New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders von Holt, R., Ceroni, F., Bax, D. A., Broadgate, S., Diaz, D. Gold, Santos, C., Gerrelli, D., Ragge, N. K.

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Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders von Holt, R., Ugur Iseri, S. A., Wyatt, A. W., Bax, D. A., Gold Diaz, D., Santos, C., Broadgate, S., Dunn, R., Bruty, J., Wallis, Y., McMullan, D., Ogilvie, C., Gerrelli, D., Zhang, Y., Ragge, Nicola

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FGFR3 regulates brain size by controlling progenitor cell proliferation and apoptosis during embryonic development von Inglis-Broadgate, Suzanne L., Thomson, Rachel E., Pellicano, Francesca, Tartaglia, Michael A., Pontikis, Charlie C., Cooper, Jonathan D., Iwata, Tomoko

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Isolation and characterization of murine Cds ( CDP-diacylglycerol synthase) 1 and 2 von Inglis-Broadgate, Suzanne L., Ocaka, Louise, Banerjee, Ruby, Gaasenbeek, Michelle, Chapple, J. Paul, Cheetham, Michael E., Clark, Brian J., Hunt, David M., Halford, Stephanie

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Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen von Taylor, Rachel L., Poulter, James A., Downes, Susan M., McKibbin, Martin, Khan, Kamron N., Inglehearn, Chris F., Webster, Andrew R., Hardcastle, Alison J., Michaelides, Michel, Bishop, Paul N., Clark, Simon J., Black, Graeme C., Black, Graeme, Hall, Georgina, Ingram, Stuart, Taylor, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Webster, Andrew, Hardcastle, Alison, Michaelides, Michel, Plagnol, Vincent, Pontikos, Nikolas, Cheetham, Michael, Arno, Gavin, Fiorentino, Alessia, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Smith, Claire, Khan, Kamron, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, van Heyningen, Veronica

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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene von Yahya, Samar, Smith, Claire E.L., Poulter, James A., McKibbin, Martin, Arno, Gavin, Ellingford, Jamie, Kämpjärvi, Kati, Khan, Muhammad I., Cremers, Frans P.M., Hardcastle, Alison J., Castle, Bruce, Steel, David H.W., Webster, Andrew R., Black, Graeme C., El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F., Ingram, Stuart, Taylor, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Pontikos, Nikolas, Cheetham, Michael, Fiorentino, Alessia, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, van Heyningen, Veronica, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M.

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Phenotypic and genetic characteristics in a cohort of patients with Usher genes von Feenstra, H.M., Al-Khuzaei, S., Shah, M., Broadgate, S., Shanks, M., Kamath, A., Yu, J., Jolly, J.K., MacLaren, R.E., Clouston, P., Halford, S., Downes, S.M.

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Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS von Cundy, O, Broadgate, S, Halford, S, MacLaren, RE, Shanks, ME, Clouston, P, Gilhooley, MJ, Downes, SM

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New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders von Holt, R, Ceroni, F, Bax, DA, Broadgate, S, Diaz, DG, Santos, C, Gerrelli, D, Ragge, NK

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Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa von Fiorentino, A, Yu, J, Arno, G, Pontikos, N, Halford, S, Broadgate, S, Michaelides, M, Carss, KJ, Raymond, FL, Cheetham, ME, Webster, AR, Downes, SM, Hardcastle, AJ, NIHR-BioResource Rare Diseases Consortium, U.K. Inherited Retinal Dystrophy Consortium

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Expression of coiled-coil protein 1, a novel gene downstream of FGF2, in the developing brain von Pellicano, Francesca, Inglis-Broadgate, Suzanne L., Pante, Guido, Ansorge, Wilhelm, Iwata, Tomoko

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Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders von Holt, R, Iseri, SAU, Wyatt, AW, Bax, DA, Diaz, DG, Santos, C, Broadgate, S, Dunn, R, Bruty, J, Wallis, Y, McMullan, D, Ogilvie, C, Gerrelli, D, Zhang, Y, Ragge, N

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Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy von Hull, S, Arno, G, Robson, AG, Broadgate, S, Plagnol, V, McKibbin, M, Halford, S, Michaelides, M, Holder, GE, Moore, AT, Khan, KN, Webster, AR

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A Cloud of Witnesses, For The Royal Prerogatives Of Jesus Christ. Or, The Last Speeches and Testimonies Of those who have suffered for the Truth in Scotland Since the Year 1680

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The trajectory of the Anthropocene: The Great Acceleration von Steffen, Will, Broadgate, Wendy, Deutsch, Lisa, Gaffney, Owen, Ludwig, Cornelia

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Safe and just Earth system boundaries von Rockström, Johan, Gupta, Joyeeta, Qin, Dahe, Lade, Steven J., Abrams, Jesse F., Andersen, Lauren S., Armstrong McKay, David I., Bai, Xuemei, Bala, Govindasamy, Bunn, Stuart E., Ciobanu, Daniel, DeClerck, Fabrice, Ebi, Kristie, Gifford, Lauren, Gordon, Christopher, Hasan, Syezlin, Kanie, Norichika, Lenton, Timothy M., Loriani, Sina, Liverman, Diana M., Mohamed, Awaz, Nakicenovic, Nebojsa, Obura, David, Ospina, Daniel, Prodani, Klaudia, Rammelt, Crelis, Sakschewski, Boris, Scholtens, Joeri, Stewart-Koster, Ben, Tharammal, Thejna, van Vuuren, Detlef, Verburg, Peter H., Winkelmann, Ricarda, Zimm, Caroline, Bennett, Elena M., Bringezu, Stefan, Broadgate, Wendy, Green, Pamela A., Huang, Lei, Jacobson, Lisa, Ndehedehe, Christopher, Pedde, Simona, Rocha, Juan, Scheffer, Marten, Schulte-Uebbing, Lena, de Vries, Wim, Xiao, Cunde, Xu, Chi, Xu, Xinwu, Zafra-Calvo, Noelia, Zhang, Xin

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Set ambitious goals for biodiversity and sustainability von Díaz, Sandra, Zafra-Calvo, Noelia, Purvis, Andy, Verburg, Peter H, Obura, David, Leadley, Paul, Chaplin-Kramer, Rebecca, De Meester, Luc, Dulloo, Ehsan, Martín-López, Berta, Shaw, M Rebecca, Visconti, Piero, Broadgate, Wendy, Bruford, Michael W, Burgess, Neil D, Cavender-Bares, Jeannine, DeClerck, Fabrice, Fernández-Palacios, José María, Garibaldi, Lucas A, Hill, Samantha L L, Isbell, Forest, Khoury, Colin K, Krug, Cornelia B, Liu, Jianguo, Maron, Martine, McGowan, Philip J K, Pereira, Henrique M, Reyes-García, Victoria, Rocha, Juan, Rondinini, Carlo, Shannon, Lynne, Shin, Yunne-Jai, Snelgrove, Paul V R, Spehn, Eva M, Strassburg, Bernardo, Subramanian, Suneetha M, Tewksbury, Joshua J, Watson, James E M, Zanne, Amy E

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Isoprene and other non-methane hydrocarbons from seaweeds: a source of reactive hydrocarbons to the atmosphere von Broadgate, W.J, Malin, G, Küpper, F.C, Thompson, A, Liss, P.S

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Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy von Halford, Stephanie, PhD, Liew, Gerald, PhD, Mackay, Donna S., PhD, Sergouniotis, Panagiotis I., PhD, Holt, Richard, DPhil, Broadgate, Suzanne, PhD, Volpi, Emanuela V., PhD, Ocaka, Louise, PhD, Robson, Anthony G., PhD, Holder, Graham E., PhD, Moore, Anthony T., MD, Michaelides, Michel, MD, Webster, Andrew R., MD

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Unravelling the genetics of inherited retinal dystrophies: Past, present and future von Broadgate, Suzanne, Yu, Jing, Downes, Susan M., Halford, Stephanie

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