THU0190 A Six-Week Progressive Resistance Training Class Improves Function and Fatigue in RA Patients von Berntzen, B., Erwood, L., Bellerby, T., Price, E., Collins, D., Williamson, L.

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Real-time, MinION-based, amplicon sequencing for lineage typing of infectious bronchitis virus from upper respiratory samples von Butt, Salman L., Erwood, Eric C., Zhang, Jian, Sellers, Holly S., Young, Kelsey, Lahmers, Kevin K., Stanton, James B.

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Anti-CRISPR AcrIIA5 Potently Inhibits All Cas9 Homologs Used for Genome Editing von Garcia, Bianca, Lee, Jooyoung, Edraki, Alireza, Hidalgo-Reyes, Yurima, Erwood, Steven, Mir, Aamir, Trost, Chantel N., Seroussi, Uri, Stanley, Sabrina Y., Cohn, Ronald D., Claycomb, Julie M., Sontheimer, Erik J., Maxwell, Karen L., Davidson, Alan R.

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A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants von Chawner, Samuel J.R.A, Doherty, Joanne L, Anney, Richard J. L, Antshel, Kevin M, Bearden, Carrie E, Bernier, Raphael, Chung, Wendy K, Clements, Caitlin C, Curran, Sarah R, Cuturilo, Goran, Fiksinski, Ania M, Gallagher, Louise, Goin-Kochel, Robin P, Gur, Raquel E, Hanson, Ellen, Jacquemont, Sebastien, Kates, Wendy R, Kushan, Leila, Maillard, Anne M, McDonald-McGinn, Donna M, Mihaljevic, Marina, Miller, Judith S, Moss, Hayley, Pejovic-Milovancevic, Milica, Schultz, Robert T, Green-Snyder, LeeAnne, Vorstman, Jacob A, Wenger, Tara L, Hall, Jeremy, Owen, Michael J, van den Bree, Marianne B.M

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Mental health and behavioural problems in children with XXYY: a comparison with intellectual disabilities von Srinivasan, R., Wolstencroft, J., Erwood, M., Raymond, F. L., Bree, M., Hall, J., Skuse, D.

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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations von Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy

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GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements von Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine

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Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease von Schultz, Mark L, Schache, Kylie J, Azaria, Ruth D, Kuiper, Esmée Q, Erwood, Steven, Ivakine, Evgueni A, Farhat, Nicole Y, Porter, Forbes D, Pathmasiri, Koralege C, Cologna, Stephanie M, Uhler, Michael D, Lieberman, Andrew P

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Hedgehog-GLI signaling inFoxd1-positive stromal cells promotes murine nephrogenesis via TGFβ signaling von Rowan, CJ, Li, W, Martirosyan, H, Erwood, S, Hu, D, Kim, Y-K, Sheybani-Deloui, S, Mulder, J, Blake, J, Chen, L, Rosenblum, ND

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Germline selection shapes human mitochondrial DNA diversity von Wei, Wei, Tuna, Salih, Keogh, Michael J, Smith, Katherine R, Aitman, Timothy J, Beales, Phil L, Bennett, David L, Gale, Daniel P, Bitner-Glindzicz, Maria A.K, Black, Graeme C, Brennan, Paul, Elliott, Perry, Flinter, Frances A, Floto, R. Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R, Markus, Hugh S, Morrell, Nicholas W, Newman, William G, Roberts, Irene, Sayer, John A, Smith, Kenneth G.C, Taylor, Jenny C, Watkins, Hugh, Webster, Andrew R, Wilkie, Andrew O.M, Williamson, Catherine, Attwood, Anthony, Brown, Matthew, Brod, Naomi Clements, Crisp-Hihn, Abigail, Davis, John, Deevi, Sri V.V, Dewhurst, Eleanor F, Edwards, Karen, Erwood, Marie, Fox, James, Frary, Amy J, Hu, Fengyuan, Jolley, Jennifer, Kingston, Nathalie, Linger, Rachel, Mapeta, Rutendo, Martin, Jennifer, Meacham, Stuart, Papadia, Sofia, Rayner-Matthews, Paula J, Samarghitean, Crina, Shamardina, Olga, Simeoni, Ilenia, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Titterton, Catherine, von Ziegenweidt, Julie, Watt, Christopher, Whitehorn, Deborah, Wood, Yvette, Yates, Katherine, Yu, Ping, James, Roger, Ashford, Sofie, Penkett, Christopher J, Stirrups, Kathleen E, Bariana, Tadbir, Lentaigne, Claire, Sivapalaratnam, Suthesh, Westbury, Sarah K, Allsup, David J, Bakchoul, Tamam, Biss, Tina, Boyce, Sara, Collins, Janine, Collins, Peter W, Curry, Nicola S, Downes, Kate, Dutt, Tina, Erber, Wendy N, Evans, Gillian, Everington, Tamara, Favier, Remi, Gomez, Keith, Greene, Daniel, Gresele, Paolo, Hart, Daniel, Kazmi, Rashid, Kelly, Anne M, Lambert, Michele, Madan, Bella, Mangles, Sarah, Mathias, Mary, Millar, Carolyn, Obaji, Samya, Peerlinck, Kathelijne, Roughley, Catherine, Schulman, Sol, Scully, Marie

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Reversal Of Mental Fatigue With Exercise: Influence Of Fitness Status And Caffeine von O’Dea, Namrita K., Wheaton, Lewis A., Zamayar, Mahia, Erwood, Amalie A., Breitbach, Megan, Millard-Stafford, Melinda L.

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Femur Fracture Associated with Knee Brace Wear in the Motocross Athlete: A Report of Two Cases and Review of the Literature von Schenker, M. L., Schwartz, A. M., Wilson, Jacob M., Erwood, Amalie, Moore, Thomas

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Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions von Chawner, Samuel J. R. A., Paine, Amy L., Dunn, Matt J., Walsh, Alice, Sloane, Poppy, Thomas, Megan, Evans, Alexandra, Hopkins‐Jones, Lucinda, Struik, Siske, Hall, Jeremy, Erichsen, Jonathan T., Leekam, Susan R., Owen, Michael J., Hay, Dale, Bree, Marianne B. M., Raymond, F. Lucy, Dewhurst, Eleanor, Lafont, Amy, Timur, Husniye, Wicks, Francesca, Ye, Zheng, Baker, Kate, Walker, Neil, Wallwork, Sarah, Skuse, David, Denaxas, Spiros, Mandy, William, Wolstencroft, Jeanne, Davies, Sarah, Erwood, Marie, Juj, Manoj, Kerry, Eleanor, Lucock, Anna, Printzlau, Frida, Srinivasan, Ramya, Walker, Susan, Coscini, Nadia, Fatih, Nasrtullah, Denyer, Hayley, Andrews, Sophie, Chawner, Samuel, Cuthbert, Andrew, Challenger, Aimee, Hall, Jeremy, Lewis, Nicola, Owen, Michael, Ray, Sinead, Sopp, Matthew, Moss, Hayley, Bree, Marianne, Holmans, Peter, Bowen, Samantha, Bradley, Karen, Birch, Philippa, Tong, Molly, Ford, Tasmin, Searle, Beverly, Wynn, Sarah, Robertson, Lisa, Berg, Jonathan, Lampe, Anne, Joss, Shelagh, Brennan, Paul, Kraus, Alison, Weber, Astrid, Rawson, Myfanwy, Quarrell, Oliver, Vasudevan, Pradeep, Harrison, Rachel, Williams, Denise, Maher, Eamonn, Kini, Usha, Clowes, Virginia, Van Dijk, Fleur, Gurasashvilli, Jana, Mansour, Sahar, Holder‐Espinasse, Muriel, Watford, Amy, Rankin, Julia, Baralle, Diana, Procter, Annie

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Mental health and behavioural problems in children with XXYY: a comparison with intellectual disabilities von Srinivasan, R, Wolstencroft, J, Erwood, M, Raymond, FL, van den Bree, M, Hall, J, Skuse, D

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Intellectual disability and copy number variants: mental health in the IMAGINE ID cohort von Erwood, M, Wicks, F, Wolstencroft, J, Srinivasan, R, Hall, J, Van den Bree, M, Denaxas, S, Skuse, D, Imagine, ID, Raymond, FL

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing von Sanchis-Juan, A, Stephens, J, French, CE, Gleadall, N, Megy, K, Penkett, C, Shamardina, O, Stirrups, K, Delon, I, Dewhurst, E, Dolling, H, Erwood, M, Grozeva, D, Stefanucci, L, Arno, G, Webster, AR, Cole, T, Austin, T, Branco, RG, Ouwehand, WH, Raymond, FL, Carss, KJ

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Femur Fracture Associated with Knee Brace Wear in the Motocross Athlete: A Report of Two Cases and Review of the Literature von Erwood, Amalie, Wilson, Jacob M, Schwartz, Andrew M, Schenker, Mara L, Moore, Thomas

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures von Ito, Y, Carss, KJ, Duarte, ST, Hartley, T, Keren, B, Kurian, MA, Marey, I, Charles, P, Mendonça, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Aitman, T, Bennett, D, Caulfield, M, Chinnery, P, Gale, D, Koziell, A, Kuijpers, TW, Laffan, MA, Maher, E, Markus, HS, Morrell, NW, Ouwehand, WH, Perry, DJ, Raymond, FL, Roberts, I, Smith, KGC, Thrasher, A, Watkins, H, Williamson, C, Woods, G, Ashford, S, Bradley, JR, Fletcher, D, Hammerton, T, James, R, Kingston, N, Penkett, CJ, Stirrups, K, Veltman, M, Young, T, Brown, M, Clements-Brod, N, Davis, J, Dewhurst, E, Dolling, H, Erwood, M, Frary, A, Linger, R, Martin, JM, Papadia, S, Rehnstrom, K, Stark, H, Allsup, D, Austin, S, Bakchoul, T, Bariana, TK, Bolton-Maggs, P, Chalmers, E, Collins, J, Collins, P, Erber, WN, Everington, T, Favier, R, Freson, K, Furie, B, Gattens, M, Gebhart, J, Gomez, K, Greene, D, Greinacher, A, Gresele, P, Hart, D, Heemskerk, JWM, Henskens, Y, Kazmi, R, Keeling, D, Kelly, AM, Lambert, MP, Lentaigne, C, Liesner, R, Makris, M, Mangles, S, Mathias, M, Millar, CM, Mumford, A, Nurden, P, Payne, J, Pasi, J, Peerlinck, K, Revel-Vilk, S

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease von Carss, KJ, Arno, G, Erwood, M, Stephens, J, Sanchis-Juan, A, Hull, S, Megy, K, Grozeva, D, Dewhurst, E, Malka, S, Plagnol, V, Penkett, C, Stirrups, K, Rizzo, R, Wright, G, Josifova, D, Bitner-Glindzicz, M, Scott, RH, Clement, E, Allen, L, Armstrong, R, Brady, AF, Carmichael, J, Chitre, M, Henderson, RHH, Hurst, J, MacLaren, RE, Murphy, E, Paterson, J, Rosser, E, Thompson, DA, Wakeling, E, Ouwehand, WH, Michaelides, M, Moore, AT, NIHR-BioResource Rare Diseases Consortium, Webster, AR, Raymond, FL

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease von Carss, KJ, Arno, G, Erwood, M, Stephens, J, Sanchis-Juan, A, Hull, S, Megy, K, Grozeva, D, Dewhurst, E, Malka, S, Plagnol, V, Penkett, C, Stirrups, K, Rizzo, R, Wright, G, Josifova, D, Bitner-Glindzicz, M, Scott, RH, Clement, E, Allen, L, Armstrong, R, Brady, AF, Carmichael, J, Chitre, M, Henderson, RHH, Hurst, J, MacLaren, RE, Murphy, E, Paterson, J, Rosser, E, Thompson, DA, Wakeling, E, Ouwehand, WH, Michaelides, M, Moore, AT, NIHR-BioResource Rare Diseases Consortium, Webster, AR, Raymond, FL

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