Foo Jia Nee

Article

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

Li, J., Lindström, L. S., Foo, J. N., Rafiq, S., Schmidt, M. K., Pharoah, P. D. P., Michailidou, K., Dennis, J., Bolla, M. K., Wang, Q., Van'T Veer, L. J., Cornelissen, S., Rutgers, E., Southey, M. C., Apicella, C., Dite, G. S., Hopper, J. L., Fasching, P. A., Haeberle, L. & Ekici, A. B. & 83 others, Beckmann, M. W., Blomqvist, C., Muranen, T. A., Aittomäki, K., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V. M., Hartikainen, J. M., Kataja, V., Chenevix-Trench, G., Investigators, K., Phillips, K. A., McLachlan, S. A., Lambrechts, D., Thienpont, B., Smeets, A., Wildiers, H., Chang-Claude, J., Flesch-Janys, D., Seibold, P., Rudolph, A., Giles, G. G., Baglietto, L., Severi, G., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Kristensen, V., Alnæs, G. I. G., Borresen-Dale, A. L., Nord, S., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I. L., Knight, J. A., 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, H. U., Rüdiger, T., Shen, C. Y., Hsiung, C. N., Wu, P. E., Chen, S. T., Teo, S. H., Taib, N. A. M., Har Yip, C., Fuang Ho, G., Matsuo, K., Ito, H., Iwata, H., Tajima, K., Kang, D., Choi, J. Y., Park, S. K., Yoo, K. Y., Maishman, T., Tapper, W. J., Dunning, A., Shah, M., Luben, R., Brown, J., Chuen Khor, C., Eccles, D. M., Nevanlinna, H., Easton, D., Humphreys, K., Liu, J., Hall, P. & Czene, K., Jun 17 2014, In: Nature Communications. 5, 4051.

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16 Citations (Scopus)

A 3D Fiber-Hydrogel Based Non-Viral Gene Delivery Platform Reveals that microRNAs Promote Axon Regeneration and Enhance Functional Recovery Following Spinal Cord Injury

Zhang, N., Lin, J., Lin, V. P. H., Milbreta, U., Chin, J. S., Chew, E. G. Y., Lian, M. M., Foo, J. N., Zhang, K., Wu, W. & Chew, S. Y., Aug 4 2021, In: Advanced Science. 8, 15, 2100805.

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62 Citations (Scopus)

Absence of A673T amyloid-β precursor protein variant in alzheimer's disease and other neurological diseases

Ting, S. K. S., Chong, M. S., Kandiah, N., Hameed, S., Tan, L., Au, W. L., Prakash, K. M., Pavanni, R., Lee, T. S., Foo, J. N., Bei, J. X., Yu, X. Q., Liu, J. J., Zhao, Y., Lee, W. L. & Tan, E. K., Oct 2013, In: Neurobiology of Aging. 34, 10, p. 2441.e7-2441.e8

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24 Citations (Scopus)

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

Aung, T., Ozaki, M., Mizoguchi, T., Allingham, R. R., Li, Z., Haripriya, A., Nakano, S., Uebe, S., Harder, J. M., Chan, A. S. Y., Lee, M. C., Burdon, K. P., Astakhov, Y. S., Abu-Amero, K. K., Zenteno, J. C., Nilgün, Y., Zarnowski, T., Pakravan, M., Safieh, L. A. & Jia, L. & 141 others, Wang, Y. X., Williams, S., Paoli, D., Schlottmann, P. G., Huang, L., Sim, K. S., Foo, J. N., Nakano, M., Ikeda, Y., Kumar, R. S., Ueno, M., Manabe, S. I., 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, S. Y., Osman, E. A., Al-Obeidan, S. A., Owaidhah, O., Al-Jasim, L., Shahwan, S. A., Fogarty, R. A., Leo, P., Yetkin, Y., Ouz, Ç., Kanavi, M. R., Beni, A. N., Yazdani, S., Akopov, E. L., Toh, K. Y., Howell, G. R., Orr, A. C., Goh, Y., Meah, W. Y., Peh, S. Q., Kosior-Jarecka, E., Lukasik, U., Krumbiegel, M., Vithana, E. N., Wong, T. Y., Liu, Y., Koch, A. E. A., Challa, P., Rautenbach, R. M., Mackey, D. A., Hewitt, A. W., Mitchell, P., Wang, J. J., Ziskind, A., Carmichael, T., Ramakrishnan, R., Narendran, K., Venkatesh, R., Vijayan, S., Zhao, P., Chen, X., Guadarrama-Vallejo, D., Cheng, C. Y., Perera, S. A., Husain, R., Ho, S. L., Welge-Luessen, U. C., Mardin, C., Schloetzer-Schrehardt, U., Hillmer, A. M., Herms, S., Moebus, S., Nöthen, M. M., Weisschuh, N., Shetty, R., Ghosh, A., Teo, Y. Y., Brown, M. A., Lischinsky, I., Crowston, J. G., Coote, M., Zhao, B., Sang, J., Zhang, N., You, Q., Vysochinskaya, V., Founti, P., Chatzikyriakidou, A., Lambropoulos, A., Anastasopoulos, E., Coleman, A. L., Wilson, M. R., Rhee, D. J., Kang, J. H., May-Bolchakova, I., Heegaard, S., Mori, K., Alward, W. L. M., Jonas, J. B., Xu, L., Liebmann, J. M., Chowbay, B., Schaeffeler, E., Schwab, M., Lerner, F., Wang, N., Yang, Z., Frezzotti, P., Kinoshita, S., Fingert, J. H., Inatani, M., Tashiro, K., Reis, A., Edward, D. P., Pasquale, L. R., Kubota, T., Wiggs, J. L., Pasutto, F., Topouzis, F., Dubina, M., Craig, J. E., Yoshimura, N., Sundaresan, P., John, S. W. M., Ritch, R., Hauser, M. A. & Khor, C. C., Apr 28 2015, In: Nature Genetics. 47, 4, p. 387-392 6 p.

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104 Citations (Scopus)

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

Li, Z., Allingham, R. R., Nakano, M., Jia, L., Chen, Y., Ikeda, Y., Mani, B., Chen, L. J., Kee, C., Garway-Heath, D. F., Sripriya, S., Fuse, N., Abu-Amero, K. K., Huang, C., Namburi, P., Burdon, K., Perera, S. A., Gharahkhani, P., Lin, Y. & Ueno, M. & 91 others, Ozaki, M., Mizoguchi, T., Krishnadas, S. R., Osman, E. A., Lee, M. C., Chan, A. S. Y., Tajudin, L. S. A., Do, T., Goncalves, A., Reynier, P., Zhang, H., Bourne, R., Goh, D., Broadway, D., Husain, R., Negi, A. K., Su, D. H., Ho, C. L., Blanco, A. A., Leung, C. K. S., Wong, T. T., Yakub, A., Liu, Y., Nongpiur, M. E., Han, J. C., Hon, D. N., Shantha, B., Zhao, B., Sang, J., Zhang, N. H., Sato, R., Yoshii, K., Panda-Jonas, S., Ashley Koch, A. E., Herndon, L. W., Moroi, S. E., Challa, P., Foo, J. N., Bei, J. X., Zeng, Y. X., Simmons, C. P., Bich Chau, T. N., Sharmila, P. F., Chew, M., Lim, B., Tam, P. O. S., Chua, E., Ng, X. Y., Yong, V. H. K., Chong, Y. F., Meah, W. Y., Vijayan, S., Seongsoo, S., Xu, W., Teo, Y. Y., Cooke Bailey, J. N., Kang, J. H., Haines, J. L., Cheng, C. Y., Saw, S. M., Tai, E. S., Richards, J. E., Ritch, R., Gaasterland, D. E., Pasquale, L. R., Liu, J., Jonas, J. B., Milea, D., George, R., Al-Obeidan, S. A., Mori, K., Macgregor, S., Hewitt, A. W., Girkin, C. A., Zhang, M., Sundaresan, P., Vijaya, L., Mackey, D. A., Wong, T. Y., Craig, J. E., Sun, X., Kinoshita, S., Wiggs, J. L., Khor, C. C., Yang, Z., Pang, C. P., Wang, N., Hauser, M. A., Tashiro, K., Aung, T. & Vithana, E. N., Jul 1 2015, In: Human Molecular Genetics. 24, 13, p. 3880-3892 13 p.

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96 Citations (Scopus)

A comprehensive association analysis of homocysteine metabolic pathway genes in singaporean Chinese with ischemic stroke

Low, H. Q., Chen, C. P. L. H., Kasiman, K., Thalamuthu, A., Ng, S. S., Foo, J. N., Chang, H. M., Wong, M. C., Tai, E. S. & Liu, J., Sept 15 2011, In: PLoS One. 6, 9, e24757.

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25 Citations (Scopus)

A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival

Baecklund, F., Foo, J. N., Bracci, P., Darabi, H., Karlsson, R., Hjalgrim, H., Rosenquist, R., Adami, H. O., Glimelius, B., Melbye, M., Conde, L., Liu, J., Humphreys, K., Skibola, C. F. & Smedby, K. E., Oct 8 2014, In: BMC Medical Genetics. 15, 1, 113.

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16 Citations (Scopus)

A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy

Yu, X. Q., Li, M., Zhang, H., Low, H. Q., Wei, X., Wang, J. Q., Sun, L. D., Sim, K. S., Li, Y., Foo, J. N., Wang, W., Li, Z. J., Yin, X. Y., Tang, X. Q., Fan, L., Chen, J., Li, R. S., Wan, J. X., Liu, Z. S. & Lou, T. Q. & 5 others, Zhu, L., Huang, X. J., Zhang, X. J., Liu, Z. H. & Liu, J. J., Feb 2012, In: Nature Genetics. 44, 2, p. 178-182 5 p.

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258 Citations (Scopus)

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

Seco, C. Z., Castells-Nobau, A., Joo, S. H., Schraders, M., Foo, J. N., Van Der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., De Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjarg, L., Van Wijk, E., Scheffer-De Gooyert, J. M., Siddique, S. & Baets, J. & 10 others, De Jonghe, P., Kazmi, S. A. R., Sadananthan, S. A., Van De Warrenburg, B. P., Khor, C. C., Göpfert, M. C., Qamar, R., Schenck, A., Kremer, H. & Siddiqi, S., Feb 1 2017, In: DMM Disease Models and Mechanisms. 10, 2, p. 105-118 14 p.

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20 Citations (Scopus)

A meta-analysis of genome-wide association studies of follicular lymphoma

Skibola, C. F., Conde, L., Foo, J. N., Riby, J., Humphreys, K., Sillé, F. C. M., Darabi, H., Sanchez, S., Hjalgrim, H., Liu, J., Bracci, P. M. & Smedby, K. E., Oct 1 2012, In: BMC Genomics. 13, 1, 516.

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19 Citations (Scopus)

Analysis of EIF4G1 in Parkinson's disease among Asians

Zhao, Y., Ho, P., Prakash, K. M., Foo, J. N., Liu, J. J., Au, W. L., Tan, L. C. & Tan, E. K., Apr 2013, In: Neurobiology of Aging. 34, 4, p. 1311.e5-1311.e6

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8 Citations (Scopus)

Analysis of non-synonymous-coding variants of parkinson's disease-related pathogenic and susceptibility genes in East Asian populations

Foo, J. N., Tan, L. C., Liany, H., Koh, T. H., Irwan, I. D., Ng, Y. Y., Ahmad-Annuar, A., Au, W. L., Aung, T., Chan, A. Y. Y., Chong, S. A., Chung, S. J., Jung, Y., Khor, C. C., Kim, J., Lee, J., Lim, S. Y., Mok, V., Prakash, K. M. & Song, K. & 5 others, Tai, E. S., Vithana, E. N., Wong, T. Y., Tan, E. K. & Liu, J., Jul 2014, In: Human Molecular Genetics. 23, 14, p. 3891-3897 7 p., ddu086.

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27 Citations (Scopus)

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

Cui, Q., Feng, Q. S., Mo, H. Y., Sun, J., Xia, Y. F., Zhang, H., Foo, J. N., Guo, Y. M., Chen, L. Z., Li, M., Liu, W. S., Xu, M., Zhou, G., He, F., Yu, X., Jia, W. H., Liu, J., Zeng, Y. X. & Bei, J. X., Aug 15 2016, In: Human Molecular Genetics. 25, 16, p. 3626-3634 9 p.

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43 Citations (Scopus)

A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family

Kausar, M., Chew, E. G. Y., Ullah, H., Anees, M., Khor, C. C., Foo, J. N., Makitie, O. & Siddiqi, S., 2019, In: Frontiers in Genetics. 10, MAR, 144.

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12 Citations (Scopus)

A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias

Siddiqi, S., Foo, J. N., Vu, A., Azim, S., Silver, D. L., Mansoor, A., Tay, S. K. H., Abbasi, S., Hashmi, A. H., Janjua, J., Khalid, S., Tai, E. S., Yeo, G. W. & Khor, C. C., Dec 4 2014, In: PLoS One. 9, 12, e113258.

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19 Citations (Scopus)

Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease

Petersen, K. F., Dufour, S., Hariri, A., Nelson-Williams, C., Foo, J. N., Zhang, X. M., Dziura, J., Lifton, R. P. & Shulman, G. I., Mar 25 2010, In: New England Journal of Medicine. 362, 12, p. 1082-1089 8 p.

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364 Citations (Scopus)

A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

Foo, J. N., Liany, H., Bei, J. X., Yu, X. Q., Liu, J., Au, W. L., Prakash, K. M., Tan, L. C. & Tan, E. K., Dec 2013, In: Neurobiology of Aging. 34, 12, p. 2890.e13-2890.e15

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76 Citations (Scopus)

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

Sadia, Foo, J. N., Khor, C. C., Jelani, M. & Ali, G., Sept 1 2019, In: Journal of Gene Medicine. 21, 9, e3113.

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2 Citations (Scopus)

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

Wong, X. F. C. C., Denil, S. L. I. J., Foo, J. N., Chen, H., Tay, A. S. L., Haines, R. L., Tang, M. B. Y., McLean, W. H. I., Sandilands, A., Smith, F. J. D., Lane, E. B., Liu, J. & Common, J. E. A., Feb 2018, In: Journal of Allergy and Clinical Immunology. 141, 2, p. 814-816 3 p.

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40 Citations (Scopus)

Association between telomere length and risk of cancer and non-neoplastic diseases a mendelian randomization study

Telomeres Mendelian Randomization Collaboration, May 1 2017, In: JAMA Oncology. 3, 5, p. 636-651 16 p.

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407 Citations (Scopus)

Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye

Li, Z., Wang, Z., Lee, M. C., Zenkel, M., Peh, E., Ozaki, M., Topouzis, F., Nakano, S., Chan, A., Chen, S., Williams, S. E. I., Orr, A., Nakano, M., Kobakhidze, N., Zarnowski, T., Popa-Cherecheanu, A., Mizoguchi, T., Manabe, S. I., Hayashi, K. & Kazama, S. & 98 others, Inoue, K., Mori, Y., Miyata, K., Sugiyama, K., Higashide, T., Chihara, E., Ideta, R., Ishiko, S., Yoshida, A., Tokumo, K., Kiuchi, Y., Ohashi, T., Sakurai, T., Sugimoto, T., Chuman, H., Aihara, M., Inatani, M., Mori, K., Ikeda, Y., Ueno, M., Gaston, D., Rafuse, P., Shuba, L., Saunders, J., Nicolela, M., Chichua, G., Tabagari, S., Founti, P., Sim, K. S., Meah, W. Y., Soo, H. M., Chen, X. Y., Chatzikyriakidou, A., Keskini, C., Pappas, T., Anastasopoulos, E., Lambropoulos, A., Panagiotou, E. S., Mikropoulos, D. G., Kosior-Jarecka, E., Cheong, A., Li, Y., Lukasik, U., Nongpiur, M. E., Husain, R., Perera, S. A., Álvarez, L., García, M., González-Iglesias, H., Cueto, A. F. V., Cueto, L. F. V., Martinón-Torres, F., Salas, A., Oguz, Ç., Tamcelik, N., Atalay, E., Batu, B., Irkec, M., Aktas, D., Kasim, B., Astakhov, Y. S., Astakhov, S. Y., Akopov, E. L., Giessl, A., Mardin, C., Hellerbrand, C., Cooke Bailey, J. N., Igo, R. P., Haines, J. L., Edward, D. P., Heegaard, S., Davila, S., Tan, P., Kang, J. H., Pasquale, L. R., Kruse, F. E., Reis, A., Carmichael, T. R., Hauser, M., Ramsay, M., Mossböck, G., Yildirim, N., Tashiro, K., Konstas, A. G. P., Coca-Prados, M., Foo, J. N., Kinoshita, S., Sotozono, C., Kubota, T., Dubina, M., Ritch, R., Wiggs, J. L., Pasutto, F., Schlötzer-Schrehardt, U., Ho, Y. S., Aung, T., Tam, W. L. & Khor, C. C., Feb 23 2021, In: JAMA - Journal of the American Medical Association. 325, 8, p. 753-764 12 p.

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21 Citations (Scopus)

Association of single nucleotide polymorphism rs6903956 on chromosome 6p24.1 with coronary artery disease and lipid levels in different ethnic groups of the Singaporean population

Tayebi, N., Ke, T., Foo, J. N., Friedlander, Y., Liu, J. & Heng, C. K., Jun 2013, In: Clinical Biochemistry. 46, 9, p. 755-759 5 p.

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24 Citations (Scopus)

A synonymous variant in IL10RA affects RNA splicing in paediatric patients with refractory inflammatory bowel disease

Oh, S. H., Baek, J., Liany, H., Foo, J. N., Kim, K. M., Yang, S. C. O., Liu, J. & Song, K., Nov 2016, In: Journal of Crohn's and Colitis. 10, 11, p. 1366-1371 6 p.

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27 Citations (Scopus)

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Kausar, M., Ain, N. U., Hayat, F., Fatima, H., Azim, S., Ullah, H., Mushtaq, M., Khalid, S., Hussain, S., Naz, S., Janjua, J., Amjad, S. B., Baig, R. M., Makitie, O., Qamar, R., Ikegawa, S., Gen, N., Khor, C. C., Foo, J. N. & Siddiqi, S., Dec 2022, In: BMC Musculoskeletal Disorders. 23, 1, 818.

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6 Citations (Scopus)

Biallelic variants in four genes underlying recessive osteogenesis imperfecta

Hayat, A., Hussain, S., Bilal, M., Kausar, M., Almuzzaini, B., Abbas, S., Tanveer, A., Khan, A., Siddiqi, S., Foo, J. N., Ahmad, F., Khan, F., Khan, B., Anees, M., Mäkitie, O., Alfadhel, M., Ahmad, W. & Umair, M., Aug 2020, In: European Journal of Medical Genetics. 63, 8, 103954.

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27 Citations (Scopus)

C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort

Tan, Y. J., Yong, A. C. W., Foo, J. N., Lian, M. M., Lim, W. K., Dominguez, J., Fong, Z. H., Narasimhalu, K., Chiew, H. J., Ng, K. P., Ting, S. K. S., Kandiah, N. & Ng, A. S. L., Apr 2023, In: Annals of Clinical and Translational Neurology. 10, 4, p. 568-578 11 p.

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7 Citations (Scopus)

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

Ravindran, E., Ullah, N., Mani, S., Chew, E. G. Y., Tandiono, M., Foo, J. N., Khor, C. C., Kaindl, A. M. & Siddiqi, S., Oct 20 2022, In: Frontiers in Neurology. 13, 1017654.

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2 Citations (Scopus)

Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations

Tan, L. C. S., Methawasin, K., Teng, E. W. L., Ng, A. R. J., Seah, S. H., Au, W. L., Liu, J. J., Foo, J. N., Zhao, Y. & Tan, E. K., Apr 2014, In: European Journal of Neurology. 21, 4, p. 674-678 5 p.

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32 Citations (Scopus)

Coding variants at hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk

Foo, J. N., Smedby, K. E., Akers, N. K., Berglund, M., Irwan, I. D., Jia, X., Li, Y., Conde, L., Darabi, H., Bracci, P. M., Melbye, M., Adami, H. O., Glimelius, B., Khor, C. C., Hjalgrim, H., Padyukov, L., Humphreys, K., Enblad, G., Skibola, C. F. & De Bakker, P. I. W. & 1 others, Liu, J., Jul 11 2013, In: American Journal of Human Genetics. 93, 1, p. 167-172 6 p.

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26 Citations (Scopus)

Combined linkage and family-based association analysis improves candidate gene detection in Genetic Analysis Workshop 18 simulation data

Li, Y., Foo, J. N., Liany, H., Low, H. Q. & Liu, J., Jun 17 2014, In: BMC Proceedings. 8, S29.

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2 Citations (Scopus)

Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population

Wang, Y., Fu, W., Xie, F., Wang, Y., Chu, X., Wang, H., Shen, M., Wang, Y., Wang, Y., Sun, W., Lei, R., Yang, L., Wu, H., Foo, J., Liu, J., Jin, L. & Huang, W., Aug 2010, In: Journal of Human Genetics. 55, 8, p. 490-494 5 p.

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24 Citations (Scopus)

Deep whole-genome sequencing of 100 southeast Asian malays

Wong, L. P., Ong, R. T. H., Poh, W. T., Liu, X., Chen, P., Li, R., Lam, K. K. Y., Pillai, N. E., Sim, K. S., Xu, H., Sim, N. L., Teo, S. M., Foo, J. N., Tan, L. W. L., Lim, Y., Koo, S. H., Gan, L. S. H., Cheng, C. Y., Wee, S. & Yap, E. P. H. & 10 others, Ng, P. C., Lim, W. Y., Soong, R., Wenk, M. R., Aung, T., Wong, T. Y., Khor, C. C., Little, P., Chia, K. S. & Teo, Y. Y., Jan 10 2013, In: American Journal of Human Genetics. 92, 1, p. 52-66 15 p.

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140 Citations (Scopus)

Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

Towns, C., Richer, M., Jasaityte, S., Stafford, E. J., Joubert, J., Antar, T., Martinez-Carrasco, A., Makarious, M. B., Casey, B., Vitale, D., Levine, K., Leonard, H., Pantazis, C. B., Screven, L. A., Hernandez, D. G., Wegel, C. E., Solle, J., Nalls, M. A., Blauwendraat, C. & Singleton, A. B. & 224 others, Tan, M. M. X., Iwaki, H., Morris, H. R., Gatto, E. M., Kauffman, M., Khachatryan, S., Tavadyan, Z., Shepherd, C. E., Hunter, J., Kumar, K., Ellis, M., Rentería, M. E., Koks, S., Zimprich, A., Schumacher-Schuh, A. F., Rieder, C., Awad, P. S., Tumas, V., Camargos, S., Fon, E. A., Monchi, O., Fon, T., Galleguillos, B. P., Miranda, M., Bustamante, M. L., Olguin, P., Chana, P., Tang, B., Shang, H., Guo, J., Chan, P., Luo, W., Arboleda, G., Orozco, J., del Rio, M. J., Hernandez, A., Salama, M., Kamel, W. A., Zewde, Y. Z., Brice, A., Corvol, J. C., Westenberger, A., Illarionova, A., Mollenhauer, B., Klein, C., Vollstedt, E. J., Hopfner, F., Höglinger, G., Madoev, H., Trinh, J., Junker, J., Lohmann, K., Lange, L. M., Sharma, M., Groppa, S., Gasser, T., Fang, Z. H., Akpalu, A., Xiromerisiou, G., Hadjigorgiou, G., Dagklis, I., Tarnanas, I., Stefanis, L., Stamelou, M., Dadiotis, E., Medina, A., Chan, G. H. F., Ip, N., Cheung, N. Y. F., Chan, P., Zhou, X., Kishore, A., Kp, D., Pal, P., Kukkle, P. L., Rajan, R., Borgohain, R., Salari, M., Quattrone, A., Valente, E. M., Parnetti, L., Avenali, M., Schirinzi, T., Funayama, M., Hattori, N., Shiraishi, T., Karimova, A., Kaishibayeva, G., Shambetova, C., Krüger, R., Tan, A. H., Ahmad-Annuar, A., Norlinah, M. I., Murad, N. A. A., Azmin, S., Lim, S. Y., Mohamed, W., Tay, Y. W., Martinez-Ramirez, D., Rodriguez-Violante, M., Reyes-Pérez, P., Tserensodnom, B., Ojha, R., Anderson, T. J., Pitcher, T. L., Sanyaolu, A., Okubadejo, N., Ojo, O., Aasly, J. O., Pihlstrøm, L., Tan, M., Ur-Rehman, S., Cornejo-Olivas, M., Doquenia, M. L., Rosales, R., Vinuela, A., Iakovenko, E., Mubarak, B. A., Umair, M., Tan, E. K., Foo, J. N., Amod, F., Carr, J., Bardien, S., Jeon, B., Kim, Y. J., Cubo, E., Alvarez, I., Hoenicka, J., Beyer, K., Periñan, M. T., Pastor, P., El-Sadig, S., Zweier, C., Krack, P., Lin, C. H., Wu, H. C., Kung, P. J., Wu, R. M., Wu, Y., Amouri, R., Sassi, S. B., Başak, A. N., Genc, G., Çakmak, Ö. Ö., Ertan, S., Noyce, A., Schrag, A., Schapira, A., Carroll, C., Bale, C., Grosset, D., Houlden, H., Hardy, J., Mok, K. Y., Rizig, M., Wood, N., Williams, N., Okunoye, O., Lewis, P. A., Kaiyrzhanov, R., Weil, R., Love, S., Stott, S., Jasaitye, S., Dey, S., Obese, V., Espay, A., O’Grady, A., Sobering, A. K., Siddiqi, B., Fiske, B., Jonas, C., Cruchaga, C., Comart, C., Wegel, C., Hall, D., Hernandez, D., Shiamim, E., Riley, E., Faghri, F., Serrano, G. E., Chen, H., Mata, I. F., Sarmiento, I. J. K., Williamson, J., Kim, J. J., Jankovic, J., Shulman, J., Solle, J. C., Murphy, K., Nuytemans, K., Kieburtz, K., Markopoulou, K., Marek, K., Levine, K. S., Chahine, L. M., Ibanez, L., Screven, L., Ruffrage, L., Shulman, L., Marsili, L., Kuhl, M., Dean, M., Koretsky, M., Puckelwartz, M. J., Inca-Martinez, M., Louie, N., Mencacci, N. E., Albin, R., Alcalay, R., Walker, R., Bandres-Ciga, S., Chowdhury, S., Dumanis, S., Lubbe, S., Xie, T., Foroud, T., Beach, T., Sherer, T., Song, Y., Nguyen, D., Nguyen, T. & Atadzhanov, M., Dec 2023, In: npj Parkinson's Disease. 9, 1, 131.

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12 Citations (Scopus)

Destabilization of β Cell FIT2 by saturated fatty acids alter lipid droplet numbers and contribute to ER stress and diabetes

Zheng, X., Ho, Q. W. C., Chua, M., Stelmashenko, O., Yeo, X. Y., Muralidharan, S., Torta, F., Chew, E. G. Y., Lian, M. M., Foo, J. N., Jung, S., Wong, S. H., Tan, N. S., Tong, N., Rutter, G. A., Wenk, M. R., Silver, D. L., Berggren, P. O. & Ali, Y., Mar 15 2022, In: Proceedings of the National Academy of Sciences of the United States of America. 119, 11, e2113074119.

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28 Citations (Scopus)

DNAJ mutations are rare in Chinese Parkinson's disease patients and controls

Foo, J. N., Liany, H., Tan, L. C., Au, W. L., Prakash, K. M., Liu, J. & Tan, E. K., Apr 2014, In: Neurobiology of Aging. 35, 4, p. 935.e1-935.e2

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21 Citations (Scopus)

Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels

Murray, A., Gough, G., Cindrić, A., Vučković, F., Koschut, D., Borelli, V., Petrović, D. J., Bekavac, A., Plećaš, A., Hribljan, V., Brunmeir, R., Jurić, J., Pučić-Baković, M., Slana, A., Deriš, H., Frkatović, A., Groet, J., O'Brien, N. L., Chen, H. Y. & Yeap, Y. J. & 25 others, Delom, F., Havlicek, S., Gammon, L., Hamburg, S., Startin, C., D'Souza, H., Mitrečić, D., Kero, M., Odak, L., Krušlin, B., Krsnik, Ž., Kostović, I., Foo, J. N., Loh, Y. H., Dunn, N. R., de la Luna, S., Spector, T., Barišić, I., Thomas, M. S. C., Strydom, A., Franceschi, C., Lauc, G., Krištić, J., Alić, I. & Nižetić, D., Aug 2023, In: EBioMedicine. 94, 104692.

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10 Citations (Scopus)

ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis

Chourabi, M., Liew, M. S., Lim, S., H'mida-Ben Brahim, D., Boussofara, L., Dai, L., Wong, P. M., Foo, J. N., Sriha, B., Robinson, K. S., Denil, S., Common, J. E., Mamaï, O., Ben Khalifa, Y., Bollen, M., Liu, J., Denguezli, M., Bonnard, C., Saad, A. & Reversade, B., Feb 2018, In: Journal of Investigative Dermatology. 138, 2, p. 291-300 10 p.

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27 Citations (Scopus)

Evaluation of novel Parkinson's disease candidate genes in the Chinese population

Chew, E. G. Y., Liany, H., Tan, L. C. S., Au, W. L., Prakash, K. M., Annuar, A. A., Chan, A. Y. Y., Lim, S. Y., Mok, V., Chung, S. J., Song, K., Liu, J., Foo, J. N. & Tan, E. K., Feb 2019, In: Neurobiology of Aging. 74, p. 235.e1-235.e4

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5 Citations (Scopus)

Expanding the DARS phenotype: Late-adult onset myelopathy and leukoencephalopathy

Tan, A. H., Ng, A. S. L., Ramli, N. M., Lim, W. K., Cheah, P. L., Teo, J. X., Kuan, J. L., Tan, Y. J., Lim, J. L., Chew, E. G. Y., Foo, J. N., Goh, K. J., Tan, E. K. & Lim, S. Y., 2023, In: Neurology Asia. 28, 1, p. 185-189 5 p.

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Gene–Environment Interactions in Face Categorization: Oxytocin Receptor Genotype x Childcare Experience Shortens Reaction Time

Neoh, M. J. Y., Setoh, P., Bizzego, A., Tandiono, M., Foo, J. N., Lee, A., Bornstein, M. H. & Esposito, G., Jun 9 2022, In: Frontiers in Psychology. 13, 873676.

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3 Citations (Scopus)

Generation of Human PSC-Derived Kidney Organoids with Patterned Nephron Segments and a De Novo Vascular Network

Low, J. H., Li, P., Chew, E. G. Y., Zhou, B., Suzuki, K., Zhang, T., Lian, M. M., Liu, M., Aizawa, E., Rodriguez Esteban, C., Yong, K. S. M., Chen, Q., Campistol, J. M., Fang, M., Khor, C. C., Foo, J. N., Izpisua Belmonte, J. C. & Xia, Y., Sept 5 2019, In: Cell Stem Cell. 25, 3, p. 373-387.e9

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251 Citations (Scopus)

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

Aung, T., Ozaki, M., Lee, M. C., Schlötzer-Schrehardt, U., Thorleifsson, G., Mizoguchi, T., Igo, R. P., Haripriya, A., Williams, S. E., Astakhov, Y. S., Orr, A. C., Burdon, K. P., Nakano, S., Mori, K., Abu-Amero, K., Hauser, M., Li, Z., Prakadeeswari, G., Bailey, J. N. C. & Cherecheanu, A. P. & 269 others, Kang, J. H., Nelson, S., Hayashi, K., Manabe, S. I., Kazama, S., Zarnowski, T., Inoue, K., Irkec, M., Coca-Prados, M., Sugiyama, K., Järvelä, I., Schlottmann, P., Lerner, S. F., Lamari, H., Nilgün, Y., Bikbov, M., Park, K. H., Cha, S. C., Yamashiro, K., Zenteno, J. C., Jonas, J. B., Kumar, R. S., Perera, S. A., Chan, A. S. Y., Kobakhidze, N., George, R., Vijaya, L., Do, T., Edward, D. P., De Juan Marcos, L., Pakravan, M., Moghimi, S., Ideta, R., Bach-Holm, D., Kappelgaard, P., Wirostko, B., Thomas, S., Gaston, D., Bedard, K., Greer, W. L., Yang, Z., Chen, X., Huang, L., Sang, J., Jia, H., Jia, L., Qiao, C., Zhang, H., Liu, X., Zhao, B., Wang, Y. X., Xu, L., Leruez, S., Reynier, P., Chichua, G., Tabagari, S., Uebe, S., Zenkel, M., Berner, D., Mossböck, G., Weisschuh, N., Hoja, U., Welge-Luessen, U. C., 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, M. R., Beni, A. N., 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, J. W., Sagong, M., Park, K. H., Ahn, J., Cruz-Aguilar, M., Ezzouhairi, S. M., Rafei, A., Chong, Y. F., Ng, X. Y., Goh, S. R., Chen, Y., Yong, V. H. K., Khan, M. I., Olawoye, O. O., Ashaye, A. O., Ugbede, I., Onakoya, A., Kizor-Akaraiwe, N., Teekhasaenee, C., Suwan, Y., Supakontanasan, W., Okeke, S., Uche, N. J., Asimadu, I., Ayub, H., Akhtar, F., Kosior-Jarecka, E., Lukasik, U., Lischinsky, I., Castro, V., Grossmann, R. P., Megevand, G. S., Roy, S., Dervan, E., Silke, E., Rao, A., Sahay, P., Fornero, P., Cuello, O., Sivori, D., Zompa, T., Mills, R. A., Souzeau, E., Mitchell, P., Wang, J. J., Hewitt, A. W., Coote, M., Crowston, J. G., Astakhov, S. Y., Akopov, E. L., Emelyanov, A., Vysochinskaya, V., Kazakbaeva, G., Fayzrakhmanov, R., Al-Obeidan, S. A., Owaidhah, O., Aljasim, L. A., Chowbay, B., Foo, J. N., Soh, R. Q., Sim, K. S., Xie, Z., Cheong, A. W. O., Mok, S. Q., Soo, H. M., Chen, X. Y., Peh, S. Q., Heng, K. K., Husain, R., Ho, S. L., Hillmer, A. M., Cheng, C. Y., Escudero-Domínguez, F. A., González-Sarmiento, R., Martinon-Torres, F., Salas, A., Pathanapitoon, K., Hansapinyo, L., Wanichwecharugruang, B., Kitnarong, N., Sakuntabhai, A., Nguyn, H. X., Nguyn, G. T. T., Nguyn, T. V., Zenz, W., Binder, A., Klobassa, D. S., Hibberd, M. L., Davila, S., Herms, S., Nöthen, M. M., Moebus, S., Rautenbach, R. M., Ziskind, A., Carmichael, T. R., Ramsay, M., Álvarez, L., García, M., González-Iglesias, H., Rodríguez-Calvo, P. P., Cueto, L. F. V., Oguz, Ç., Tamcelik, N., Atalay, E., Batu, B., Aktas, D., Kaslm, B., Wilson, M. R., Coleman, A. L., Liu, Y., Challa, P., Herndon, L., Kuchtey, R. W., Kuchtey, J., Curtin, K., Chaya, C. J., Crandall, A., Zangwill, L. M., Wong, T. Y., Nakano, M., Kinoshita, S., Den Hollander, A. I., Vesti, E., Fingert, J. H., Lee, R. K., Sit, A. J., Shingleton, B. J., Wang, N., Cusi, D., Qamar, R., Kraft, P., Pericak-Vance, M. A., Raychaudhuri, S., Heegaard, S., Kivelä, T., Reis, A., Kruse, F. E., Weinreb, R. N., Pasquale, L. R., Haines, J. L., Thorsteinsdottir, U., Jonasson, F., Allingham, R. R., Milea, D., Ritch, R., Kubota, T., Tashiro, K., Vithana, E. N., Micheal, S., Topouzis, F., Craig, J. E., Dubina, M., Sundaresan, P., Stefansson, K., Wiggs, J. L., Pasutto, F. & Khor, C. C., Jul 1 2017, In: Nature Genetics. 49, 7, p. 993-1004 12 p.

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118 Citations (Scopus)

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

Li, Z., Xia, Y., Feng, L. N., Chen, J. R., Li, H. M., Cui, J., Cai, Q. Q., Sim, K. S., Nairismägi, M. L., Laurensia, Y., Meah, W. Y., Liu, W. S., Guo, Y. M., Chen, L. Z., Feng, Q. S., Pang, C. P., Chen, L. J., Chew, S. H., Ebstein, R. P. & Foo, J. N. & 26 others, Liu, J., Ha, J., Khoo, L. P., Chin, S. T., Zeng, Y. X., Aung, T., Chowbay, B., Diong, C. P., Zhang, F., Liu, Y. H., Tang, T., Tao, M., Quek, R., Mohamad, F., Tan, S. Y., Teh, B. T., Ng, S. B., Chng, W. J., Ong, C. K., Okada, Y., Raychaudhuri, S., Lim, S. T., Tan, W., Peng, R. J., Khor, C. C. & Bei, J. X., Sept 1 2016, In: The Lancet Oncology. 17, 9, p. 1240-1247 8 p.

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79 Citations (Scopus)

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

International NKTCL Working Group, Feb 2020, In: The Lancet Oncology. 21, 2, p. 306-316 11 p.

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56 Citations (Scopus)

Genetic susceptibility of diffuse large B-cell lymphoma: a meta genome-wide association study in Asian population: LYMPHOMA

Cui, Q., Tan, W., Song, B., Peng, R. J., Wang, L., Dorajoo, R., Ng, K. P., Lin, G. W., Au, W. Y., Liang, R. H. S., Khor, C. C., Zhang, Q. L., FOO, J. N., Li, S. P., Zhang, F. R., Zhang, X. J., Yu, X. Q., Lan, Q., Chanock, S. & Jia, W. H. & 7 others, Lim, S. T., Li, W. Y., Rothman, N., Bei, J. X., Liu, J., Lin, D. & Liu, J. J., 2024, (Accepted/In press) In: Leukemia. 1826.

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Genetic variants in ER cofactor genes and endometrial cancer risk

Li, Y., Low, H. Q., Foo, J. N., Darabi, H., Einarsdöttir, K., Humphreys, K., Spurdle, A., Easton, D. F., Thompson, D. J., Dunning, A. M., Pharoah, P. D. P., Czene, K., Chia, K. S., Hall, P. & Liu, J., Aug 2 2012, In: PLoS One. 7, 8, e42445.

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5 Citations (Scopus)

Genome-Wide Analysis of Protein-Coding Variants in Leprosy

Liu, H., Wang, Z., Li, Y., Yu, G., Fu, X., Wang, C., Liu, W., Yu, Y., Bao, F., Irwanto, A., Liu, J., Chu, T., Andiappan, A. K., Maurer-Stroh, S., Limviphuvadh, V., Wang, H., Mi, Z., Sun, Y., Sun, L. & Wang, L. & 30 others, Wang, C., You, J., Li, J., Foo, J. N., Liany, H., Meah, W. Y., Niu, G., Yue, Z., Zhao, Q., Wang, N., Yu, M., Yu, W., Cheng, X., Khor, C. C., Sim, K. S., Aung, T., Wang, N., Wang, D., Shi, L., Ning, Y., Zheng, Z., Yang, R., Li, J., Yang, J., Yan, L., Shen, J., Zhang, G., Chen, S., Liu, J. & Zhang, F., Dec 2017, In: Journal of Investigative Dermatology. 137, 12, p. 2544-2551 8 p.

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39 Citations (Scopus)

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Lu, Y., Vitart, V., Burdon, K. P., Khor, C. C., Bykhovskaya, Y., Mirshahi, A., Hewitt, A. W., Koehn, D., Hysi, P. G., Ramdas, W. D., Zeller, T., Vithana, E. N., Cornes, B. K., Tay, W. T., Tai, E. S., Cheng, C. Y., Liu, J., Foo, J. N., Saw, S. M. & Thorleifsson, G. & 70 others, Stefansson, K., Dimasi, D. P., Mills, R. A., Mountain, J., Ang, W., Hoehn, R., Verhoeven, V. J. M., Grus, F., Wolfs, R., Castagne, R., Lackner, K. J., Springelkamp, H., Yang, J., Jonasson, F., Leung, D. Y. L., Chen, L. J., Tham, C. C. Y., Rudan, I., Vatavuk, Z., Hayward, C., Gibson, J., Cree, A. J., MacLeod, A., Ennis, S., Polasek, O., Campbell, H., Wilson, J. F., Viswanathan, A. C., Fleck, B., Li, X., Siscovick, D., Taylor, K. D., Rotter, J. I., Yazar, S., Ulmer, M., Li, J., Yaspan, B. L., Ozel, A. B., Richards, J. E., Moroi, S. E., Haines, J. L., Kang, J. H., Pasquale, L. R., Allingham, R. R., Ashley-Koch, A., Mitchell, P., Wang, J. J., Wright, A. F., Pennell, C., Spector, T. D., Young, T. L., Klaver, C. C. W., Martin, N. G., Montgomery, G. W., Anderson, M. G., Aung, T., Willoughby, C. E., Wiggs, J. L., Pang, C. P., Thorsteinsdottir, U., Lotery, A. J., Hammond, C. J., Van Duijn, C. M., Hauser, M. A., Rabinowitz, Y. S., Pfeiffer, N., MacKey, D. A., Craig, J. E., MacGregor, S. & Wong, T. Y., Feb 1 2013, In: Nature Genetics. 45, 2, p. 155-163 9 p.

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245 Citations (Scopus)

Genome-Wide Association Analysis of Protein-Coding Variants in IgA Nephropathy

Li, M., Wang, Y. N., Wang, L., Meah, W. Y., Shi, D. C., Heng, K. K., Wang, L., Khor, C. C., Bei, J. X., Cheng, C. Y., Aung, T., Liao, Y. H., Chen, Q. K., Gu, J. R., Kong, Y. Z., Lee, J., Chong, S. A., Subramaniam, M., Foo, J. N. & Cai, F. T. & 16 others, Jiang, G. R., Xu, G., Wan, J. X., Chen, M. H., Yin, P. R., Dong, X. Q., Feng, S. Z., Tang, X. Q., Zhong, Z., Tan, E. K., Chen, N., Zhang, H., Liu, Z. H., Tai, E. S., Liu, J. J. & Yu, X. Q., Nov 1 2023, In: Journal of the American Society of Nephrology : JASN. 34, 11, p. 1900-1913 14 p.

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8 Citations (Scopus)

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae

Lowe, J. K., Maller, J. B., Pe'er, I., Neale, B. M., Salit, J., Kenny, E. E., Shea, J. L., Burkhardt, R., Smith, J. G., Ji, W., Noel, M., Jia, N. F., Blundell, M. L., Skilling, V., Garcia, L., Sullivan, M. L., Lee, H. E., Labek, A., Ferdowsian, H. & Auerbach, S. B. & 7 others, Lifton, R. P., Newton-Cheh, C., Breslow, J. L., Stoffel, M., Daly, M. J., Altshuler, D. M. & Friedman, J. M., Feb 2009, In: PLoS Genetics. 5, 2, e1000365.

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75 Citations (Scopus)

Foo Jia Nee

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