A transversely polarised deuteron target for kaon-nucleon interaction studies von Cash, A R, Cox, S F J, Dawson, J, Lester, W, Newport, R W, Parsons, A S L, Pickles, D C, Pullinger, G E, Read, S F J, Regan, G, Thompson, B L, Towndrow, E

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Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis von Jordan, Catherine T., Cao, Li, Roberson, Elisha D.O., Duan, Shenghui, Helms, Cynthia A., Nair, Rajan P., Duffin, Kristina Callis, Stuart, Philip E., Goldgar, David, Hayashi, Genki, Olfson, Emily H., Feng, Bing-Jian, Pullinger, Clive R., Kane, John P., Wise, Carol A., Goldbach-Mansky, Raphaela, Lowes, Michelle A., Peddle, Lynette, Chandran, Vinod, Liao, Wilson, Rahman, Proton, Krueger, Gerald G., Gladman, Dafna, Elder, James T., Menter, Alan, Bowcock, Anne M.

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Comprehensive assignment of roles for Salmonella typhimurium genes in intestinal colonization of food-producing animals von Chaudhuri, Roy R, Morgan, Eirwen, Peters, Sarah E, Pleasance, Stephen J, Hudson, Debra L, Davies, Holly M, Wang, Jinhong, van Diemen, Pauline M, Buckley, Anthony M, Bowen, Alison J, Pullinger, Gillian D, Turner, Daniel J, Langridge, Gemma C, Turner, A Keith, Parkhill, Julian, Charles, Ian G, Maskell, Duncan J, Stevens, Mark P

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Mutational signature in colorectal cancer caused by genotoxic pks+E. coli von Pleguezuelos-Manzano, Cayetano, Puschhof, Jens, Rosendahl Huber, Axel, van Hoeck, Arne, Wood, Henry M., Nomburg, Jason, Gurjao, Carino, Manders, Freek, Dalmasso, Guillaume, Stege, Paul B., Paganelli, Fernanda L., Geurts, Maarten H., Beumer, Joep, Mizutani, Tomohiro, Miao, Yi, van der Linden, Reinier, van der Elst, Stefan, Garcia, K. Christopher, Top, Janetta, Willems, Rob J. L., Giannakis, Marios, Bonnet, Richard, Quirke, Phil, Meyerson, Matthew, Cuppen, Edwin, van Boxtel, Ruben, Clevers, Hans

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Inducible apelin receptor knockdown reduces differentiation efficiency and contractility of hESC-derived cardiomyocytes von Macrae, Robyn G C, Colzani, Maria T, Williams, Thomas L, Bayraktar, Semih, Kuc, Rhoda E, Pullinger, Anna L, Bernard, William G, Robinson, Emma L, Davenport, Emma E, Maguire, Janet J, Sinha, Sanjay, Davenport, Anthony P

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Identification of Four Gene Variants Associated with Myocardial Infarction von Shiffman, Dov, Ellis, Stephen G., Rowland, Charles M., Malloy, Mary J., Luke, May M., Iakoubova, Olga A., Pullinger, Clive R., Cassano, June, Aouizerat, Bradley E., Fenwick, Raymond G., Reitz, Richard E., Catanese, Joseph J., Leong, Diane U., Zellner, Christian, Sninsky, John J., Topol, Eric J., Devlin, James J., Kane, John P.

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Mapping and characterization of structural variation in 17,795 human genomes von Abel, Haley J., Larson, David E., Regier, Allison A., Chiang, Colby, Das, Indraniel, Kanchi, Krishna L., Layer, Ryan M., Neale, Benjamin M., Salerno, William J., Reeves, Catherine, Buyske, Steven, Matise, Tara C., Muzny, Donna M., Zody, Michael C., Lander, Eric S., Dutcher, Susan K., Stitziel, Nathan O., Hall, Ira M.

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Substitution mutational signatures in whole-genome-sequenced cancers in the UK population von Degasperi, Andrea, Zou, Xueqing, Amarante, Tauanne Dias, Martinez-Martinez, Andrea, Koh, Gene Ching Chiek, Dias, João M L, Heskin, Laura, Chmelova, Lucia, Rinaldi, Giuseppe, Wang, Valerie Ya Wen, Nanda, Arjun S, Bernstein, Aaron, Momen, Sophie E, Young, Jamie, Perez-Gil, Daniel, Memari, Yasin, Badja, Cherif, Shooter, Scott, Czarnecki, Jan, Brown, Matthew A, Davies, Helen R, Nik-Zainal, Serena

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis von Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea

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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans von Wei, Wei, Pagnamenta, Alistair T., Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Tuna, Salih, Odhams, Christopher A., Fratter, Carl, Turro, Ernest, Caulfield, Mark J., Taylor, Jenny C., Rahman, Shamima, Chinnery, Patrick F.

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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders von Rowlands, Charlie, Thomas, Huw B., Lord, Jenny, Wai, Htoo A., Arno, Gavin, Beaman, Glenda, Sergouniotis, Panagiotis, Gomes-Silva, Beatriz, Campbell, Christopher, Gossan, Nicole, Hardcastle, Claire, Webb, Kevin, O’Callaghan, Christopher, Hirst, Robert A., Ramsden, Simon, Jones, Elizabeth, Clayton-Smith, Jill, Webster, Andrew R., Douglas, Andrew G. L., O’Keefe, Raymond T., Newman, William G., Baralle, Diana, Black, Graeme C. M., Ellingford, Jamie M.

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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration von Vig, Anjali, Poulter, James A., Ottaviani, Daniele, Tavares, Erika, Toropova, Katerina, Tracewska, Anna Maria, Mollica, Antonio, Kang, Jasmine, Kehelwathugoda, Oshini, Paton, Tara, Maynes, Jason T., Wheway, Gabrielle, Arno, Gavin, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Di Scipio, Matteo, Li, Shuning, Ellingford, Jamie, Black, Graeme, Webster, Andrew, Rydzanicz, Małgorzata, Stawiński, Piotr, Płoski, Rafał, Vincent, Ajoy, Cheetham, Michael E., Inglehearn, Chris F., Roberts, Anthony, Heon, Elise

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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer von Trotman, Jamie, Armstrong, Ruth, Firth, Helen, Trayers, Claire, Watkins, James, Allinson, Kieren, Jacques, Thomas S., Nicholson, James C., Burke, G. A. Amos, Behjati, Sam, Murray, Matthew J., Hook, Catherine E., Tarpey, Patrick

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Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy von Bacq, Alexandre, Roussel, Delphine, Bonduelle, Thomas, Zagaglia, Sara, Maletic, Marina, Ribierre, Théo, Adle-Biassette, Homa, Marchal, Cécile, Jennesson, Mélanie, An, Isabelle, Picard, Fabienne, Navarro, Vincent, Sisodiya, Sanjay M, Baulac, Stéphanie

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An intermediate-effect size variant in UMOD confers risk for chronic kidney disease von Olinger, Eric, Schaeffer, Celine, Kidd, Kendrah, Elhassan, Elhussein A. E., Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G., Kistler, Andreas D., Wilson, Ian J., Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Eckardt, Kai-Uwe, Bleyer, Anthony J., Köttgen, Anna, Conlon, Peter J., Wiesener, Michael, Sayer, John A., Rampoldi, Luca, Devuyst, Olivier

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Prevalence and significance of DDX41 gene variants in the general population von Cheloor Kovilakam, Sruthi, Gu, Muxin, Dunn, William G., Marando, Ludovica, Barcena, Clea, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Nik-Zainal, Serena, Mohorianu, Irina, Kar, Siddhartha P., Fabre, Margarete A., Quiros, Pedro M., Vassiliou, George S.

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas von Tolchin, Dara, Yeager, Jessica P., Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A., Haseeb, Abdul, Santen, G.W.E., Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Lancaster, Emily, Krantz, Ian D., Krock, Bryan L., DeChene, Elizabeth T., Melistaccio, Giada, Suri, Mohnish, Foulds, Nicola, Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Need, A.C., Odhams, C.A., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Begtrup, Amber, Henderson, Lindsay B., Forster, Cara, Reed, Patrick, McDonald, Marie T., McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogné, Benjamin, Isidor, Bertrand, Stoeva, Radka, Le Caignec, Cédric

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Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome von Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Cerkauskaite, Agne, Savige, Judy

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy von Parry, David A., Martin, Carol-Anne, Greene, Philip, Marsh, Joseph A., Blyth, Moira, Cox, Helen, Donnelly, Deirdre, Greenhalgh, Lynn, Greville-Heygate, Stephanie, Harrison, Victoria, Lachlan, Katherine, McKenna, Caoimhe, Quigley, Alan J., Rea, Gillian, Robertson, Lisa, Suri, Mohnish, Jackson, Andrew P.

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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project von Wheway, Gabrielle, Mitchison, Hannah M

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