A retrospective validation of the FocalPoint GS slide profiler NFR technology by analysis of interval disease outcomes compared with manual cytology by Nuttall, David S., Hillier, Sharon, Clayton, Helen R., Savage, Amanda J., Martin, Cara M., O’Leary, John J.

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data by Wright, Caroline F, Dr, Fitzgerald, Tomas W, MS, Jones, Wendy D, MBBS, Clayton, Stephen, MRes, McRae, Jeremy F, PhD, van Kogelenberg, Margriet, PhD, King, Daniel A, MD, Ambridge, Kirsty, BSc, Barrett, Daniel M, BSc, Bayzetinova, Tanya, BSc, Bevan, A Paul, PhD, Bragin, Eugene, MSc, Chatzimichali, Eleni A, PhD, Gribble, Susan, PhD, Jones, Philip, MSc, Krishnappa, Netravathi, MSc, Mason, Laura E, BSc, Miller, Ray, PhD, Morley, Katherine I, PhD, Parthiban, Vijaya, PhD, Prigmore, Elena, PhD, Rajan, Diana, MSc, Sifrim, Alejandro, PhD, Swaminathan, G Jawahar, PhD, Tivey, Adrian R, MSc, Middleton, Anna, PhD, Parker, Michael, Prof, Carter, Nigel P, PhD, Barrett, Jeffrey C, PhD, Hurles, Matthew E, PhD, FitzPatrick, David R, Prof, Firth, Helen V, DM

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Prevalence and architecture of de novo mutations in developmental disorders by McRae, Jeremy F, Clayton, Stephen, Mason, Laura E, Tivey, Adrian R, Ahmed, Munaza, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Bennett, Chris, Bernhard, Birgitta, Bevan, A. Paul, Blair, Edward, Blyth, Moira, Burn, John, Castle, Bruce, Clasper, Susan, Collins, Amanda, Collinson, Morag N, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fryer, Alan, Gaunt, Lorraine, Goudie, David, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Ingram, Stuart, Jackson, Andrew, Kaemba, Beckie, Kazembe, Sandra, Kinning, Esther, Kraus, Alison, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lim, Derek, Longman, Cheryl, Lynch, Sally A, Maher, Eddy, Maye, Una, McKay, Kirsten, McWilliam, Catherine, Metcalfe, Kay, Morgan, Sian, Murday, Victoria, Murphy, Helen, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Park, Soo-Mi, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Pratt, Norman, Quarrell, Oliver, Randall, Josh, Rankin, Julia, Raymond, Lucy, Robert, Leema, Roberts, Paul, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Selby, Ann, Sequeira, Cheryl, Shearing, Emma, Smith, Audrey, Smith, Kath, Splitt, Miranda, Suri, Mohnish, Sutton, Vivienne, Tatton-Brown, Kate, Temple, I. Karen, Turner, Claire, Varghese, Vinod, Vasudevan, Pradeep, Vogt, Julie, Wakeling, Emma, Wilcox, Sarah, Williams, Denise, Williams, Nicola, Wilson, Louise, Wright, Michael, Yates, Laura, Yau, Michael, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C

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Pathogenicity and selective constraint on variation near splice sites by Lord, Jenny, Gallone, Giuseppe, Short, Patrick J, McRae, Jeremy F, Ironfield, Holly, Wynn, Elizabeth H, Gerety, Sebastian S, He, Liu, Kerr, Bronwyn, Johnson, Diana S, McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P M, Lam, Wayne, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E

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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease by Jenkinson, Emma M., Rehman, Atteeq U., Walsh, Tom, Clayton-Smith, Jill, Lee, Kwanghyuk, Morell, Robert J., Drummond, Meghan C., Khan, Shaheen N., Naeem, Muhammad Asif, Rauf, Bushra, Billington, Neil, Schultz, Julie M., Urquhart, Jill E., Lee, Ming K., Berry, Andrew, Hanley, Neil A., Mehta, Sarju, Cilliers, Deirdre, Clayton, Peter E., Kingston, Helen, Smith, Miriam J., Warner, Thomas T., Black, Graeme C., Trump, Dorothy, Davis, Julian R.E., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, King, Mary-Claire, Friedman, Thomas B., Newman, William G.

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Emergence and spread of a human-transmissible multidrug-resistant nontuberculous mycobacterium by Bryant, Josephine M., Grogono, Dorothy M., Rodriguez-Rincon, Daniela, Everall, Isobel, Brown, Karen P., Moreno, Pablo, Verma, Deepshikha, Hill, Emily, Drijkoningen, Judith, Gilligan, Peter, Esther, Charles R., Noone, Peadar G., Giddings, Olivia, Bell, Scott C., Thomson, Rachel, Wainwright, Claire E., Coulter, Chris, Pandey, Sushil, Wood, Michelle E., Stockwell, Rebecca E., Ramsay, Kay A., Sherrard, Laura J., Kidd, Timothy J., Jabbaur, Nassib, Johnson, Graham R., Knibbs, Luke D., Morawska, Lidia, Sly, Peter D., Jones, Andrew, Bilton, Diana, Laurenson, Ian, Ruddy, Michael, Bourke, Stephen, Bowler, Ian C. J. W., Chapman, Stephen J., Clayton, Andrew, Cullen, Mairi, Dempsey, Owen, Denton, Miles, Desai, Maya, Drew, Richard J., Edenborough, Frank, Evans, Jason, Folb, Jonathan, Daniels, Thomas, Humphrey, Helen, Isalska, Barbara, Jensen-Fangel, Søren, Jönsson, Bodil, Jones, Andrew M., Katzenstein, Terese L., Lillebaek, Troels, MacGregor, Gordon, Mayell, Sarah, Millar, Michael, Modha, Deborah, Nash, Edward F., O'Brien, Christopher, O'Brien, Deirdre, Ohri, Chandra, Pao, Caroline S., Peckham, Daniel, Perrin, Felicity, Perry, Audrey, Pressler, Tania, Prtak, Laura, Qvist, Tavs, Robb, Ali, Rodgers, Helen, Schaffer, Kirsten, Shafi, Nadia, van Ingen, Jakko, Walshaw, Martin, Watson, Danie, West, Noreen, Whitehouse, Joanna, Haworth, Charles S., Harris, Simon R., Ordway, Diane, Parkhill, Julian, Floto, R. Andres

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Assembly of nuclear dimers of PI3K regulatory subunits is regulated by the Cdc42-activated tyrosine kinase ACK by Clayton, Natasha S., Fox, Millie, Vicenté-Garcia, Jose J., Schroeder, Courtney M., Littlewood, Trevor D., Wilde, Jonathon I., Krishnan, Kadalmani, Brown, Murray J.B., Crafter, Claire, Mott, Helen R., Owen, Darerca

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders by Faundes, Víctor, Demos, Michelle K., Goldman, Amy, Lehman, Anna, McKee, Shane, Morton, Jenny, Rankin, Julia, Temple, I. Karen, Adam, Shelin, van Karnebeek, Clara, Aitken, Stuart, Alvi, Mohsan, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Mason, Laura E., Tivey, Adrian R., Ahmed, Munaza, Balasubramanian, Meena, Barnicoat, Angela, Bitner-Glindzicz, Maria, Bourdon, Louise, Bradley, Lisa, Burn, John, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Crow, Yanick, Dabir, Tabib, Davidson, Rosemarie, de Vries, Dylan, Deshpande, Charu, Dixit, Abhijit, Dobbie, Angus, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Flinter, Frances, Foulds, Nicola, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Greene, Philip, Gribble, Susan, Holder, Muriel, Hollingsworth, Georgina, Ingram, Stuart, Jenkins, Lucy, Joss, Shelagh, Kerr, Bronwyn, Kini, Usha, Kraus, Alison, Lachlan, Katherine, Marks, Karen, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, Middleton, Anna, Mohammed, Shehla, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Samant, Shalaka, Selby, Ann, Sequeira, Cheryl, Shears, Debbie, Smith, Audrey, Smith, Kath, Splitt, Miranda, Squires, Miranda, Tomkins, Susan, Treacy, Becky, Tysoe, Carolyn, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Whiteford, Margo, Wilcox, Sarah, Wilkinson, Emily, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R.

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Intravenous or oral antibiotic treatment in adults and children with cystic fibrosis and Pseudomonas aeruginosa infection: the TORPEDO-CF RCT by Langton Hewer, Simon C, Smyth, Alan R, Brown, Michaela, Jones, Ashley P, Hickey, Helen, Kenna, Dervla, Ashby, Deborah, Thompson, Alexander, Sutton, Laura, Clayton, Dannii, Arch, Barbara, Tanajewski, Łukasz, Berdunov, Vladislav, Williamson, Paula R

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Synaptic, transcriptional and chromatin genes disrupted in autism by De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Ercument Cicek, A., Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarjinder, Klei, Lambertus, Kosmicki, Jack, Fu, Shih-Chen, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F., Brownfeld, Jessica M., Cai, Jinlu, Campbell, Nicholas G., Carracedo, Angel, Chahrour, Maria H., Chiocchetti, Andreas G., Coon, Hilary, Crawford, Emily L., Crooks, Lucy, Curran, Sarah R., Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A., Gallagher, Louise, Geller, Evan, Guter, Stephen J., Sean Hill, R., Ionita-Laza, Iuliana, Jimenez Gonzalez, Patricia, Kilpinen, Helena, Klauck, Sabine M., Kolevzon, Alexander, Lee, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Ma’ayan, Avi, Marshall, Christian R., McInnes, Alison L., Neale, Benjamin, Owen, Michael J., Ozaki, Norio, Parellada, Mara, Parr, Jeremy R., Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J., Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Wang, Li-San, Weiss, Lauren A., Jeremy Willsey, A., Yu, Timothy W., Yuen, Ryan K. C., Cook, Edwin H., Freitag, Christine M., Gill, Michael, Hultman, Christina M., Lehner, Thomas, Palotie, Aarno, Schellenberg, Gerard D., Sklar, Pamela, State, Matthew W., Sutcliffe, James S., Walsh, Christopher A., Scherer, Stephen W., Zwick, Michael E., Barrett, Jeffrey C., Cutler, David J., Roeder, Kathryn, Devlin, Bernie, Daly, Mark J., Buxbaum, Joseph D.

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Different corticosteroid induction regimens in children and young people with juvenile idiopathic arthritis: the SIRJIA mixed-methods feasibility study by Jones, Ashley P, Clayton, Dannii, Nkhoma, Gloria, Sherratt, Frances C, Peak, Matthew, Stones, Simon R, Roper, Louise, Young, Bridget, McErlane, Flora, Moitt, Tracy, Ramanan, Athimalaipet V, Foster, Helen E, Williamson, Paula R, Deepak, Samundeeswari, Beresford, Michael W, Baildam, Eileen M

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

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Inhibition of Ral GTPases Using a Stapled Peptide Approach by Thomas, Jemima C., Cooper, Jonathan M., Clayton, Natasha S., Wang, Chensu, White, Michael A., Abell, Chris, Owen, Darerca, Mott, Helen R.

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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder by Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth

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Defining causes of death‐censored kidney allograft failure: A 5‐year multicentre ANZDATA and clinical cross‐sectional study by Mulley, William R., Hughes, Peter D., Collins, Michael G., Pilmore, Helen L., Clayton, Philip A., Wyld, Melanie L., Lee, Darren, Jeugd, Jane, Fernando, Sanduni C., Kuo, Stephanie Fang‐Tzu, Tan, Sarah, Jahan, Sadia, Lim, Wai H.

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Speech pathology assessment of dysphagia post endotracheal extubation: A service-model evaluation by Clayton, Nicola A., Ward, Elizabeth C., Norman, Eva, Ryan, Helen, Kol, Mark R.

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Comparison of lotions, creams, gels and ointments for the treatment of childhood eczema: the BEE RCT by Ridd, Matthew J, Wells, Sian, MacNeill, Stephanie J, Sanderson, Emily, Webb, Douglas, Banks, Jonathan, Sutton, Eileen, Shaw, Alison Rg, Wilkins, Zoe, Clayton, Julie, Roberts, Amanda, Garfield, Kirsty, Liddiard, Lyn, Barrett, Tiffany J, Lane, J Athene, Baxter, Helen, Howells, Laura, Taylor, Jodi, Hay, Alastair D, Williams, Hywel C, Thomas, Kim S, Santer, Miriam

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy by Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.

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Epidemiology of Enteroaggregative, Enteropathogenic, and Shiga Toxin–Producing Escherichia coli Among Children Aged <5 Years in 3 Countries in Africa, 2015–2018: Vaccine Impact on... by Ochieng, John B, Powell, Helen, Sugerman, Ciara E, Omore, Richard, Ogwel, Billy, Juma, Jane, Awuor, Alex O, Sow, Samba O, Sanogo, Doh, Onwuchekwa, Uma, Keita, Adama Mamby, Traoré, Awa, Badji, Henry, Hossain, M Jahangir, Jones, Joquina Chiquita M, Kasumba, Irene N, Nasrin, Dilruba, Roose, Anna, Liang, Yuanyuan, Jamka, Leslie P, Antonio, Martin, Platts-Mills, James A, Liu, Jie, Houpt, Eric R, Mintz, Eric D, Hunsperger, Elizabeth, Onyango, Clayton O, Strockbine, Nancy, Widdowson, Marc-Alain, Verani, Jennifer R, Tennant, Sharon M, Kotloff, Karen L

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance by BURKITT WRIGHT, Emma M. M, SPENCER, Helen L, MADDEN, Colm, DODDS, Annabel, CHANDLER, Kate E, BANKA, Siddharth, AU, Leon, CLAYTON-SMITH, Jill, KHAN, Naz, BIESECKER, Leslie G, WILSON, Meredith, ROHRBACH, Marianne, DALY, Sarah B, COLOMBI, Marina, GIUNTA, Cecilia, BLACK, Graeme C. M, MANSON, Forbes D. C, ZEEF, Leo A. H, URQUHART, Jill, ZOPPI, Nicoletta, BONSHEK, Richard, TOSOUNIDIS, Ioannis, MOHAN, Meyyammai

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