Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study von Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Smith, Katherine R, McDonagh, Ellen M, Polychronopoulos, Dimitris, Chan, Georgia, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, Morris, Huw, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Twiss, Philip, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Wilson, Gill, Ellard, Sian, Temple, I Karen, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Chinnery, Patrick F, Rendon, Augusto, Eberle, Michael A, Taft, Ryan J, Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Hamblin, Angela, Holman, James, Hubbard, Tim J.P., Jones, Louise J., Kayikci, Melis, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Williams, Eleanor, Zarowiecki, Magdalena

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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas von Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M, Domingo, Enric, Jones, Angela M, Broderick, Peter, Kemp, Zoe, Spain, Sarah L, Guarino, Estrella, Salguero, Israel, Sherborne, Amy, Chubb, Daniel, Carvajal-Carmona, Luis G, Ma, Yusanne, Kaur, Kulvinder, Dobbins, Sara, Barclay, Ella, Gorman, Maggie, Martin, Lynn, Kovac, Michal B, Humphray, Sean, Lucassen, Anneke, Holmes, Christopher C, Bentley, David, Donnelly, Peter, Taylor, Jenny, Petridis, Christos, Roylance, Rebecca, Sawyer, Elinor J, Kerr, David J, Clark, Susan, Grimes, Jonathan, Kearsey, Stephen E, Thomas, Huw J W, McVean, Gilean, Houlston, Richard S, Tomlinson, Ian

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis von Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M

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Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods von Shields, Adrian M, Pagnamenta, Alistair T, Pollard, Andrew J, Taylor, Jenny C, Allroggen, Holger, Patel, Smita Y

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Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden von Cazier, J. -B., Rao, S. R., McLean, C. M., Walker, A. K., Wright, B. J., Jaeger, E. E. M., Kartsonaki, C., Marsden, L., Yau, C., Camps, C., Kaisaki, P., Taylor, J., Catto, J. W., Tomlinson, I. P. M., Kiltie, A. E., Hamdy, F. C.

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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 von COSSINS, Judith, BELAYA, Katsiaryna, LAVAL, Steven, ZAIN SEIDHAMED, Mohammed, DONNELLY, Peter, BENTLEY, David, MCGOWAN, Simon J, MÜLLER, Juliane, PALACE, Jacqueline, LOCHMÜLLER, Hanns, BEESON, David, HICKS, Debbie, SALIH, Mustafa A, FINLAYSON, Sarah, CARBONI, Nicola, WEI WEI LIU, MAXWELL, Susan, ZOLTOWSKA, Katarzyna, TORABI FARSANI, Golara

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Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders von van Schouwenburg, Pauline A, Davenport, Emma E, Kienzler, Anne-Kathrin, Marwah, Ishita, Wright, Benjamin, Lucas, Mary, Malinauskas, Tomas, Martin, Hilary C, Lockstone, Helen E, Cazier, Jean-Baptiste, Chapel, Helen M, Knight, Julian C, Patel, Smita Y

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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability von Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.

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Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I von Babbs, C., Roberts, N. A., Sanchez-Pulido, L., McGowan, S. J., Ahmed, M. R., Brown, J. M., Sabry, M. A., Bentley, D. R., McVean, G. A., Donnelly, P., Gileadi, O., Ponting, C. P., Higgs, D. R., Buckle, V. J.

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Synthesis of bioorthogonal muramyl glycans that illuminate and track bacterial peptidoglycan von DeMeester, Kristen E., Liang, Hai, Jones, Zachary, Taylor, Jenny A., Siegrist, M. Sloan, Salama, Nina R., Leimkuhler‐Grimes, Catherine L.

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Erythrocytosis associated with a novel missense mutation in the BPGM gene von Petousi, Nayia, Copley, Richard R, Lappin, Terence R J, Haggan, Sally E, Bento, Celeste M, Cario, Holger, Percy, Melanie J, Ratcliffe, Peter J, Robbins, Peter A, McMullin, Mary Frances

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Recognition, intervention, and management of antisocial behaviour and conduct disorders in children and young people: summary of NICE-SCIE guidance von Pilling, Stephen, Gould, Nick, Whittington, Craig, Taylor, Clare, Scott, Stephen

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Inherited cardiovascular conditions: the challenges of genomic medicine von Burton, H, Alberg, C, Hall, A, Sagoo, G S, Stewart, A

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Diarrhoea and vomiting caused by gastroenteritis in children under 5 years: summary of NICE guidance von Khanna, Rajesh, Lakhanpaul, Monica, Burman-Roy, Shona, Murphy, M Stephen

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Collin's career and the visual arts von Dolin, Tim

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Distinct cytoskeletal proteins define zones of enhanced cell wall synthesis in Helicobacter pylori von Taylor, Jenny A, Bratton, Benjamin P, Sichel, Sophie R, Blair, Kris M, Jacobs, Holly M, DeMeester, Kristen E, Kuru, Erkin, Gray, Joe, Biboy, Jacob, VanNieuwenhze, Michael S, Vollmer, Waldemar, Grimes, Catherine L, Shaevitz, Joshua W, Salama, Nina R

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Patient-reported pain and physical health for acupuncture and chiropractic care delivered by Veterans Affairs versus community providers von O'Hanlon, Claire E, Zeliadt, Steven B, DeFaccio, Rian, Gaj, Lauren, Bokhour, Barbara G, Taylor, Stephanie L

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School-Age Children Are a Reservoir of Malaria Infection in Malawi von Walldorf, Jenny A, Cohee, Lauren M, Coalson, Jenna E, Bauleni, Andy, Nkanaunena, Kondwani, Kapito-Tembo, Atupele, Seydel, Karl B, Ali, Doreen, Mathanga, Don, Taylor, Terrie E, Valim, Clarissa, Laufer, Miriam K

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Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature von Schwarze, Katharina, Buchanan, James, Taylor, Jenny C, Wordsworth, Sarah

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Abundance, fate, and effects of pharmaceuticals and personal care products in aquatic environments von Adeleye, Adeyemi S., Xue, Jie, Zhao, Yixin, Taylor, Alicia A., Zenobio, Jenny E., Sun, Yian, Han, Ziwei, Salawu, Omobayo A., Zhu, Yurong

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