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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process [PDF]
, 2014 Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of ...Springelkamp, H, Scott, WK, Sit, Arthur J., Wong, T.-Y, Janssen, Sarah, Rivadeneira Ramirez, F. (Fernando), Wiggs, J.L. (Janey), Pearson, Richard, Nag, Abhishek, Xu, L, Wang, Jie Jin, Viswanathan, Ananth C., Montgomery, G.W. (Grant), Amin, Najaf, Scott, R. (Rodney), Iglesias, Adriana I., Amin, N. (Najaf), Rautanen, A, Gray, E, Viswanathan, A.C. (Ananth), Koolwijk, Leonieke, Rochtchina, Elena, Mountain, Jenny E, Pasquale, L.R., Zack, DJ, MacGregor, S, Despriet, Dominiek D G, Hammond, C.J, Luo, X.Y., Ramdas, WD, Palmer, Colin N. A., Jayakumar, A, Edkins, Sarah, Waller, Matthew, Verhoeven, V.J.M. (Virginie), Van Leeuwen, EM, Hauser, Michael A., Hammond, Naomi, Wiggs, Janey L., Liu, Y, Lemij, H.G, Uitterlinden, André G, Pearson, R, Hysi, Pirro G., Kang, JH, Viswanathan, Ananth, Gibson, Jane, Su, Zhan, Thorleifsson, G. (Gudmar), Verhoeven, Virginie; id_orcid, Viswanathan, A.C., Springelkamp, Henriët., Zack, Donald J., Stefansson, K, Mountain, J.E, Donnelly, P, Tai, E.S., Sanfilippo, P.G, Lemij, H.G., Leeuwen, E.M. van, Wang, JJ, Uitterlinden, AG, Potter, Simon C., Hofman, A., Weston, P, Allingham, R. Rand, Cree, Angela J, Nongpiur, Monisha E, Springelkamp, H., Hysi, PG, Tai, ES, Fingert, John, Zhang, K, Schillert, A., Sanfilippo, PG, Friedman, David S., Bramon, E, Jonas, JB, Mirshahi, A., Pirinen, Matti, Rivadeneira, F, Hysi, P.G, Janssen, S.F, Menon, G, Baird, PN, Hellenthal, Garrett, Haines, J.L, Loon, Seng-Chee, Verhoeven, V.J.M., Jonasson, F., Jonsson, V. (Vesteinn), Mountain, Jenny E., Jonasson, Fridbert, Baird, P.N. (Paul), Sanfilippo, Paul Gerard, Ennis, S. (Sarah), Bumpstead, Suzannah J., Spector, Tim, Gaasterland, T, van Koolwijk, Leonieke ME, Cheng, Ching-Yu, Lu, Y., Christen, WG, Mackey, DA, De Jong, PTVM, Friedman, DS, Pfeiffer, Norbert, Cooke-Bailey, Jessica N, Haines, Jonathan L., Khor, CC, ?, ?, Hewitt, AW, Hysi, Pirro, Langford, C, Despriet, DDG, Budenz, Donald L., NEIGHBORHOOD Consortium, Zwart, J-A. (John-Anker), Landers, J, Duijn, Cornelia, Cooke Bailey, Jessica, Mackey, D.A. (David), Sim, Kar-Seng, Weinreb, Robert Neal, Gharahkhani, P, Loon, Seng Chee, Wood, N.W, Leeuwen, E.M. (Elisa) van, Blue Mt Eye Study GWAS Grp, Lee, RK, Allingham, R.R, Hewitt, A.W, Widaa, S, Attia, John, Freeman, Colin, Brown, M.A, Verhoeven, Virginie J M, Saw, SM, Loomis, Stephanie, Khor, Chiea Chuen, Venturini, Cristina, Zack, D.J, Spencer, Chris C. A., Mishra, Aniket, Janssen, S.F., Gray, Emma, Van Koolwijk, LME, Markus, H.S, Kang, J.H, Lotery, Andrew J., Kang, Jae Hee, Jansonius, N.M., Brown, MA, Wellcome Trust Case Control Consortium 2 (WTCCC2), Bailey, JNC, Pfeiffer, N, Bailey, J.N.C, Janssen, S.F. (Sarah), Sim, KS, Lu, Yi, Mountain, JE, Wiggs, J.L., other, and, Bailey, Jessica N. Cooke, Loomis, Stephanie J, Nongpiur, M.E. (Monisha E.), Aung, T. (Tin), Craig, J.E., Mishra, A, Koolwijk, L.M.E. (Leonieke) van, Wolfs, R.C.W., Wiggs, J.L, Jonas, J.B., Lotery, A.J. (Andrew), Holliday, Elizabeth G., Vingerling, Johannes R., Loomis, Stephanie J., van Koolwijk, Leonieke M. E., Hammond, Christopher J., Gibson, J., Bergen, A.A.B., Ricketts, M, Potter, S.C, Despriet, D.D.G. (Dominique), Kang, J.H. (Jae), Jansonius, Nomdo M.; id_orcid, Singh, K, Khor, Chiea-Chuen, Mishra, A. (Aniket), Lu, Y. (Yi), Verhoeven, VJM, Lichter, P.R, Blue Mountains Eye Study-GWAS groupw, Montgomery, G, Kang, J.H., Sim, K.S., Xie, J. (Jing), Brilliant, M.H, Wang, J.J. (Jie Jin), Gaasterland, Terry, Lee, Richard K., Edkins, S, Duijn, C.M. van, Luo, Xiaoyan, Scott, R, Pasquale, Louis, Fingert, J, Sit, A.J, Saw, S-M. (Seang-Mei), Uitterlinden, A.G. (André), Xu, L. (Liang), Realini, Anthony, van Leeuwen, Elisabeth M, Widaa, Sara, Burdon, Kathryn P, Xie, J, Haines, J.L., Klaver, C.C.W, Bergen, AAB, Wong, TY (Tien Yin), Klaver, Caroline C W, Viswanathan, Ananth C, Janssen, Sarah F, Weinreb, Robert N, Despriet, Dominiek, Loomis, SJ, Koolwijk, L.M.E. van, Ramdas, Wishal, Klaver, C.C.W. (Caroline), Karssen, Lennart, Verhoeven, Virginie J. M., Schuman, Joel S., Jonasson, F. (Fridbert), Dronov, S, Brilliant, MH, Aung, T, Karssen, Lennart C., Plomin, R, Uitterlinden, André G., Teo, Yik-Ying, Baird, Paul N., Hammond, C.J. (Christopher), Data and Analysis Group, Sim, Kar Seng, Casas, JP, Mathew, Christopher G., Mitchell, P. (Paul), Nag, A, Loomis, S.J. (Stephanie J.), Spencer, C.C.A, Bramon, Elvira, Plomin, Robert, Mackey, D.A., Thorsteinsdottir, U, Whittaker, P, Jonas, Jost B., van Duijn, Cornelia M., Burdon, K.P, Schillert, A, Band, Gavin, Nag, A. (Abhishek), Strange, A, Thorsteinsdottir, U. (Unnur), Vingerling, Hans, Bailey, Jessica N Cooke, Montgomery, GrantW., Menon, G. (Geeta), Wiggs, Janey, Casas, Juan P., Holliday, E.G, Deloukas, Panos, Khor, C.-C, Hauser, Michael A, Rochtchina, E. (Elena), Young, T.L. (Terri), Sim, X. (Xueling), Gharahkhani, P., Hammond, N, Brown, Matthew, Souzeau, Emmanuelle, Craig, J.E. (Jamie), Wang, J.J, Nongpiur, M.E., Hellenthal, G, Gaasterland, Douglas, Barroso, Ines, Craig, Jamie E., Oostra, B.A. (Ben), Sim, K.-S, Vollrath, Douglas, Wollstein, Gadi, Oostra, BA, Klaver, C.C.W., Band, G, Hofman, Albert, Palmer, CNA, Despriet, Dominiek D.G., Oostra, Ben A, Sanfilippo, P.G. (Paul G.), Lee, R.K, Viswanathan, AC, Höhn, R. (René), Christen, W.G, Wollstein, G, Schillert, Arne, Gharahkhani, Puya, Bergen, Arthur A. B., Pasquale, LR, Ramdas, W.D., Bergen, Arthur AB, Spector, T.D, Aung, Tin, Pfeiffer, N., Wiggs, Janey L, Xie, Jing, Leeuwen, Elisa, Spector, TD, Corvin, Aiden, Blue Mountains Eye Study—GWAS group, Iglesias, AI, Jonas, J.B. (Jost B.), Karssen, L.C. (Lennart), Lotery, A.J., Wolfs, Roger CW, Wiggs, JL, Baird, P.N, Pasquale, L.R, Young, TL, Ennis, S, Landers, John, Spector, Timothy D, Duijn, C.M. (Cornelia) van, Venturini, C., Cree, A.J, Teo, Yik Ying, Schillert, A. (Arne), Janssen, Sarah F., Pasquale, Louis R., Schuman, JS, Young, T.L, Young, Terri L, Jonsson, V., Lu, Y (Yi), Inouye, M. (Michael), Weinreb, RN, Sit, AJ, Wellcome Trust Case Control Consortium 2, Nag, A., Verhoeven, Virginie, Khor, C.C., Lichter, Paul R., Gharahkhani, P. (Puya), Despriet, Dominiek D. G., Pasquale, Louis R, Deloukas, P, Lotery, AJ, Despriet, D.D.G., Weinreb, R.N., Van Leeuwen, E.M, Nongpiur, Monisha E., Klaver, Caroline C. W., Sim, Xueling, Hysi, P.G., Casas, J.P, Publications Committee, Springelkamp, H. (Henriët), Menon, G., Liddle, Jennifer, Bergen, A.A.B. (Arthur), Whittaker, Pamela, Burdon, Kathryn Penelope, Lotery, A.J, Hammond, Christopher J, Sawcer, S.J, Saw, Seangmei, Despriet, D.D.G, Luo, X. (Xiaoyan), Hofman, Bert, Mishra, A., Vithana, E, Macgregor, Stuart, Lemij, HG, Wong, Tien-Yin, Corvin, A, Jonsson, Vesteinn, Souzeau, E. (Emmanuelle), Gillman, M, Burdon, K.P. (Kathryn), Jansonius, Nomdo M., Gwilliam, Rhian, Viswanathan, A.C, NEIGHBORHOOD Consortiumz, Wolfs, Roger C. W., Hauser, M.A., Wood, Nicholas W., Hauser, M.A, Young, Terri L., Cheng, C.Y., Ennis, S., Bellenguez, Céline, Luo, XY, Christen, William G., Karssen, Lennart C, Venturini, C. (Cristina), Gibson, J. (Jane), Loon, S.C., Van Koolwijk, L.M.E, Vithana, Eranga, Vollrath, D, Mountain, J.E., Jonasson, F, Budenz, DL, Wong, Tien Yin, Cooke Bailey, Jessica N., Uitterlinden, André, Ramdas, W.D, Kraft, P, Blackwell, Jenefer M., Moroi, Sayoko E., Teo, YY, Duncanson, A, Scott, W.K, Hewitt, A.W., Mitchell, Paul, Jansonius, N.M. (Nomdo), Verhoeven, Virginie J.M., Holliday, EG, Mackey, David A, Barroso (Deputy Chair), Ines, Rivadeneira, Fernando, Budenz, D.L, Bailey, J.N.C. (Jessica N. Cooke), Vingerling, J.R. (Hans), Cree, A.J. (Angela), Pfeiffer, A.F.H. (Andreas), Blackburn, Hannah, Höhn, René, Loon, S.-C. (Seng-Chee), Despriet, Dominiek DG, Ravindrarajah, Radhi, Lemij, H.G. (Hans), van Koolwijk, Leonieke M.E., Vukcevic, D, Springelkamp, Henriët, Mathew, C.G, Pericak-Vance, Margaret A., McCann, Owen T., Gwilliam, R, Sawcer, Stephen J., Haines, Jonathan L, Teo, Y.Y., Klaver, Caroline CW, Hohn, R., Loon, SC, Cree, A.J., Jansonius, Nomdo M, Strange, Amy, Friedman, D.S, Hauser, MA, Wolfs, R.C.W, Thorsteinsdottir, Unnur, Sim, X, Langford, Cordelia, Brilliant, Murray H., Pericak-Vance, M.A, Teo, Y.Y. (Yik Ying), Mackey, David A., Xu, L., Stefansson, K., Markus, HS, Weinreb, R.N. (Robert N.), Liddle, J, Spector, Timothy D., Vingerling, J.R, Macgregor, S., Verhoeven, Virginie JM, de Jong, Paulus T. V. M., Jonas, Jost B, Oostra, B.A, Jansonius, N.M, Ramdas, Wishal D, Wellcome Trust Case Control Consor, Pasquale, L.R. (Louis), Dronov, Serge, Wolfs, R.C.W. (Roger), Lotery, Andrew J, Cheng, CY (Ching-Yu), Richards, Julia E., Hysi, Pirro G, Ramdas, Wishal D., Thorleifsson, G, Cree, AJ, Hewitt, Alex W., McCann, O.T, de Jong, Paulus T V M, Iglesias, Adriana, Nongpiur, M.E, Burdon, K.P., Uitterlinden, André; id_orcid, Palmer, C.N.A, Blue Mountains Eye Study-GWAS Gp, Montgomery, Grant W, Montgomery, GW, Rivadeneira, F., Ramdas, W.D. (Wishal), Janssen, SF, Gibson, J, Waller, M, Mathew, CG, Iglesias, A.I., Cheng, C-Y. (Ching-Yu), Sanfilippo, P.G., Donnelly, Peter, Montgomery, G., Amin, N, Stefansson, Kari, Hysi, P.G. (Pirro), Hunt, S.E, DNA, Genotyping, Data QC and Informatics Group, Bergen, Arthur A B, Spector, T.D. (Timothy), Gillman, Matthew, Kraft, Peter, Wong, T.Y., Mirshahi, A, Attia, J, Pericak-Vance, MA, Trembath, Richard C., Saw, S.-M, Vingerling, J.R., Hofman, A. (Albert), Pirinen, M, Haines, JL, Realini, A, van Leeuwen, Elisabeth M., Richards, J.E, Jong, P.T.V.M. de, Montgomery, G.W, Hammond, C.J., Landers, J., Ravindrarajah, R, Cheng, C.-Y, Cree, Angela J., Vukcevic, Damjan, Kang, Jae H, Blackwell, JM, Viswanathan, A, Teo, Y.-Y, Gaasterland, D, Inouye, Michael, Inouye, M, Jonsson, V, Thorsteinsdottir, U., Hammond, CJ, Weinreb, Robert N., Su, Z, Zhang, Kang, Liu, Yutao, Moroi, S.E, Kang, Jae H., Vithana, E.N. (Eranga), Scott, William K., Weston, Paul, Karssen, LC, Schuman, J.S, Mitchell, P, Holliday, E.G. (Elizabeth), Jonas, J.B, Sanfilippo, Paul G, Thorleifsson, G., Hoehn, René, Saw, Seang-Mei, Uitterlinden, A.G., Lu, Y, Lemij, Hans G, De Jong, P.T.V.M, Rautanen, Anna, Rochtchina, E, Aung, T., Thorleifsson, Gudmar, Jankowski, Janusz, Freeman, C, Amin, N., Oostra, Ben A., Oostra, B.A., Vingerling, Johannes R, Montgomery, Grant W., Xu, Liang, Bailey, J.N.C., Barroso, I, Allingham, RR, Brown, Matthew A., Moroi, SE, Blackburn, H, Scott, Rodney, Burdon, Kathryn P., Hewitt, Alex W, Giannoulatou, E, Oostra, Ben, Bumpstead, S.J, Landers, J. (John), Tai, E.S. (Shyong), Karssen, L.C., Mirshahi, A. (Alireza), Jong, P.T.V.M. (Paulus) de, Donnelly (Chair), Peter, Vithana, E., Craig, JE, Hauser, M.A. (Michael), Spector, T.D., Burdon, KP, Young, T.L., MacKey, D.A, Ennis, Sarah, Giannoulatou, Eleni, Sanfilippo, Paul G., Van Duijn, C.M, Bergen, Arthur A B B, Hofman, A, Mirshahi, Alireza, Wolfs, Roger C W, Tai, E-Shyong, Souzeau, E, Duncanson, Audrey, de Jong, Paulus TVM, Markus, Hugh S., Loomis, S.J, Menon, Geeta, Jankowski, J, Craig, Jamie E, Attia, J. (John), Venturini, C, Bergen, A.A.B, Jansonius, NM (Nomdo), Mountain, J.E. (Jenny E.), Singh, Kuldev, Weinreb, R.N, Iglesias González, A.I. (Adriana), Verhoeven, V.J.M, Iglesias, A.I, Tai, E.-S, Loomis, S.J., MacGregor, S. (Stuart), Karssen, L.C, van Koolwijk, Leonieke M E, Blackwell, J.M, Klaver, Caroline, Höhn, R, Souzeau, E., Mathew (Chair), Christopher G., van Duijn, Cornelia M, Jayakumar, Alagurevathi, Richards, JE, Bellenguez, C, Nongpiur, ME, Lichter, PR, Luo, X, Ricketts, Michelle, Craig, J.E, Loon, S.-C, Lemij, Hans G., Hunt, Sarah E., Wong, T.Y. (Tien Yin), Uitterlinden, A.G, Iglesias, Adriana I, Hewit, A.W. (Alex), Trembath, R.C, Saw, S.M. +667 morecore +1 more sourceHigh‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish +11 morewiley +1 more sourceSeeking a practical definition of stable glaucoma: a Delphi consensus survey of UK glaucoma consultants
, 2020 © 2019, The Author(s), under exclusive licence to The Royal College of Ophthalmologists. Background: To generate a practical and clinically useful consensus definition of ‘stable glaucoma’ to aid provision of glaucoma services in the UK and to provide ...B. K. Lakhani, P. Leighton, Giannouladis, K., Lakhani, B. K., A. J. King, King, A. J., Leighton, P., K. Giannouladis +7 morecore +1 more sourceReview of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.Camille Viaut, Valerie Cormier‐Dairewiley +1 more sourceA cohort study of duplex Doppler examinations of the carotid artery in primary open angle glaucoma
, 2014 Objectives To explore the possibility of pathological change in the common carotid artery at the bifurcation and in the internal carotid artery beyond the bifurcation which could contribute to a reduced diastolic pressure as observed in primary open ...Aldoori, M. I., Marmion, Vincent J, Stephenson, John, Woodcock, J. P., Aldoori, Munther I, Woodcock, John P, Marmion, V. J. +6 morecore +1 more sourcePharmacogenetics of ophthalmic topical β-blockers [PDF]
, 2008 Glaucoma is the second leading cause of blindness worldwide. The primary glaucoma risk factor is elevated intraocular pressure. Topical β-blockers are affordable and widely used to lower intraocular pressure.Smith, Edward M., Wilke, Russell A., Sidjanin, Duska J., McCarty, Catherine A., Patchett, Richard +4 morecore +1 more source
