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

العلاقة: 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_09C3E6B613E5Test; urn:issn:2296-634X; https://serval.unil.ch/resource/serval:BIB_09C3E6B613E5.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_09C3E6B613E50Test

الإتاحة: https://doi.org/10.3389/fcell.2023.1112270Test
https://serval.unil.ch/notice/serval:BIB_09C3E6B613E5Test
https://serval.unil.ch/resource/serval:BIB_09C3E6B613E5.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_09C3E6B613E50Test

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

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10162976/1/s42003-022-04323-7.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10162976Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10162976/1/s42003-022-04323-7.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10162976Test/

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

العلاقة: 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.pdfTest; 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

الإتاحة: https://eprints.whiterose.ac.uk/196829Test/
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.pdfTest

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

العلاقة: http://hdl.handle.net/10397/92797Test; WOS:000522040300003; 2-s2.0-85086778879; 133; SO-0104

الإتاحة: https://doi.org/10.1038/s42003-020-0802-yTest
http://hdl.handle.net/10397/92797Test

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

العلاقة: 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.62.5.7Test.; http://hdl.handle.net/11343/304708Test

الإتاحة: https://doi.org/10.1167/iovs.62.5.7Test
http://hdl.handle.net/11343/304708Test

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

العلاقة: 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-yTest.; http://hdl.handle.net/11343/244275Test

الإتاحة: https://doi.org/10.1038/s42003-020-0802-yTest
http://hdl.handle.net/11343/244275Test

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

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10094357/1/AcceptedManuscript_Myopia.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10094357Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10094357/1/AcceptedManuscript_Myopia.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10094357Test/

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

العلاقة: 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.18-25965Test.; http://hdl.handle.net/11343/251032Test

الإتاحة: https://doi.org/10.1167/iovs.18-25965Test
http://hdl.handle.net/11343/251032Test

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

العلاقة: 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.0223942Test.; http://hdl.handle.net/11343/306203Test

الإتاحة: https://doi.org/10.1371/journal.pone.0223942Test
http://hdl.handle.net/11343/306203Test

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

العلاقة: 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.18-26231Test.; http://hdl.handle.net/11343/305944Test

الإتاحة: https://doi.org/10.1167/iovs.18-26231Test
http://hdl.handle.net/11343/305944Test