium mapping of the chromosome 21q22.1 malaria susceptibility locus." Genes Immun 2007 Oct ; 8(7) : 570-6 Epub 2007 Aug 16 Abstract

Chapman SJ, Khor CC, Vannberg FO, Frodsham A, Walley A, Maskell NA, Davies CW, Segal S, Moore CE, Gillespie SH, Denny P, Day NP, Crook DW, Davies RJ, Hill AV "IkappaB genetic polymorphisms and invasive pneumococcal disease." Am J Respir Crit Care Med 2007 Jul 15 ; 176(2) : 181-7 Epub 2007 Apr 26 Abstract

Khor CC, Chapman SJ, Vannberg FO, Dunne A, Murphy C, Ling EY, Frodsham AJ, Walley AJ, Kyrieleis O, Khan A, Aucan C, Segal S, Moore CE, Knox K, Campbell SJ, Lienhardt C, Scott A, Aaby P, Sow OY, Grignani RT, Sillah J, Sirugo G, Peshu N, Williams TN, Maitland K, Davies RJ, Kwiatkowski DP, Day NP, Yala D, Crook DW, Marsh K, Berkley JA, O'Neill LA, Hill AV "A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis." Nature Genetics 2007 Apr ; 39(4) : 523-8 Epub 2007 Feb 25 Abstract

Chapman SJ, Khor CC, Vannberg FO, Maskell NA, Davies CW, Hedley EL, Segal S, Moore CE, Knox K, Day NP, Gillespie SH, Crook DW, Davies RJ, Hill AV "PTPN22 and invasive bacterial disease." Nature Genetics 2006 May ; 38(5) : 499-500 Abstract

Chapman SJ, Vannberg FO, Khor CC, Segal S, Moore CE, Knox K, Day NP, Davies RJ, Crook DW, Hill AV "Functional polymorphisms in the FCN2 gene are not associated with invasive pneumococcal disease." Mol Immunol 200 7 May ; 44(12) : 3267-70 Epub 2007 Mar 26 Abstract

RESEARCH

Selected Publications

• Suzuki Y, Ng SB, Chua C, Leow WQ, Chng J, Liu SY, Ramnarayanan K, Gan A, Ho DL, Ten R, Su Y, Lezhava A, Lai JH, Koh D, Lim KH, Tan P, Rozen SG, Tan IB "Multiregion ultra-deep sequencing reveals early intermixing and variable levels of intratumoral heterogeneity in colorectal cancer." Mol Oncol 2017 Feb ; 11(2) : 124-139 Abstract
• Wang SR, Malik S, Tan IB, Chan YS, Hoi Q, Ow JL, He CZ, Ching CE, Poh DY, Seah HM, Cheung KH, Perumal D, Devasia AG, Pan L, Ang S, Lee SE, Ten R, Chua C, Tan DS, Qu JZ, Bylstra YM, Lim L, Lezhava A, Ng PC, Wong CW, Lim T, Tan P "Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer." J Mol Diagn 2016 May ; 18(3) : 416-24 Abstract
• Yoshida K, Takano J, Ishizu Y, Lezhava A, Ieiri I, Maeda K, Hayashizaki Y, Sugiyama Y "Direct and rapid genotyping of SLCO1B1 388A>G and 521T>C in human blood specimens using the SmartAmp-2 method." AAPS J 2013 Apr ; 15(2) : 618-22 Epub 2013 Mar 8 Abstract
• Kawai Y, Kimura Y, Lezhava A, Kanamori H, Usui K, Hanami T, Soma T, Morlighem JÉ, Saga S, Ishizu Y, Aoki S, Endo R, Oguchi-Katayama A, Kogo Y, Mitani Y, Ishidao T, Kawakami C, Kurata H, Furuya Y, Saito T, Okazaki N, Chikahira M, Hayashi E, Tsuruoka S, Toguchi T, Saito Y, Ban T, Izumi S, Uryu H, Kudo K, Sakai-Tagawa Y, Kawaoka Y, Hirai A, Hayashizaki Y, Ishikawa T "One-step detection of the 2009 pandemic influenza A(H1N1) virus by the RT-SmartAmp assay and its clinical validation." PLoS One 2012 ; 7(1) : e30236 Epub 2012 Jan 25 Abstract
• Kimura Y, de Hoon MJ, Aoki S, Ishizu Y, Kawai Y, Kogo Y, Daub CO, Lezhava A, Arner E, Hayashizaki Y "Optimization of turn-back primers in isothermal amplification." Nucleic Acids Res 2011 May ; 39(9) : e59 Epub 2011 Feb 9 Abstract
• Lezhava A, Ishidao T, Ishizu Y, Naito K, Hanami T, Katayama A, Kogo Y, Soma T, Ikeda S, Murakami K, Nogawa C, Itoh M, Mitani Y, Harbers M, Okamoto A, Hayashizaki Y "Exciton Primer-mediated SNP detection in SmartAmp2 reactions." Hum Mutat 2010 Feb ; 31(2) : 208-17 Abstract
• Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura K, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T "Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?" FASEB J 2009 Jun ; 23(6) : 2001-13 Epub 2009 Apr 21 Abstract
• Aomori T, Yamamoto K, Oguchi-Katayama A, Kawai Y, Ishidao T, Mitani Y, Kogo Y, Lezhava A, Fujita Y, Obayashi K, Nakamura K, Kohnke H, Wadelius M, Ekström L, Skogastierna C, Rane A, Kurabayashi M, Murakami M, Cizdziel PE, Hayashizaki Y, Horiuchi R "Rapid single-nucleotide polymorphism detection of cytochrome P450 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genes for the warfarin dose adjustment by the SMart-amplification process version 2." Clin Chem 2009 Apr ; 55(4) : 804-12 Epub 2009 Jan 30 Abstract
• Hoshi K, Takakura H, Mitani Y, Tatsumi K, Momiyama N, Ichikawa Y, Togo S, Miyagi T, Kawai Y, Kogo Y, Kikuchi T, Kato C, Arakawa T, Uno S, Cizdziel PE, Lezhava A, Ogawa N, Hayashizaki Y, Shimada H "Rapid detection of epidermal growth factor receptor mutations in lung cancer by the SMart-Amplification Process." Clin Cancer Res 2007 Sep 1 ; 13(17) : 4974-83 Abstract
• Mitani Y, Lezhava A, Kawai Y, Kikuchi T, Oguchi-Katayama A, Kogo Y, Itoh M, Miyagi T, Takakura H, Hoshi K, Kato C, Arakawa T, Shibata K, Fukui K, Masui R, Kuramitsu S, Kiyotani K, Chalk A, Tsunekawa K, Murakami M, Kamataki T, Oka T, Shimada H, Cizdziel PE, Hayashizaki Y "Rapid SNP diagnostics using asymmetric isothermal amplification and a new mismatch-suppression technology." Nat Methods 2007 Mar ; 4(3) : 257-62 Epub 2007 Feb 18 Abstract

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2012 University of Washington, Ph.D. in Genome Sciences
2006 University of Wisconsin-Madison, B.S. in Molecular Biology

Nov 2012 - Oct 2016 Research Fellow, Microfluidics Systems Biology, IMCB, Singapore

2003 National Science Scholarship, A*STAR, Singapore

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To enable automated image-based screening at sub-cellular resolution

To probe kinetic parameters of biological processes in throughput mode with live cell automated microscopy

Discovery of new gene functions and phenotypes after depletion or knock-down / enhancer or over expression

Identification of new chemical or biological entities that induce equivalent phenotypes

Using chemico-genomic approaches to discover mode of action of compounds (comparison RNAi and chemical screens)

To build a tiered approach for Predictive Toxicity Screening using relevant 3D / Organotypic cell culture models

1995 Bachelors in chemistry Bharathidasan University India
1997 Masters in Biochemistry Annamalai University India
2003 PhD in Biotechnology Centre for Biotech, Anna University India

Nov 2012 - Sep 2013 Scientific Director -HTS/HCS Screening Core Facility, C-CAMP, NCBS-TIFR, Bangalore, India

Aug 2009 - Oct 2012 Group Leader, Screening and Lead Evaluation, Department of HTS, Piramal Healthcare Ltd, Mumbai, India

Aug 2005 - Aug 2009 Senior Research Scientist, Department of HTS, Piramal Life Sciences Ltd, Mumbai, India

Jun 2003 - Aug 2005 Lecturer Biotechnology, Center for Biotechnology, Anna University, Chennai, India

1999 - 2000 Junior Research Fellow, Department of Biotechnology, Government of India

2000 - 2003 Senior Research Fellow, Department of Biotechnology, Government of India

2003 -2005 Principal Research Consultant in the area of cancer drug discovery for Nicholas Piramal India Limited, Mumbai

2006 & 2008 “Excel” achievement award for the best performance in the ongoing oncology drug discovery programme.

2011 Team award for effective co-ordination and completion of 2,57,000 microbial extracts screening for four therapeutic areas in DBT-Multi Institutional programme

Ragavan RV, Kumar KM, Vijayakumar V, Sarveswari S, Ramaiah S, Anbarasu A, Karthikeyan S, Giridharan P, Kumari NS "β-Keto esters from ketones and ethyl chloroformate: a rapid, general, efficient synthesis of pyrazolones and their antimicrobial, in silico and in vitro cytotoxicity studies." Org Med Chem Lett 2013 ; 3(1) : 6 Epub 2013 Jul 19 Abstract

Subramaniam D, Periyasamy G, Ponnurangam S, Chakrabarti D, Sugumar A, Padigaru M, Weir SJ, Balakrishnan A, Sharma S, Anant S "CDK-4 inhibitor P276 sensitizes pancreatic cancer cells to gemcitabine-induced apoptosis." Mol Cancer Ther 2012 Jul ; 11(7) : 1598-608 Epub 2012 Apr 24 Abstract

Giridharan P, Verekar SA, Khanna A, Mishra PD, Deshmukh SK "Anticancer activity of sclerotiorin, isolated from an endophytic fungus Cephalotheca faveolata Yaguchi, Nishim. & Udagawa." Indian J Exp Biol 2012 Jul ; 50(7) : 464-8 Abstract

Ramachandran G, Karthikeyan NS, Giridharan P, Sathiyanarayanan KI "Efficient iodine catalyzed three components domino reaction for the synthesis of 1-((phenylthio)(phenyl)methyl)pyrrolidin-2-one derivatives possessing anticancer activities." Org Biomol Chem 2012 Jul 28 ; 10(28) : 5343-6 Epub 2012 Jun 14 Abstract

Chakor N, Patil G, Writer D, Periyasamy G, Sharma R, Roychowdhury A, Mishra PD "First total synthesis of prasinic acid and its anticancer activity." Bioorg Med Chem Lett 2012 Nov 1 ; 22(21) : 6608-10 Epub 2012 Sep 13 Abstract

Chauthe SK, Bharate SB, Periyasamy G, Khanna A, Bhutani KK, Mishra PD, Singh IP "One pot synthesis and anticancer activity of dimeric phloroglucinols." Bioorg Med Chem Lett 2012 Mar 15 ; 22(6) : 2251-6 Epub 2012 Jan 31 Abstract

Khanna A, Mahalingam K, Chakrabarti D, Periyasamy G "Ets-1 expression and gemcitabine chemoresistance in pancreatic cancer cells." Cell Mol Biol Lett 2011 Mar ; 16(1) : 101-13 Epub 2010 Dec 27 Abstract

Deshmukh SK, Mishra PD, Kulkarni-Almeida A, Verekar S, Sahoo MR, Periyasamy G, Goswami H, Khanna A, Balakrishnan A, Vishwakarma R "Anti-inflammatory and anticancer activity of ergoflavin isolated from an endophytic fungus." Chem Biodivers 2009 May ; 6(5) : 784-9 Abstract

Subramaniam D, Giridharan P, Murmu N, Shankaranarayanan NP, May R, Houchen CW, Ramanujam RP, Balakrishnan A, Vishwakarma RA, Anant S "Activation of apoptosis by 1-hydroxy-5,7-dimethoxy-2-naphthalene-carboxaldehyde, a novel compound from Aegle marmelos." Cancer Res 2008 Oct 15 ; 68(20) : 8573-81 Abstract

Senthil V, Ramadevi S, Venkatakrishnan V, Giridharan P, Lakshmi BS, Vishwakarma RA, Balakrishnan A "Withanolide induces apoptosis in HL-60 leukemia cells via mitochondria mediated cytochrome c release and caspase activation." Chem Biol Interact 2007 Apr 5 ; 167(1) : 19-30 Epub 2007 Jan 12 Abstract

Giridharan P, Somasundaram ST, Perumal K, Vishwakarma RA, Karthikeyan NP, Velmurugan R, Balakrishnan A "Novel substituted methylenedioxy lignan suppresses proliferation of cancer cells by inhibiting telomerase and activation of c-myc and caspases leading to apoptosis." Br J Cancer 2002 Jul 1 ; 87(1) : 98-105 Abstract

RESEARCH

By explicitly recognizing the importance of individual and population-level genetic variations and other molecular factors in determining or predicting clinical outcomes, Precision Medicine (PM) promises to transform how we assess disease risk, deliver more accurate diagnoses, and tailor appropriate therapies while minimizing treatment-related side effects. To address the challenge of big data analytics and integrative omics for PM, four institutions have come together to form the Centre for Big Data and Integrative Genomics (c-BIG).

As the Programme Manager for c-BIG, Dr. Bertin coordinates efforts and tracks progress across the centre's four partner institutions (GIS, BII, IHPC, I2R), oversees the deployment of the multi-institutional centre’s data acquisition, storage, and analytic capacities for large-scale clinical and research omics, and drives industry collaborations related to c-BIG infrastructure.

Links

Selected Publications

• Hon CC*, Ramilowski JA*, Harshbarger J*, Bertin N*, Rackham OJ*, Gough J, Denisenko E, Schmeier S, Poulsen TM, Severin J, Lizio M, Kawaji H, Kasukawa T, Itoh M, Burroughs AM, Noma S, Djebali S, Alam T, Medvedeva YA, Testa AC, Lipovich L, Yip CW, Abugessaisa I, Mendez M, Hasegawa A, Tang D, Lassmann T, Heutink P, Babina M, Wells CA, Kojima S, Nakamura Y, Suzuki H, Daub CO, de Hoon MJ, Arner E, Hayashizaki Y, Carninci P, Forrest AR. An atlas of human long non-coding RNAs with accurate 5' ends. Nature 2017. Abstract
• Severin J, Lizio M, Harshbarger J, Kawaji H, Daub, Hayashizaki Y, Bertin N^†, Forrest AR^†. Interactive visualization and analysis of large-scale sequencing datasets using ZENBU. Nat Biotechnol 2014. Abstract
• Plessy C*^†, Bertin N*^†, Takahashi H, Simone R, Salimullah M, Lassmann T, Vitezic M, Severin J, Olivarius S, Lazarevic D, Hornig N, Orlando V, Bell I, Gao H, Dumais J, Kapranov P, Wang H, Davis CA, Gingeras TR, Kawai J, Daub CO, Hayashizaki Y, Gustincich S, Carninci P^†. Linking promoters to functional transcripts in small samples with nanoCAGE and CAGEscan. Nat Methods 2010. Abstract
• Han JD, Bertin N, Hao T, Goldberg DS, Ber riz GF, Zhang LV, Dupuy D, Walhout AJ, Cusick ME, Roth FP, Vidal M. Evidence for dynamically organized modularity in the yeast protein-protein interaction network. Nature 2004. Abstract
• Li S*, Armstrong CM*, Bertin N*, Ge H*, Milstein S*, Boxem M*, Vidalain PO*, Han JD*, Chesneau A, Hao T, Goldberg DS, Li N, Martinez M, Rual JF, Lamesch P, Xu L, Tewari M, Wong SL, Zhang LV, Berriz GF, Jacotot L, Vaglio P, Reboul J, Hirozane-Kishikawa T, Li Q, Gabel HW, Elewa A, Baumgartner B, Rose DJ, Yu H, Bosak S, Sequerra R, Fraser A, Mango SE, Saxton WM, Strome S, Van Den Heuvel S, Piano F, Vandenhaute J, Sardet C, Gerstein M, Doucette-Stamm L, Gunsalus KC, Harper JW, Cusick ME, Roth FP, Hill DE, Vidal M. A map of the interactome network of the metazoan C. elegans. Science 2004. Abstract