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Items: 1 to 20 of 58

1.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S.

Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476.

2.

Genome-wide association study of Parkinson's disease in East Asians.

Foo JN, Tan LC, Irwan ID, Au WL, Low HQ, Prakash KM, Ahmad-Annuar A, Bei J, Chan AY, Chen CM, Chen YC, Chung SJ, Deng H, Lim SY, Mok V, Pang H, Pei Z, Peng R, Shang HF, Song K, Tan AH, Wu YR, Aung T, Cheng CY, Chew FT, Chew SH, Chong SA, Ebstein RP, Lee J, Saw SM, Seow A, Subramaniam M, Tai ES, Vithana EN, Wong TY, Heng KK, Meah WY, Khor CC, Liu H, Zhang F, Liu J, Tan EK.

Hum Mol Genet. 2016 Dec 22. pii: ddw379. doi: 10.1093/hmg/ddw379. [Epub ahead of print]

PMID:
28011712
3.

A Synonymous Variant in IL10RA Affects RNA Splicing in Paediatric Patients with Refractory Inflammatory Bowel Disease.

Oh SH, Baek J, Liany H, Foo JN, Kim KM, Yang SC, Liu J, Song K.

J Crohns Colitis. 2016 Nov;10(11):1366-1371.

PMID:
27177777
4.

Large 3-Mb deletions at 22q11.2 locus in Parkinson's disease and schizophrenia.

Foo JN, Lee J, Tan LC, Liu J, Tan EK.

Mov Disord. 2016 Dec;31(12):1924-1925. doi: 10.1002/mds.26822. No abstract available.

PMID:
27787935
5.

Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study.

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.

Lancet Oncol. 2016 Sep;17(9):1240-7. doi: 10.1016/S1470-2045(16)30148-6.

PMID:
27470079
6.

An extended genome-wide association study identifies novel susceptibility loci for nasopharyngeal carcinoma.

Cui Q, Feng QS, Mo HY, Sun J, Xia YF, Zhang H, Foo JN, Guo YM, Chen LZ, Li M, Liu WS, Xu M, Zhou G, He F, Yu X, Jia WH, Liu J, Zeng YX, Bei JX.

Hum Mol Genet. 2016 Aug 15;25(16):3626-3634. doi: 10.1093/hmg/ddw200.

PMID:
27436580
7.

Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.

Ai Z, Li M, Liu W, Foo JN, Mansouri O, Yin P, Zhou Q, Tang X, Dong X, Feng S, Xu R, Zhong Z, Chen J, Wan J, Lou T, Yu J, Zhou Q, Fan J, Mao H, Gale D, Barratt J, Armour JA, Liu J, Yu X.

Sci Transl Med. 2016 Jun 29;8(345):345ra88. doi: 10.1126/scitranslmed.aaf2106.

PMID:
27358498
8.

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

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, Prutthipongsit 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.

Nat Genet. 2016 May;48(5):556-62. doi: 10.1038/ng.3540.

PMID:
27064256
9.

Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson's disease.

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.

Mov Disord. 2016 Apr;31(4):484-7. doi: 10.1002/mds.26495.

PMID:
26687033
10.

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Sadananda SN, Foo JN, Toh MT, Cermakova L, Trigueros-Motos L, Chan T, Liany H, Collins JA, Gerami S, Singaraja RR, Hayden MR, Francis GA, Frohlich J, Khor CC, Brunham LR.

J Lipid Res. 2015 Oct;56(10):1993-2001. doi: 10.1194/jlr.P058891.

11.

GWAS reveal novel IgA nephropathy risk loci.

Foo JN, Liu J, Yu XQ.

Oncotarget. 2015 Jun 30;6(18):15738-9. No abstract available.

12.

CHCHD2 and Parkinson's disease.

Foo JN, Liu J, Tan EK.

Lancet Neurol. 2015 Jul;14(7):681-2. doi: 10.1016/S1474-4422(15)00098-8. No abstract available.

PMID:
26067114
13.

Identification of new susceptibility loci for IgA nephropathy in Han Chinese.

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, Tai ES, Wang L, Chen N, Zhang XJ, Zeng YX, Zhang H, Liu ZH, Yu XQ, Liu JJ.

Nat Commun. 2015 Jun 1;6:7270. doi: 10.1038/ncomms8270.

14.

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

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 S, 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.

Nat Genet. 2015 Jun;47(6):689. doi: 10.1038/ng0615-689c. No abstract available.

PMID:
26018902
15.

Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.

Yin X, Low HQ, Wang L, Li Y, Ellinghaus E, Han J, Estivill X, Sun L, Zuo X, Shen C, Zhu C, Zhang A, Sanchez F, Padyukov L, Catanese JJ, Krueger GG, Duffin KC, Mucha S, Weichenthal M, Weidinger S, Lieb W, Foo JN, Li Y, Sim K, Liany H, Irwan I, Teo Y, Theng CT, Gupta R, Bowcock A, De Jager PL, Qureshi AA, de Bakker PI, Seielstad M, Liao W, Ståhle M, Franke A, Zhang X, Liu J.

Nat Commun. 2015 Apr 23;6:6916. doi: 10.1038/ncomms7916.

16.

Nonsynonymous variants in MC1R are rare in Chinese Parkinson disease cases.

Foo JN, Zhao Y, Liu J, Tan EK.

Ann Neurol. 2015 Jul;78(1):152-3. doi: 10.1002/ana.24419. No abstract available.

PMID:
25894970
17.

A common variant near TGFBR3 is associated with primary open angle glaucoma.

Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen LJ, Kee C, Garway-Heath DF, Sripriya S, Fuse N, Abu-Amero KK, Huang C, Namburi P, Burdon K, Perera SA, Gharahkhani P, Lin Y, Ueno M, Ozaki M, Mizoguchi T, Krishnadas SR, Osman EA, Lee MC, Chan AS, Tajudin LS, Do T, Goncalves A, Reynier P, Zhang H, Bourne R, Goh D, Broadway D, Husain R, Negi AK, Su DH, Ho CL, Blanco AA, Leung CK, Wong TT, Yakub A, Liu Y, Nongpiur ME, Han JC, Hon DN, Shantha B, Zhao B, Sang J, Zhang N, Sato R, Yoshii K, Panda-Jonas S, Ashley Koch AE, Herndon LW, Moroi SE, Challa P, Foo JN, Bei JX, Zeng YX, Simmons CP, Bich Chau TN, Sharmila PF, Chew M, Lim B, Tam PO, Chua E, Ng XY, Yong VH, Chong YF, Meah WY, Vijayan S, Seongsoo S, Xu W, Teo YY, Cooke Bailey JN, Kang JH, Haines JL, Cheng CY, Saw SM, Tai ES; ICAARE-Glaucoma Consortium.; NEIGHBORHOOD Consortium., Richards JE, Ritch R, Gaasterland DE, Pasquale LR, Liu J, Jonas JB, Milea D, George R, Al-Obeidan SA, Mori K, Macgregor S, Hewitt AW, Girkin CA, Zhang M, Sundaresan P, Vijaya L, Mackey DA, Wong TY, Craig JE, Sun X, Kinoshita S, Wiggs JL, Khor CC, Yang Z, Pang CP, Wang N, Hauser MA, Tashiro K, Aung T, Vithana EN.

Hum Mol Genet. 2015 Jul 1;24(13):3880-92. doi: 10.1093/hmg/ddv128.

18.

Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Cheng CY, Yamashiro K, Chen LJ, 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, Ong PG, 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, Wong TY, Khor CC.

Nat Commun. 2015 Mar 30;6:6817. doi: 10.1038/ncomms7817. No abstract available.

19.

Mitochondrial serine protease HTRA2 gene mutation in Asians with coexistent essential tremor and Parkinson disease.

Chao YX, Ng EY, Foo JN, Liu J, Zhao Y, Tan EK.

Neurogenetics. 2015 Jul;16(3):241-2. doi: 10.1007/s10048-015-0443-3. No abstract available.

PMID:
25791756
20.

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

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 S, 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, Al Shahwan S, 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.

Nat Genet. 2015 Apr;47(4):387-92. doi: 10.1038/ng.3226. Erratum in: Nat Genet. 2015 Jun;47(6):689.

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