المؤلفون: Panneman, D.M., Hitti-Malin, R.J., Holtes, L.K., de Bruijn, S.E., Reurink, J., Boonen, EGM, Khan, M.I., Ali, M., Andréasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M., de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C.F., Karali, M., Kjellström, U., Koenekoop, R., de Koning, B., Leroy, B.P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K.M., Poulter, J.A., Rivolta, C., Rodríguez de la Rúa, E., Saunders, P., Simonelli, F., Tatour, Y., Testa, F., Thiadens, AAHJ, Toomes, C., Tracewska, A.M., Tran, H.V., Ushida, H., Vaclavik, V., Verhoeven, VJM, van de Vorst, M., Gilissen, C., Hoischen, A., Cremers, FPM, Roosing, S.

المصدر: Frontiers in cell and developmental biology, vol. 11, pp. 1112270

مصطلحات موضوعية: cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencing

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/36819107; info:eu-repo/semantics/altIdentifier/pissn/2296-634X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_09C3E6B613E50; https://serval.unil.ch/notice/serval:BIB_09C3E6B613E5; https://serval.unil.ch/resource/serval:BIB_09C3E6B613E5.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_09C3E6B613E5
https://doi.org/10.3389/fcell.2023.1112270
https://serval.unil.ch/resource/serval:BIB_09C3E6B613E5.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_09C3E6B613E50

المؤلفون: Musolf, AM, Haarman, AEG, Luben, RN, Ong, JS, Patasova, K, Trapero, RH, Marsh, J, Jain, I, Jain, R, Wang, PZ, Lewis, DD, Tedja, MS, Iglesias, AI, Li, H, Cowan, CS, Biino, G, Klein, AP, Duggal, P, Mackey, DA, Hayward, C, Haller, T, Metspalu, A, Wedenoja, J, Pärssinen, O, Cheng, CY, Saw, SM, Stambolian, D, Hysi, PG, Khawaja, AP, Vitart, V, Hammond, CJ, van Duijn, CM, Verhoeven, VJM, Klaver, CCW, Bailey-Wilson, JE

المصدر: Communications biology , 6 (1) , Article 6. (2023)

مصطلحات موضوعية: Humans, Genome-Wide Association Study, Genetic Predisposition to Disease, Refractive Errors, Myopia, White People

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10162976/1/s42003-022-04323-7.pdf; https://discovery.ucl.ac.uk/id/eprint/10162976/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10162976/1/s42003-022-04323-7.pdf
https://discovery.ucl.ac.uk/id/eprint/10162976/

المؤلفون: Panneman, DM, Hitti-Malin, RJ, Holtes, LK, de Bruijn, SE, Reurink, J, Boonen, EGM, Khan, MI, Ali, M, Andréasson, S, De Baere, E, Banfi, S, Bauwens, M, Ben-Yosef, T, Bocquet, B, De Bruyne, M, de la Cerda, B, Coppieters, F, Farinelli, P, Guignard, T, Inglehearn, CF, Karali, M, Kjellström, U, Koenekoop, R, de Koning, B, Leroy, BP, McKibbin, M, Meunier, I, Nikopoulos, K, Nishiguchi, KM, Poulter, JA, Rivolta, C, Rodríguez de la Rúa, E, Saunders, P, Simonelli, F, Tatour, Y, Testa, F, Thiadens, AAHJ, Toomes, C, Tracewska, AM, Tran, HV, Ushida, H, Vaclavik, V, Verhoeven, VJM, van de Vorst, M, Gilissen, C, Hoischen, A, Cremers, FPM, Roosing, S

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdf; Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2023) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Frontiers in Cell and Developmental Biology, 11. 1112270. ISSN 2296-634X

الاتاحة: https://eprints.whiterose.ac.uk/196829/
https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdf

المؤلفون: Fan, Q, Pozarickij, A, Tan, NYQ, Guo, X, Verhoeven, VJM, Vitart, V, Guggenheim, JA, Miyake, M, Tideman, JWL, Khawaja, AP, Zhang, L, MacGregor, S, Höhn, R, Chen, P, Biino, G, Wedenoja, J, Saffari, SE, Tedja, MS, Xie, J, Lanca, C, Wang, YX, Sahebjada, S, Mazur, J, Mirshahi, A, Martin, NG, Yazar, S, Pennell, CE, Yap, M, Haarman, AEG, Enthoven, CA, Polling, J, Consortium for Refractive Error and Myopia (CREAM), UK Biobank Eye and Vision Consortium, Hewitt, AW, Jaddoe, VWV, van Duijn, CM, Hayward, C, Polasek, O, Tai, ES, Yoshikatsu, H, Hysi, PG, Young, TL, Tsujikawa, A, Wang, JJ, Mitchell, P, Pfeiffer, N, Pärssinen, O, Foster, PJ, Fossarello, M, Yip, SP, Williams, C, Hammond, CJ, Jonas, JB, He, M, Mackey, DA, Wong, TY, Klaver, CCW, Saw, SM, Baird, PN, Cheng, CY

المساهمون: School of Optometry, Department of Health Technology and Informatics

Relation: http://hdl.handle.net/10397/92797; WOS:000522040300003; 133

الاتاحة: http://hdl.handle.net/10397/92797
https://doi.org/10.1038/s42003-020-0802-y

المؤلفون: Jong, M, Jonas, JB, Wolffsohn, JS, Berntsen, DA, Cho, P, Clarkson-Townsend, D, Flitcroft, DI, Gifford, KL, Haarman, AEG, Pardue, MT, Richdale, K, Sankaridurg, P, Tedja, MS, Wildsoet, CF, Bailey-Wilson, JE, Guggenheim, JA, Hammond, CJ, Kaprio, J, MacGregor, S, Mackey, DA, Musolf, AM, Klaver, CCW, Verhoeven, VJM, Vitart, V, Smith, EL

Relation: pii: 2772535; Jong, M., Jonas, J. B., Wolffsohn, J. S., Berntsen, D. A., Cho, P., Clarkson-Townsend, D., Flitcroft, D. I., Gifford, K. L., Haarman, A. E. G., Pardue, M. T., Richdale, K., Sankaridurg, P., Tedja, M. S., Wildsoet, C. F., Bailey-Wilson, J. E., Guggenheim, J. A., Hammond, C. J., Kaprio, J., MacGregor, S. ,. Smith, E. L. (2021). IMI 2021 Yearly Digest. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 62 (5), https://doi.org/10.1167/iovs.62.5.7.; http://hdl.handle.net/11343/304708

الاتاحة: http://hdl.handle.net/11343/304708

المؤلفون: Fan Q, Pozarickij A, Tan NYQ, Guo X, Verhoeven VJM, Vitart V, Guggenheim JA, Miyake M, Tideman JWL, Khawaja AP, Zhang L, MacGregor S, Hohn R, Chen P, Biino G, Wedenoja J, Saffari SE, Tedja MS, Xie J, Lanca C, Wang YX, Sahebjada S, Mazur J, Mirshahi A, Martin NG, Yazar S, Pennell CE, Yap M, Haarman AEG, Enthoven CA, Polling JR, Bailey-Wilson JE, Veluchamy AB, Burdon KP, Campbell H, Chen LJ, Chew EY, Craig JE, Cumberland PM, Deangelis MM, Delcourt C, Ding X, Evans DM, Gharahkhani P, Iglesias AI, Haller T, Han X, Hoang Q, Igo RP, Iyengar SK, Kahonen M, Kaprio J, Klein BE, Klein R, Lass JH, Lee K, Lehtimaki T, Lewis DD, Li Q, Li S-M, Lyytikainen L-P, Meguro A, Metspalu A, Middlebrooks CD, Mizuki N, Musolf AM, Nickels S, Oexle K, Pang CP, Paterson AD, Rahi JS, Raitakari O, Rudan I, Stambolian D, Simpson CL, Wang N, Bin Wei W, Williams KM, Wilson JF, Wojciechowski R, Yamashiro K, Yam JCS, Zhou X, Aslam T, Barman SA, Barrett JH, Bishop P, Blows P, Bunce C, Carare RO, Chakravarthy U, Chan M, Chua SYL, Crabb DP, Day A, Desai P, Dhillon B, Dick AD, Egan C, Ennis S, Fruttiger M, Gallacher JEJ, Garway-Heath DF, Gibson J, Gore D, Hardcastle A, Harding SP, Hogg RE, Keane PA, Khaw SPT, Lascaratos G, Lotery AJ, Macgillivray T, Mackie S, Martin K, McGaughey M, McGuinness B, McKay GJ, McKibbin M, Mitry D, Moore T, Morgan JE, Muthy ZA, O'Sullivan E, Owen CG, Patel P, Paterson E, Peto T, Petzold A, Rudnikca AR, Self J, Sivaprasad S, Steel D, Stratton I, Strouthidis N, Sudlow C, Thomas D, Trucco E, Tufail A, Vernon SA, Viswanathan AC, Williams K, Woodside JV, Yates MM, Yip J, Zheng Y, Hewitt AW, Jaddoe VWV, van Duijn CM, Hayward C, Polasek O, Tai E-S, Yoshikatsu H, Hysi PG, Young TL, Tsujikawa A, Wang JJ, Mitchell P, Pfeiffer N, Parssinen O, Foster PJ, Fossarello M, Yip SP, Williams C, Hammond CJ, Jonas JB, He M, Mackey DA, Wong T-Y, Klaver CCW, Saw S-M, Baird PN, Cheng C-Y

المصدر: Communications Biology, 1 December 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/267826; https://eprints.ncl.ac.uk/fulltext.aspx?url=267826/D0BB606D-66F5-4555-9605-E3B1D0D24143.pdf&pub_id=267826

الاتاحة: https://eprints.ncl.ac.uk/267826

المؤلفون: Fan, Q, Pozarickij, A, Tan, NYQ, Guo, X, Verhoeven, VJM, Vitart, V, Guggenheim, JA, Miyake, M, Tideman, JWL, Khawaja, AP, Zhang, L, MacGregor, S, Hoehn, R, Chen, P, Biino, G, Wedenoja, J, Saffari, SE, Tedja, MS, Xie, J, Lanca, C, Wang, YX, Sahebjada, S, Mazur, J, Mirshahi, A, Martin, NG, Yazar, S, Pennell, CE, Yap, M, Haarman, AEG, Enthoven, CA, Polling, J, Hewitt, AW, Jaddoe, VWV, van Duijn, CM, Hayward, C, Polasek, O, Tai, E-S, Yoshikatsu, H, Hysi, PG, Young, TL, Tsujikawa, A, Wang, JJ, Mitchell, P, Pfeiffer, N, Parssinen, O, Foster, PJ, Fossarello, M, Yip, SP, Williams, C, Hammond, CJ, Jonas, JB, He, M, Mackey, DA, Wong, T-Y, Klaver, CCW, Saw, S-M, Baird, PN, Cheng, C-Y

Relation: pii: 10.1038/s42003-020-0802-y; Fan, Q., Pozarickij, A., Tan, N. Y. Q., Guo, X., Verhoeven, V. J. M., Vitart, V., Guggenheim, J. A., Miyake, M., Tideman, J. W. L., Khawaja, A. P., Zhang, L., MacGregor, S., Hoehn, R., Chen, P., Biino, G., Wedenoja, J., Saffari, S. E., Tedja, M. S., Xie, J. ,. Cheng, C. -Y. (2020). Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. COMMUNICATIONS BIOLOGY, 3 (1), https://doi.org/10.1038/s42003-020-0802-y.; http://hdl.handle.net/11343/244275

الاتاحة: http://hdl.handle.net/11343/244275

المؤلفون: Hysi, PG, Choquet, H, Khawaja, AP, Wojciechowski, R, Tedja, MS, Yin, J, Simcoe, MJ, Patasova, K, Mahroo, OA, Thai, KK, Cumberland, PM, Melles, RB, Verhoeven, VJM, Vitart, V, Segre, A, Stone, RA, Wareham, N, Hewitt, AW, Mackey, DA, Klaver, CCW, MacGregor, S, Consortium for Refractive Error and Myopia, ., Khaw, PT, Foster, PJ, UK Eye and Vision Consortium, ., Guggenheim, JA, 23andMe Inc., ., Rahi, JS, Jorgenson, E, Hammond, CJ

المصدر: Nature Genetics , 52 pp. 401-407. (2020)

مصطلحات موضوعية: Diseases, Genetic association study, Genomics, Population genetics

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10094357/1/AcceptedManuscript_Myopia.pdf; https://discovery.ucl.ac.uk/id/eprint/10094357/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10094357/1/AcceptedManuscript_Myopia.pdf
https://discovery.ucl.ac.uk/id/eprint/10094357/

المؤلفون: Tedja, MS, Haarman, AEG, Meester-Smoor, MA, Kaprio, J, Mackey, DA, Guggenheim, JA, Hammond, CJ, Verhoeven, VJM, Klaver, CCW, Bailey-Wilson, JE, Baird, PN, Veluchamy, AB, Biino, G, Burdon, KP, Campbell, H, Chen, LJ, Cheng, C-Y, Chew, EY, Craig, JE, Cumberland, PM, Deangelis, MM, Delcourt, C, Ding, X, van Duijn, CM, Evans, DM, Fan, Q, Fossarello, M, Foster, PJ, Gharahkhani, P, Iglesias, AI, Guol, X, Haller, T, Han, X, Hayward, C, He, M, Hewitt, AW, Hoang, Q, Hysi, PG, Igo, RP, Iyengar, SK, Jonas, JB, Kahonen, M, Khawaja, AP, Klein, BE, Klein, R, Lass, JH, Lee, K, Lehtimaki, T, Lewis, D, Li, Q, Li, S-M, Lyytikainen, L-P, MacGregor, S, Martin, NG, Meguro, A, Metspalu, A, Middlebrooks, C, Miyake, M, Mizuki, N, Musolf, A, Nickels, S, Oexle, K, Pang, CP, Parssinen, O, Paterson, AD, Pfeiffer, N, Polasek, O, Rahi, JS, Raitakari, O, Rudan, I, Sahebjada, S, Saw, S-M, Stambolian, D, Simpson, CL, Tai, E-S, Tideman, JWL, Tsujikawa, A, Vitart, V, Wang, N, Wedenoja, J, Wei, WB, Williams, C, Williams, KM, Wilson, JF, Wojciechowski, R, Wang, YX, Yamashiro, K, Yam, JCS, Yap, MKH, Yazar, S, Yip, SP, Young, TL, Zhou, X

Relation: pii: 2727314; Tedja, M. S., Haarman, A. E. G., Meester-Smoor, M. A., Kaprio, J., Mackey, D. A., Guggenheim, J. A., Hammond, C. J., Verhoeven, V. J. M., Klaver, C. C. W., Bailey-Wilson, J. E., Baird, P. N., Veluchamy, A. B., Biino, G., Burdon, K. P., Campbell, H., Chen, L. J., Cheng, C. -Y., Chew, E. Y., Craig, J. E. ,. Zhou, X. (2019). IMI - Myopia Genetics Report. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 60 (3), pp.M89-M105. https://doi.org/10.1167/iovs.18-25965.; http://hdl.handle.net/11343/251032

الاتاحة: http://hdl.handle.net/11343/251032

المؤلفون: Wong, Y-L, Hysi, P, Cheung, G, Tedja, M, Hoang, QV, Tompson, SWJ, Whisenhunt, KN, Verhoeven, VJM, Zhao, W, Hess, M, Wong, C-W, Kifley, A, Hosoda, Y, Haarman, AEG, Hopf, S, Laspas, P, Sensaki, S, Sim, X, Miyake, M, Tsujikawa, A, Lamoureux, E, Ohno-Matsui, K, Nickels, S, Mitchell, P, Wong, T-Y, Wang, JJ, Hammond, CJ, Barathi, VA, Cheng, C-Y, Yamashiro, K, Young, TL, Klaver, CCW, Saw, S-M

Relation: pii: PONE-D-19-27714; Wong, Y. -L., Hysi, P., Cheung, G., Tedja, M., Hoang, Q. V., Tompson, S. W. J., Whisenhunt, K. N., Verhoeven, V. J. M., Zhao, W., Hess, M., Wong, C. -W., Kifley, A., Hosoda, Y., Haarman, A. E. G., Hopf, S., Laspas, P., Sensaki, S., Sim, X., Miyake, M. ,. Saw, S. -M. (2019). Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium (vol 14, e0220143, 2019). PLOS ONE, 14 (10), https://doi.org/10.1371/journal.pone.0223942.; http://hdl.handle.net/11343/306203

الاتاحة: http://hdl.handle.net/11343/306203

المؤلفون: Iglesias, AI, Ong, JS, Khawaja, AP, Gharahkhani, P, Tedja, MS, Verhoeven, VJM, Bonnemaijer, PWM, Wolfs, RCW, Young, TL, Jansonius, NM, Craig, JE, Stambolian, D, van Duijn, CM, MacGregor, S, Klaver, CCW

Relation: pii: 2739064; Iglesias, A. I., Ong, J. S., Khawaja, A. P., Gharahkhani, P., Tedja, M. S., Verhoeven, V. J. M., Bonnemaijer, P. W. M., Wolfs, R. C. W., Young, T. L., Jansonius, N. M., Craig, J. E., Stambolian, D., van Duijn, C. M., MacGregor, S. & Klaver, C. C. W. (2019). Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 60 (8), pp.3142-3149. https://doi.org/10.1167/iovs.18-26231.; http://hdl.handle.net/11343/305944

الاتاحة: http://hdl.handle.net/11343/305944

المؤلفون: Delcourt C, Le Goff M, von Hanno T, Mirshahi A, Khawaja AP, Verhoeven VJM, Hogg RE, Anastosopoulos E, Cachulo ML, Höhn R, Wolfram C, Bron A, Miotto S, Carrière I, Colijn JM, Buitendijk GHS, Evans J, Nitsch D, Founti P, Yip JLY, Pfeiffer N, Creuzot-Garcher C, Silva R, Piermarocchi S, Topouzis F, Bertelsen G, Foster PJ, Fletcher A, Klaver CCW, Korobelnik JF, European Eye Epidemiology Consortium. (Acar N, Azuara-Blanco A, Berendschot T, Bergen A, Binquet C, Bird A, Bobak M, Boon C, Brétillon L, Broe R, Buitendijk G, Capuano V, Chakravarthy U, Chan M, Chang P, Colijn J, Cougnard-Grégoire A, Cree A, Cumberland P, Cunha-Vaz J, Daien V, De Jong E, Deak G, Delyfer MN, den Hollander A, Dietzel M, Erke MG, Faria P, Farinha C, Fauser S, Finger R, Foster P, Gorgels T, Grauslund J, Grus F, Hammond C, Hansen M, Helmer C, Hense HW, Hermann M, Hoehn R, Hogg R, Holz F, Hoyng C, Jansonius N, Janssen S, Kersten E, Khawaja A, Klaver C, Lamparter J, Lechanteur Y, Lehtimäki T, Leung I, Lotery A, Mauschitz M, Meester M, Merle B, Meyer Zu Westrup V, Midena E, Mohan-Saïd S, Mueller M, Muldrew A, Murta J, Nickels S, Nunes S, Owen C, Peto T, Prokofyeva E, Rahi J, Raitakari O, Rauscher F, Ribeiro L, Rougier MB, Rudnicka A, Sahel J, Salonikiou A, Sanchez C, Schmitz-Valckenberg S, Schouten J, Schuster A, Schweitzer C, Segato T, Shehata J, Silvestri G, Simader C, Souied E, Speckauskas M, Springelkamp H, Tapp R, van Leeuwen E, Verhoeven V, Verzijden T, Von Hanno T, Vujosevic S, Wiedemann P, Williams K, Yip J, Zerbib J.)

المساهمون: C. Delcourt, M. Le Goff, T. von Hanno, A. Mirshahi, A. Khawaja, V. Verhoeven, R. Hogg, E. Anastosopoulo, M. Cachulo, R. Höhn, C. Wolfram, A. Bron, S. Miotto, I. Carrière, J. Colijn, G. Buitendijk, J. Evan, D. Nitsch, P. Founti, J. Yip, N. Pfeiffer, C. Creuzot-Garcher, R. Silva, S. Piermarocchi, F. Topouzi, G. Bertelsen, P. Foster, A. Fletcher, C. Klaver, J. Korobelnik, (.N. European Eye Epidemiology Consortium., A. Azuara-Blanco, T. Berendschot, A. Bergen, C. Binquet, A. Bird, M. Bobak, C. Boon, L. Brétillon, R. Broe, V. Capuano, U. Chakravarthy, M. Chan, P. Chang, A. Cougnard-Grégoire, A. Cree, P. Cumberland, J. Cunha-Vaz, V. Daien, E. De Jong, G. Deak, M. Delyfer, A. den Hollander, M. Dietzel, M. Erke, P. Faria, C. Farinha, S. Fauser, R. Finger, T. Gorgel, J. Grauslund, F. Gru, C. Hammond, M. Hansen, C. Helmer, H. Hense, M. Hermann, R. Hoehn, F. Holz, C. Hoyng, N. Jansoniu, S. Janssen, E. Kersten, J. Lamparter, Y. Lechanteur, T. Lehtimäki, I. Leung, A. Lotery, M. Mauschitz, M. Meester, B. Merle, V. Meyer Zu Westrup, E. Midena

مصطلحات موضوعية: Settore MED/30 - Malattie Apparato Visivo

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000439463900012; volume:125; issue:8; firstpage:1149; lastpage:1159; numberofpages:11; journal:OPHTHALMOLOGY; http://hdl.handle.net/2434/881246; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85043485622

الاتاحة: http://hdl.handle.net/2434/881246
https://doi.org/10.1016/j.ophtha.2018.02.005

المؤلفون: Shah, RL, Li, Q, Zhao, W, Tedja, MS, Tideman, JWL, Khawaja, AP, Fan, Q, Yazar, S, Williams, KM, Verhoeven, VJM, Xie, J, Wang, YX, Hess, M, Nickels, S, Lackner, KJ, Parssinen, O, Wedenoja, J, Biino, G, Concas, MP, Uitterlinden, A, Rivadeneira, F, Jaddoe, VWV, Hysi, PG, Sim, X, Tan, N, Tham, Y-C, Sensaki, S, Hofman, A, Vingerling, JR, Jonas, JB, Mitchell, P, Hammond, CJ, Hoehn, R, Baird, PN, Wong, T-Y, Cheng, C-Y, Teo, YY, Mackey, DA, Williams, C, Saw, S-M, Klaver, CCW, Guggenheim, JA, Bailey-Wilson, JE

Relation: NHMRC/1138585; Shah, R. L., Li, Q., Zhao, W., Tedja, M. S., Tideman, J. W. L., Khawaja, A. P., Fan, Q., Yazar, S., Williams, K. M., Verhoeven, V. J. M., Xie, J., Wang, Y. X., Hess, M., Nickels, S., Lackner, K. J., Parssinen, O., Wedenoja, J., Biino, G., Concas, M. P. ,. Bailey-Wilson, J. E. (2018). A genome-wide association study of corneal astigmatism: The CREAM Consortium. MOLECULAR VISION, 24, pp.127-142; http://hdl.handle.net/11343/327023

الاتاحة: http://hdl.handle.net/11343/327023

المؤلفون: Tedja, MS, Wojciechowski, R, Hysi, PG, Eriksson, N, Furlotte, NA, Verhoeven, VJM, Iglesias, AI, Meester-Smoor, MA, Tompson, SW, Fan, Q, Khawaja, AP, Cheng, C-Y, Höhn, R, Yamashiro, K, Wenocur, A, Grazal, C, Haller, T, Metspalu, A, Wedenoja, J, Jonas, JB, Wang, YX, Xie, J, Mitchell, P, Foster, PJ, Klein, BEK, Klein, R, Paterson, AD, Hosseini, SM, Shah, RL, Williams, C, Teo, YY, Tham, YC, Gupta, P, Zhao, W, Shi, Y, Saw, W-Y, Tai, E-S, Sim, XL, Huffman, JE, Polašek, O, Hayward, C, Bencic, G, Rudan, I, Wilson, JF, Consortium, Cream, Team, 23Andme Research, Consortium, Uk Biobank Eye And Vision, Joshi, PK, Tsujikawa, A, Matsuda, F, Whisenhunt, KN, Zeller, T, Van Der Spek, PJ, Haak, R, Meijers-Heijboer, H, Van Leeuwen, EM, Iyengar, SK, Lass, JH, Hofman, A, Rivadeneira, F, Uitterlinden, AG, Vingerling, JR, Lehtimäki, T, Raitakari, OT, Biino, G, Concas, MP, Schwantes-An, T-H, Igo, RP, Cuellar-Partida, G, Martin, NG, Craig, JE, Gharahkhani, P, Williams, KM, Nag, A, Rahi, JS, Cumberland, PM, Delcourt, C, Bellenguez, C, Ried, JS, Bergen, AA, Meitinger, T, Gieger, C, Wong, TY, Hewitt, AW, Mackey, DA, Simpson, CL, Pfeiffer, N, Pärssinen, O, Baird, PN, Vitart, V, Amin, N, Van Duijn, CM, Bailey-Wilson, JE, Young, TL, Saw, S-M, Stambolian, D, Macgregor, S, Guggenheim, JA, Tung, JY, Hammond, CJ, Klaver, CCW

Relation: https://ora.ox.ac.uk/objects/uuid:1b7bed67-172e-4066-a18b-8a4af318836b; https://doi.org/10.1038/s41588-018-0127-7

الاتاحة: https://doi.org/10.1038/s41588-018-0127-7
https://ora.ox.ac.uk/objects/uuid:1b7bed67-172e-4066-a18b-8a4af318836b

المؤلفون: Delcourt, C, Le Goff, M, von Hanno, T, Mirshahi, A, Khawaja, AP, Verhoeven, VJM, Hogg, RE, Anastosopoulos, E, Cachulo, ML, Höhn, R, Wolfram, C, Bron, A, Miotto, S, Carrière, I, Colijn, JM, Buitendijk, GHS, Evans, J, Nitsch, D, Founti, P, Yip, JLY, Pfeiffer, N, Creuzot-Garcher, C, Silva, R, Piermarocchi, S, Topouzis, F, Bertelsen, G, Foster, PJ, Fletcher, A, Klaver, CCW, Korobelnik, J-F, European Eye Epidemiology Consortium, .

المصدر: Ophthalmology , 125 (8) pp. 1149-1159. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10046103/1/E3-Vision-manuscript-Ophthalmology-accepted.pdf; https://discovery.ucl.ac.uk/id/eprint/10046103/6/E3-vision-SOM-accepted.pdf; https://discovery.ucl.ac.uk/id/eprint/10046103/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10046103/1/E3-Vision-manuscript-Ophthalmology-accepted.pdf
https://discovery.ucl.ac.uk/id/eprint/10046103/6/E3-vision-SOM-accepted.pdf
https://discovery.ucl.ac.uk/id/eprint/10046103/

المؤلفون: Fan, Q, Verhoeven, VJM, Wojciechowski, R, Barathi, VA, Hysi, PG, Guggenheim, JA, Hoehn, R, Vitart, V, Khawaja, AP, Yamashiro, K, Hosseini, SM, Lehtimaki, 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, T-H, Igo, RP, Mirshahi, A, Cougnard-Gregoire, A, Bellenguez, C, Blettner, M, Raitakari, O, Kaehoenen, 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, Boh, ET-H, Ikram, MK, Sabanayagam, C, Gupta, P, Tan, V, Zhou, L, Ho, CEH, Lim, W, Beuerman, RW, Siantar, R, Tai, E-S, Vithana, E, Mihailov, E, Khor, C-C, Hayward, C, Luben, RN, Foster, PJ, Klein, BEK, Klein, R, Wong, H-S, Mitchell, P, Metspalu, A, Aung, T, Young, TL, He, M, Paerssinen, O, van Duijn, CM, Wang, JJ, Williams, C, Jonas, JB, Teo, Y-Y, David, AMM, Oexle, K, Yoshimura, N, Paterson, AD, Pfeiffer, N, Wong, T-Y, Baird, PN, Stambolian, D, Bailey-Wilson, JE, Cheng, C-Y, Hammond, CJ, Klaver, CCW, Saw, S-M, Rahi, JS, Korobelnik, J-F, 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, K-T, Wareham, NJ, Rantanen, T, Kaprio, J, Pang, CP, Chen, LJ, Tam, PO, Jhanji, V, Young, AL, Doering, A, Raffel, LJ, Cotch, M-F, Li, X, Yip, SP, Yap, MKH, Biino, G, Vaccargiu, S, Fossarello, M, Fleck, B, Yazar, S, Tideman, JWL, Tedja, M, Deangelis, MM, Morrison, M, Farrer, L, Zhou, X, Chen, W, Mizuki, N, Meguro, A, Makela, KM

Relation: pii: ncomms11008; Fan, Q., Verhoeven, V. J. M., Wojciechowski, R., Barathi, V. A., Hysi, P. G., Guggenheim, J. A., Hoehn, R., Vitart, V., Khawaja, A. P., Yamashiro, K., Hosseini, S. M., Lehtimaki, T., Lu, Y., Haller, T., Xie, J., Delcourt, C., Pirastu, M., Wedenoja, J., Gharahkhani, P. ,. Makela, K. M. (2016). Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. NATURE COMMUNICATIONS, 7 (1), https://doi.org/10.1038/ncomms11008.; http://hdl.handle.net/11343/262274

الاتاحة: http://hdl.handle.net/11343/262274

المؤلفون: Fan, Q, Guo, X, Tideman, JWL, Williams, KM, Yazar, S, Hosseini, SM, Howe, LD, Pourcain, BS, Evans, DM, Timpson, NJ, McMahon, G, Ried, JS, Korobelnik, JF, Fondran, JR, Liao, J, Zhao, JH, Xie, J, Kemp, JP, Lass, JH, Rahi, JS, Wedenoja, J, Tam, PO, Mäkelä, KM, Burdon, KP, Khaw, KT, Yamashiro, K, Chen, LJ, Xu, L, Farrer, L, Ikram, MK, Deangelis, MM, Morrison, M, Foster, PJ, Schache, M, Pirastu, M, Miyake, M, Yap, MKH, Fossarello, M, Kähönen, M, Tedja, MS, Yoshimura, N, Martin, NG, Wareham, NJ, Mitchell, P, Mizuki, N, Raitakari, O, Polasek, O, Chen, P, Cumberland, P, Gharahkhani, P, Höhn, R, Fogarty, RD, Luben, RN, Igo, RP, Hysi, PG, Jr, Klein, R, Janmahasatian, S, Yip, SP, Feng, S, Vaccargiu, S, Panda-Jonas, S, MacGregor, S, Iyengar, SK, Rantanen, T, Krapohl, E, Lehtimäki, T, Meitinger, T, Aung, T, Haller, T, Vitart, V, Nangia, V, Verhoeven, VJM, Jhanji, V, Zhao, W, Chen, W, Wang, YX, Zhou, X, Lu, Y, Vatavuk, Z, Jonas, JB, Baird, PN, Wang, JJ, Cheng, CY, Teo, YY, Wong, TY, Ding, X, Wojciechowski, R, Young, TL, Pärssinen, O, Oexle, K, Pfeiffer, N, Bailey-Wilson, JE, Paterson, AD, Klaver, CCW, Plomin, R, Hammond, CJ, He, M, Saw, SM, Guggenheim, JA, Meguro, A, Wright, AF, Hewitt, AW, Young, AL, Veluchamy, AB, Metspalu, A, Döring, A, Khawaja, AP, Klein, BE, St, Pourcain, B, Fleck, B, Hayward, C, Williams, C, Delcourt, C, Pang, CP, Khor, CC, Gieger, C, Simpson, CL, Van, Duijn, CM, Mackey, DA, Stambolian, D, Chew, E, Tai, ES, Mihailov, E, Smith, GD, Biino, G, Campbell, H, Rudan, I, Seppälä, I, Kaprio, J, Wilson, JF, Craig, JE, BaileyWilson, JE, St Pourcain, B, Van Duijn, CM, PandaJonas, S

المساهمون: School of Optometry

Relation: http://hdl.handle.net/10397/62230; 2-s2.0-84985997831; OA_IR/PIRA

الاتاحة: http://hdl.handle.net/10397/62230
https://doi.org/10.1038/srep25853

المؤلفون: Li, Q, Wojciechowski, R, Simpson, CL, Hysi, PG, Verhoeven, VJM, Ikram, MK, Hoehn, R, Vitart, V, Hewitt, AW, Oexle, K, Makela, K-M, MacGregor, S, Pirastu, M, Fan, Q, Cheng, C-Y, St Pourcain, B, McMahon, G, Kemp, JP, Northstone, K, Rahi, JS, Cumberland, PM, Martin, NG, Sanfilippo, PG, Lu, Y, Wang, YX, Hayward, C, Polasek, O, Campbell, H, Bencic, G, Wright, AF, Wedenoja, J, Zeller, T, Schillert, A, Mirshahi, A, Lackner, K, Yip, SP, Yap, MKH, 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, Y-Y, Tai, ES, Vithana, E, Barathi, V, Zheng, Y, Siantar, RG, Neelam, K, Shin, Y, Lam, J, Yonova-Doing, E, Venturini, C, Hosseini, SM, Wong, H-S, Lehtimaki, T, Kahonen, M, Raitakari, O, Timpson, NJ, Evans, DM, Khor, C-C, Aung, T, Young, TL, Mitchell, P, Klein, B, van Duijn, CM, Meitinger, T, Jonas, JB, Baird, PN, Mackey, DA, Wong, TY, Saw, S-M, Parssinen, O, Stambolian, D, Hammond, CJ, Klaver, CCW, Williams, C, Paterson, AD, Bailey-Wilson, JE, Guggenheim, JA

Relation: Li, Q., Wojciechowski, R., Simpson, C. L., Hysi, P. G., Verhoeven, V. J. M., Ikram, M. K., Hoehn, R., Vitart, V., Hewitt, A. W., Oexle, K., Makela, K. -M., MacGregor, S., Pirastu, M., Fan, Q., Cheng, C. -Y., St Pourcain, B., McMahon, G., Kemp, J. P., Northstone, K. ,. Guggenheim, J. A. (2015). Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. HUMAN GENETICS, 134 (2), pp.131-146. https://doi.org/10.1007/s00439-014-1500-y.; http://hdl.handle.net/11343/269002

الاتاحة: http://hdl.handle.net/11343/269002

المؤلفون: Panneman, DM, Hitti-Malin, RJ, Holtes, LK, de Bruijn, SE, Reurink, J, Boonen, EGM, Khan, MI, Ali, M, Andréasson, S, De Baere, E, Banfi, S, Bauwens, M, Ben-Yosef, T, Bocquet, B, De Bruyne, M, de la Cerda, B, Coppieters, F, Farinelli, P, Guignard, T, Inglehearn, CF, Karali, M, Kjellström, U, Koenekoop, R, de Koning, B, Leroy, BP, McKibbin, M, Meunier, I, Nikopoulos, K, Nishiguchi, KM, Poulter, JA, Rivolta, C, Rodríguez de la Rúa, E, Saunders, P, Simonelli, F, Tatour, Y, Testa, F, Thiadens, AAHJ, Toomes, C, Tracewska, AM, Viet Tran, H, Ushida, H, Vaclavik, V, Verhoeven, VJM, van de Vorst, M, Gilissen, C, Hoischen, A, Cremers, FPM, Roosing, S

Relation: Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2022) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. [Preprint - Cold Spring Harbor Laboratory]

الاتاحة: https://eprints.whiterose.ac.uk/197565/
https://doi.org/10.1101/2022.11.24.22282656

المؤلفون: Springelkamp, H, Hoehn, R, Mishra, A, Hysi, PG, Khor, C-C, Loomis, SJ, Bailey, JNC, Gibson, J, Thorleifsson, G, Janssen, SF, Luo, X, Ramdas, WD, Vithana, E, Nongpiur, ME, Montgomery, G, Xu, L, Mountain, JE, Gharahkhani, P, Lu, Y, Amin, N, Karssen, LC, Sim, K-S, van Leeuwen, EM, Iglesias, AI, Verhoeven, VJM, Hauser, MA, Loon, S-C, Despriet, DDG, Nag, A, Venturini, C, Sanfilippo, PG, Schillert, A, Kang, JH, Landers, J, Jonasson, F, Cree, AJ, van Koolwijk, LME, Rivadeneira, F, Souzeau, E, Jonsson, V, Menon, G, Weinreb, RN, de Jong, PTVM, Oostra, BA, Uitterlinden, AG, Hofman, A, Ennis, S, Thorsteinsdottir, U, Burdon, KP, Spector, TD, Mirshahi, A, Saw, S-M, Vingerling, JR, Teo, Y-Y, Haines, JL, Wolfs, RCW, Lemij, HG, Tai, E-S, Jansonius, NM, Jonas, JB, Cheng, C-Y, Aung, T, Viswanathan, AC, Klaver, CCW, Craig, JE, Macgregor, S, Mackey, DA, Lotery, AJ, Stefansson, K, Bergen, AAB, Young, TL, Wiggs, JL, Pfeiffer, N, Wong, T-Y, Pasquale, LR, Hewitt, AW, van Duijn, CM, Hammond, CJ

Relation: pii: ncomms5883; Springelkamp, H., Hoehn, R., Mishra, A., Hysi, P. G., Khor, C. -C., Loomis, S. J., Bailey, J. N. C., Gibson, J., Thorleifsson, G., Janssen, S. F., Luo, X., Ramdas, W. D., Vithana, E., Nongpiur, M. E., Montgomery, G., Xu, L., Mountain, J. E., Gharahkhani, P., Lu, Y. ,. Hammond, C. J. (2014). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. NATURE COMMUNICATIONS, 5 (1), https://doi.org/10.1038/ncomms5883.; http://hdl.handle.net/11343/263636

الاتاحة: http://hdl.handle.net/11343/263636