The Rabbit Dorsal Flank Flap von Boustred, A. Mark

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Minimally invasive iliac cancellous bone graft harvesting von BOUSTRED, A. M, FERNANDES, D, VAN ZYL, A. E

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Septic arthritis of the metacarpophalangeal and interphalangeal joints of the hand von Boustred, A M, Singer, M, Hudson, D A, Bolitho, G E

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Local necrotizing skin infections in an HIV patient with porphyria cutanea tarda von Au, Katherine, Boustred, A Mark

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Prelaminated osseointegrated fibula free flap for the repair of a rare congenital maxillary deficiency von GREENSMITH, Andrew L, BOUSTRED, A. Mark, WORTHINGTON, James B, BLAKE, Graeme B

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Septic arthritis of the metacarpophalangeal and interphalangeal joints of the hand. Discussion von BOUSTRED, A. M, SINGER, M, HUDSON, D. A, BOLITHO, G. E, PUCKETT, C. L

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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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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis von Shoemark, Amelia, Griffin, Helen, Wheway, Gabrielle, Hogg, Claire, Lucas, Jane S, Camps, Carme, Taylor, Jenny, Carroll, Mary, Loebinger, Michael R, Chalmers, James D, Morris-Rosendahl, Deborah, Mitchison, Hannah M, De Soyza, Anthony, Brown, D, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, 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

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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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Signatures of TOP1 transcription-associated mutagenesis in cancer and germline von Reijns, Martin A. M., Parry, David A., Williams, Thomas C., Nadeu, Ferran, Hindshaw, Rebecca L., Rios Szwed, Diana O., Nicholson, Michael D., Carroll, Paula, Boyle, Shelagh, Royo, Romina, Cornish, Alex J., Xiang, Hang, Ridout, Kate, Schuh, Anna, Aden, Konrad, Palles, Claire, Campo, Elias, Stankovic, Tatjana, Taylor, Martin S., Jackson, Andrew P.

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Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition von Martins Custodio, Helena, Clayton, Lisa M, Bellampalli, Ravishankara, Pagni, Susanna, Silvennoinen, Katri, Caswell, Richard, Brunklaus, Andreas, Guerrini, Renzo, Koeleman, Bobby P C, Lemke, Johannes R, Møller, Rikke S, Scheffer, Ingrid E, Weckhuysen, Sarah, Zara, Federico, Zuberi, Sameer, Kuchenbaecker, Karoline, Balestrini, Simona, Mills, James D, Sisodiya, Sanjay M

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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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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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Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma von Jones, Christine L., Degasperi, Andrea, Grandi, Vieri, Amarante, Tauanne D., Mitchell, Tracey J., Nik-Zainal, Serena, Whittaker, Sean J.

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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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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 UK10K project identifies rare variants in health and disease von Walter, Klaudia, Min, Josine L, Huang, Jie, Crooks, Lucy, Memari, Yasin, McCarthy, Shane, Perry, John R B, Xu, ChangJiang, Futema, Marta, Lawson, Daniel, Iotchkova, Valentina, Schiffels, Stephan, Hendricks, Audrey E, Danecek, Petr, Li, Rui, Floyd, James, Wain, Louise V, Barroso, Inês, Humphries, Steve E, Hurles, Matthew E, Zeggini, Eleftheria, Barrett, Jeffrey C, Plagnol, Vincent, Richards, J Brent, Greenwood, Celia M T, Timpson, Nicholas J, Durbin, Richard, Soranzo, Nicole

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update von McGuigan, Anthony, Whitworth, James, Andreou, Avgi, Hearn, Timothy, Tischkowitz, Marc, Maher, Eamonn R

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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia von Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, García, Alejandro Cisterna, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Wood, Nick, Hardy, John A, Smedley, Damian, Houlden, Henry, Botía, Juan, Ryten, Mina

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A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project von Seaby, Eleanor G., Leggatt, Gary, Cheng, Guo, Thomas, N. Simon, Ashton, James J., Stafford, Imogen, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah, 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.

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