Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q von Toomes, Carmel, Bottomley, Helen M., Jackson, Richard M., Towns, Katherine V., Scott, Sheila, Mackey, David A., Craig, Jamie E., Jiang, Li, Yang, Zhenglin, Trembath, Richard, Woodruff, Geoffrey, Gregory-Evans, Cheryl Y., Gregory-Evans, Kevin, Parker, Michael J., Black, Graeme C.M., Downey, Louise M., Zhang, Kang, Inglehearn, Chris F.

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Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR) von Poulter, James A, Davidson, Alice E, Ali, Manir, Gilmour, David F, Parry, David A, Mintz-Hittner, Helen A, Carr, Ian M, Bottomley, Helen M, Long, Vernon W, Downey, Louise M, Sergouniotis, Panagiotis I, Wright, Genevieve A, MacLaren, Robert E, Moore, Anthony T, Webster, Andrew R, Inglehearn, Chris F, Toomes, Carmel

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Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreoretinopathy von Toomes, Carmel, Bottomley, Helen M, Scott, Sheila, Mackey, David A, Craig, Jamie E, Appukuttan, Binoy, Stout, J. Timothy, Flaxel, Christina J, Zhang, Kang, Black, Graeme C. M, Fryer, Alan, Downey, Louise M, Inglehearn, Chris F

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Comment on 'cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy' von Bottomley, Helen M, Downey, Louise M, Inglehearn, Chris F, Toomes, Carmel

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Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR) von Toomes, Carmel, Downey, Louise M, Bottomley, Helen M, Scott, Sheila, Woodruff, Geoffrey, Trembath, Richard C, Inglehearn, Chris F

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Spectrum and frequency of FZD4 mutations in fasnilial exudative vitreoretinopathy von TOOMES, Carmel, BOTTOMLEY, Helen M, FRYER, Alan, DOWNEY, Louise M, INGLEHEARN, Chris F, SCOTT, Sheila, MACKEY, David A, CRAIG, Jamie E, APPUKUTTAN, Binoy, STOUT, J. Timothy, FLAXEL, Christina J, KANG ZHANG, BLACK, Graeme C. M

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A Randomized Trial of Progesterone in Women with Bleeding in Early Pregnancy von Coomarasamy, Arri, Devall, Adam J, Cheed, Versha, Harb, Hoda, Middleton, Lee J, Gallos, Ioannis D, Williams, Helen, Eapen, Abey K, Roberts, Tracy, Ogwulu, Chriscasimir C, Goranitis, Ilias, Daniels, Jane P, Ahmed, Amna, Bender-Atik, Ruth, Bhatia, Kalsang, Bottomley, Cecilia, Brewin, Jane, Choudhary, Meenakshi, Crosfill, Fiona, Deb, Shilpa, Duncan, W. Colin, Ewer, Andrew, Hinshaw, Kim, Holland, Tom, Izzat, Feras, Johns, Jemma, Kriedt, Kathiuska, Lumsden, Mary-Ann, Manda, Padma, Norman, Jane E, Nunes, Natalie, Overton, Caroline E, Quenby, Siobhan, Rao, Sandhya, Ross, Jackie, Shahid, Anupama, Underwood, Martyn, Vaithilingam, Nirmala, Watkins, Linda, Wykes, Catherine, Horne, Andrew, Jurkovic, Davor

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Progesterone to prevent miscarriage in women with early pregnancy bleeding: the PRISM RCT von Coomarasamy, Arri, Harb, Hoda M, Devall, Adam J, Cheed, Versha, Roberts, Tracy E, Goranitis, Ilias, Ogwulu, Chidubem B, Williams, Helen M, Gallos, Ioannis D, Eapen, Abey, Daniels, Jane P, Ahmed, Amna, Bender-Atik, Ruth, Bhatia, Kalsang, Bottomley, Cecilia, Brewin, Jane, Choudhary, Meenakshi, Crosfill, Fiona, Deb, Shilpa, Duncan, W Colin, Ewer, Andrew, Hinshaw, Kim, Holland, Thomas, Izzat, Feras, Johns, Jemma, Lumsden, Mary-Ann, Manda, Padma, Norman, Jane E, Nunes, Natalie, Overton, Caroline E, Kriedt, Kathiuska, Quenby, Siobhan, Rao, Sandhya, Ross, Jackie, Shahid, Anupama, Underwood, Martyn, Vaithilingham, Nirmala, Watkins, Linda, Wykes, Catherine, Horne, Andrew W, Jurkovic, Davor, Middleton, Lee J

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Small heat-shock proteins interact with a flanking domain to suppress polyglutamine aggregation von Robertson, Amy L, Headey, Stephen J, Saunders, Helen M, Ecroyd, Heath, Scanlon, Martin J, Carver, John A, Bottomley, Stephen P

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Multi-domain misfolding: understanding the aggregation pathway of polyglutamine proteins von Saunders, Helen M., Bottomley, Stephen P.

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Conformational behavior and aggregation of ataxin-3 in SDS von Saunders, Helen M, Hughes, Victoria A, Cappai, Roberto, Bottomley, Stephen P

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Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes von White, Jacqueline K., Gerdin, Anna-Karin, Karp, Natasha A., Ryder, Ed, Bussell, James N., Salisbury, Jennifer, Clare, Simon, Ingham, Neil J., Podrini, Christine, Houghton, Richard, Estabel, Jeanne, Bottomley, Joanna R., Melvin, David G., Sunter, David, Barnes, Caroline, Cambridge, Emma, Carragher, Damian, Chana, Prabhjoat, Clarke, Kay, Igosheva, Natalia, Ismail, Ozama, Jackson, Hannah, Kane, Leanne, Lacey, Rosalind, Lucas, Mark, McGill, Katherine, McIntyre, Rebecca E., Messager, Sophie, Mottram, Lynda, Mulderrig, Lee, Pearson, Selina, Roberson, Laura-Anne, Salsbury, Grace, Sanger, Daniel, Shannon, Carl, Thompson, Paul C., Tuck, Elizabeth, Bushell, Wendy, Cook, Ross, Dalvi, Priya, Gleeson, Diane, Habib, Bishoy, Hardy, Matt, Miklejewska, Evelina, Price, Stacey, Sethi, Debarati, von Schiller, Dominique, Vyas, Sapna, West, Anthony P., Evans, Arthur, Holroyd, Simon, Iyer, Vivek, Lewis, Morag, Oakley, Darren, Richardson, David, Smedley, Damian, Agu, Chukwuma, Bryant, Jackie, Delaney, Liz, Gueorguieva, Nadia I., Tharagonnet, Helen, Townsend, Anne J., Biggs, Daniel, Collinson, Adam, Dumeau, Charles-Etienne, Grau, Evelyn, Harrison, Sarah, Ingle, Catherine E., Kundi, Helen, Madich, Alla, Mayhew, Danielle, Metcalf, Tom, Pass, Johanna, Reynolds, Helen, Sinclair, Caroline, Wardle-Jones, Hannah, Woods, Michael, Alexander, Liam, Brown, Terry, Flack, Francesca, Griggs, Nicola, McDermott, Jordan, Rogerson, Claire, White, Gemma, Zielezinski, Pawel, DiTommaso, Tia, Edwards, Andrew, Mahajan, Mary Ann, Yalcin, Binnaz, Tannahill, David, Logan, Darren W., MacArthur, Daniel G., Flint, Jonathan, Mahajan, Vinit B., Smyth, Ian, Watt, Fiona M., Skarnes, William C., Dougan, Gordon, Adams, David J., Bradley, Allan

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Nucleocytoplasmic Coagulation: An Injury-Induced Aggregation Event that Disulfide Crosslinks Proteins and Facilitates Their Removal by Plasmin von Samson, Andre L., Knaupp, Anja S., Sashindranath, Maithili, Borg, Rachael J., Au, Amanda E.-L., Cops, Elisa J., Saunders, Helen M., Cody, Stephen H., McLean, Catriona A., Nowell, Cameron J., Hughes, Victoria A., Bottomley, Stephen P., Medcalf, Robert L.

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Identification of genetic elements in metabolism by high-throughput mouse phenotyping von Rozman, Jan, Rathkolb, Birgit, Oestereicher, Manuela A., Schütt, Christine, Ravindranath, Aakash Chavan, Leuchtenberger, Stefanie, Sharma, Sapna, Kistler, Martin, Willershäuser, Monja, Brommage, Robert, Meehan, Terrence F., Mason, Jeremy, Haselimashhadi, Hamed, Hough, Tertius, Mallon, Ann-Marie, Wells, Sara, Santos, Luis, Lelliott, Christopher J., White, Jacqueline K., Sorg, Tania, Champy, Marie-France, Bower, Lynette R., Reynolds, Corey L., Flenniken, Ann M., Murray, Stephen A., Nutter, Lauryl M. J., Svenson, Karen L., West, David, Tocchini-Valentini, Glauco P., Beaudet, Arthur L., Bosch, Fatima, Braun, Robert B., Dobbie, Michael S., Gao, Xiang, Herault, Yann, Moshiri, Ala, Moore, Bret A., Kent Lloyd, K. C., McKerlie, Colin, Masuya, Hiroshi, Tanaka, Nobuhiko, Flicek, Paul, Parkinson, Helen E., Sedlacek, Radislav, Seong, Je Kyung, Wang, Chi-Kuang Leo, Moore, Mark, Brown, Steve D., Tschöp, Matthias H., Wurst, Wolfgang, Klingenspor, Martin, Wolf, Eckhard, Beckers, Johannes, Machicao, Fausto, Peter, Andreas, Staiger, Harald, Häring, Hans-Ulrich, Grallert, Harald, Campillos, Monica, Maier, Holger, Fuchs, Helmut, Gailus-Durner, Valerie, Werner, Thomas, Hrabe de Angelis, Martin

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Flanking domain stability modulates the aggregation kinetics of a polyglutamine disease protein von Saunders, Helen M., Gilis, Dimitri, Rooman, Marianne, Dehouck, Yves, Robertson, Amy L., Bottomley, Stephen P.

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Associations between AI-Assisted Tumor Amphiregulin and Epiregulin IHC and Outcomes from Anti-EGFR Therapy in the Routine Management of Metastatic Colorectal Cancer von Williams, Christopher J M, Elliott, Faye, Sapanara, Nancy, Aghaei, Faranak, Zhang, Liping, Muranyi, Andrea, Yan, Dongyao, Bai, Isaac, Zhao, Zuo, Shires, Michael, Wood, Henry M, Richman, Susan D, Hemmings, Gemma, Hale, Michael, Bottomley, Daniel, Galvin, Leanne, Cartlidge, Caroline, Dance, Sarah, Bacon, Chris M, Mansfield, Laura, Young-Zvandasara, Kathe, Sudan, Ajay, Lambert, Katy, Bibby, Irena, Coupland, Sarah E, Montazeri, Amir, Kipling, Natalie, Hughes, Kathryn, Cross, Simon S, Dewdney, Alice, Pheasey, Leanne, Leng, Cathryn, Gochera, Tatenda, Mangham, D Chas, Saunders, Mark, Pritchard, Martin, Stott, Helen, Mukherjee, Abhik, Ilyas, Mohammad, Silverman, Rafael, Hyland, Georgina, Sculthorpe, Declan, Thornton, Kirsty, Gould, Imogen, O'Callaghan, Ann, Brown, Nicholas, Turnbull, Samantha, Shaw, Lisa, Seymour, Matthew T, West, Nicholas P, Seligmann, Jenny F, Singh, Shalini, Shanmugam, Kandavel, Quirke, Philip

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INFRAFRONTIER--providing mutant mouse resources as research tools for the international scientific community von Meehan, TF, Chen, CK, Koscielny, G, Relac, M, Wilkinson, P, Flicek, P, Parkinson, H, Castro, A, Fessele, S, Steinkamp, R, Hagn, M, Raess, M, de Angelis, MH, Bottomley, J, Ramirez-Solis, R, Smedley, D, Ball, S, Blake, A, Fray, M, Kenyon, J, Mallon, AM, Brown, S, Massimi, M, Matteoni, R, Tocchini-Valentini, G, Herault, Y, Kollias, G, Ulfhake, B, Demengeot, J, Fremond, C, Bosch, F, Montoliu, L, Soininen, R, Schughart, K, Brakebusch, C, Sedlacek, R, Rulicke, T, McKerlie, C, Malissen, B, Iraqi, F, Jonkers, J, Russig, H, Huylebroeck, D

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Introduction von Coomarasamy, Arri, Harb, Hoda M., Devall, Adam J., Cheed, Versha, Roberts, Tracy E., Goranitis, Ilias, Ogwulu, Chidubem B., Williams, Helen M., Gallos, Ioannis D., Eapen, Abey, Daniels, Jane P., Ahmed, Amna, Bender-Atik, Ruth, Bhatia, Kalsang, Bottomley, Cecilia, Brewin, Jane, Choudhary, Meenakshi, Crosfill, Fiona, Deb, Shilpa, Duncan, W. Colin, Ewer, Andrew, Hinshaw, Kim, Holland, Thomas, Izzat, Feras, Johns, Jemma, Lumsden, Mary-Ann, Manda, Padma, Norman, Jane E., Nunes, Natalie, Overton, Caroline E., Kriedt, Kathiuska, Quenby, Siobhan, Rao, Sandhya, Ross, Jackie, Shahid, Anupama, Underwood, Martyn, Vaithilingham, Nirmala, Watkins, Linda, Wykes, Catherine, Horne, Andrew W., Jurkovic, Davor, Middleton, Lee J.

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Impact of essential genes on the success of genome editing experiments generating 3313 new genetically engineered mouse lines von Elrick, Hillary, Peterson, Kevin A., Willis, Brandon J., Lanza, Denise G., Acar, Elif F., Ryder, Edward J., Teboul, Lydia, Kasparek, Petr, Birling, Marie-Christine, Adams, David J., Bradley, Allan, Braun, Robert E., Brown, Steve D., Caulder, Adam, Codner, Gemma F., DeMayo, Francesco J., Dickinson, Mary E., Doe, Brendan, Duddy, Graham, Gertsenstein, Marina, Goodwin, Leslie O., Hérault, Yann, Lintott, Lauri G., Lloyd, K. C. Kent, Lorenzo, Isabel, Mackenzie, Matthew, Mallon, Ann-Marie, McKerlie, Colin, Parkinson, Helen, Ramirez-Solis, Ramiro, Seavitt, John R., Sedlacek, Radislav, Skarnes, William C., Smedley, Damien, Wells, Sara, White, Jacqueline K., Wood, Joshua A., Murray, Stephen A., Heaney, Jason D., Nutter, Lauryl M. J.

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Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis von Banka, Siddharth, Cain, Stuart A, Carim, Sabrya, Daly, Sarah B, Urquhart, Jill E, Erdem, Günhan, Harris, Jade, Bottomley, Michelle, Donnai, Dian, Kerr, Bronwyn, Kingston, Helen, Superti-Furga, Andreas, Unger, Sheila, Ennis, Holly, Worthington, Jane, Herrick, Ariane L, Merry, Catherine L R, Yue, Wyatt W, Kielty, Cay M, Newman, William G

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