Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria von Andoni, Tala, Wiggins, Jennifer, Robinson, Rachel, Charlton, Ruth, Sandberg, Michael, Eeles, Rosalind

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Screening of potential novel candidate genes in schwannomatosis patients von Perez‐Becerril, Cristina, Wallace, Andrew J., Schlecht, Helene, Bowers, Naomi L., Smith, Philip T., Gokhale, Carolyn, Eaton, Helen, Charlton, Chris, Robinson, Rachel, Charlton, Ruth S., Evans, D. Gareth, Smith, Miriam J.

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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping von Watson, Christopher M, Crinnion, Laura A, Berry, Ian R, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Charlton, Ruth S, Dobbie, Angus, Carr, Ian M, Bonthron, David T

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Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface von Watson, Christopher M., Crinnion, Laura A., Morgan, Joanne E., Harrison, Sally M., Diggle, Christine P., Adlard, Julian, Lindsay, Helen A., Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T., Taylor, Graham R., Carr, Ian M.

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Three-year follow-up of a randomised clinical trial of intravenous versus oral iron for anaemia in pregnancy von Khalafallah, Alhossain A, Dennis, Amanda E, Ogden, Kath, Robertson, Iain, Charlton, Ruth H, Bellette, Jackie M, Shady, Jessica L, Blesingk, Nep, Ball, Madeleine

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Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing von Watson, Christopher M, El-Asrag, Mohammed, Parry, David A, Morgan, Joanne E, Logan, Clare V, Carr, Ian M, Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A, Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F, Ali, Manir

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Extensive gene conversion at the PMS2 DNA mismatch repair locus von Hayward, Bruce E., De Vos, Michel, Valleley, Elizabeth M.A., Charlton, Ruth S., Taylor, Graham R., Sheridan, Eamonn, Bonthron, David T.

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Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss von Yoong, Soo Y, Mavrogiannis, Lampros A, Wright, John, Fairley, Lesley, Bennett, Christopher P, Charlton, Ruth S, Spencer, Nick

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The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians von Searle, Claire, Mavrogiannis, Lampros A, Bennett, Christopher P, Charlton, Ruth S

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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel von Huang, Jie, Howie, Bryan, McCarthy, Shane, Memari, Yasin, Walter, Klaudia, Min, Josine L., Danecek, Petr, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hou-Feng, Gambaro, Giovanni, Richards, J. Brent, Durbin, Richard, Timpson, Nicholas J., Marchini, Jonathan, Soranzo, Nicole

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Temporal trends in the epidemiology of childhood severe visual impairment and blindness in the UK von Teoh, Lucinda J, Adams, Gill, Allen, Louise, Anderson, Christopher, Anwar, Samira, Ash, Isabel, Astagi, Majunath, Balu, Rajesh, Bassi, Zahabiyah, Bates, Adam, Belmour, Linda, Benzimra, James, Blaikie, Andrew, Bolton, Kate, Bos, Ewoud, Bowman, Richard, Bredow, Maria, Butcher, Jeremy, Cane, Clare, Chadwick, Cathryn, Charlton, Ruth, Choi, Jessy, Clifford, Luke, Cox, Rachel, Dattani, Mehul, Dean, Fiona, Devlin, Anita, Dhir, Luna, Doherty, Cora, Dorey, Suzanne, Eaton, Megan, Eckersley, Danielle, Great, Clive Edelsten, Elderkin, Rachel, Ennis, Julia, Escardo-Paton, Julia, Etuwewe, Onajite, Ezekwe, Adjoa, Ferguson, Allison, Galloway, Alexandra, Gibson, Patricia, Goss, Kevin, Graham-Evans, Katherine, Gray, Judith, Guy, Emma, Haddad, Diab, Harris, Sian, Harvey, Phillip, Heath, Dominic, Holden, Roger, Hoole, Janice, Howard, Delyth, Joseph, Annie, Khaw, Peng, Leitch, Jane, Lomas, Tom, MacRae, Mary, Mahmood, Usman, Maling, Sarah, Marr, Jane, Marsh, Catherine, McCartney, Eleanor, McPhee, Derek, Moore, Helen, Nair, Ranjit, Nitsch, Christiane, Palmer, Helen, Papadopoulos, Maria, Parkinson, Shelagh, Parulekar, Manoj, Pennefather, Philippa, Pierrepoint, Marcus, Pollard, Sally, Raina, Jyoti, Ramm, Laura, Rao, Tekki, Reilly, Sheilla, Riordan, Andrew, Roberts, Nerys, Sarvananthan, Nagini, Schmoll, Conrad, Smit, Elisa, Smyth, Katherine, Standring, P, Stanley, Alison, Stanton, Alan, Street, Jessica, Tappin, Alison, Taylor, Kate, Thomas, Megan, Thomson, Stephen, Tillett, Angela, Venkatesh, Udupa, Vermaak, Zoe, Walker, David, Walsh, Deidre, Walters, Bronwyn, Ward, Martin, Wong, Chien, Wright, Paul

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Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity von Hendricks, Audrey E., Bochukova, Elena G., Marenne, Gaëlle, Keogh, Julia M., Atanassova, Neli, Bounds, Rebecca, Wheeler, Eleanor, Mistry, Vanisha, Henning, Elana, Körner, Antje, Muddyman, Dawn, McCarthy, Shane, Hinney, Anke, Hebebrand, Johannes, Scott, Robert A., Langenberg, Claudia, Wareham, Nick J., Surendran, Praveen, Howson, Joanna M., Butterworth, Adam S., Danesh, John, Nordestgaard, Børge G, Nielsen, Sune F, Afzal, Shoaib, Papadia, Sofia, Ashford, Sofie, Garg, Sumedha, Millhauser, Glenn L., Palomino, Rafael I., Kwasniewska, Alexandra, Tachmazidou, Ioanna, O’Rahilly, Stephen, Zeggini, Eleftheria, Barroso, Inês, Farooqi, I. Sadaf

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Low-frequency variation in TP53 has large effects on head circumference and intracranial volume von Haworth, Simon, Shapland, Chin Yang, Hayward, Caroline, Prins, Bram P., Felix, Janine F., Medina-Gomez, Carolina, Rivadeneira, Fernando, Wang, Carol, Ahluwalia, Tarunveer S., Vrijheid, Martine, Guxens, Mònica, Sunyer, Jordi, Tachmazidou, Ioanna, Walter, Klaudia, Iotchkova, Valentina, Jackson, Andrew, Cleal, Louise, Huffmann, Jennifer, Min, Josine L., Sass, Lærke, Timmers, Paul R. H. J., Davey Smith, George, Fisher, Simon E., Wilson, James F., Cole, Tim J., Fernandez-Orth, Dietmar, Bønnelykke, Klaus, Bisgaard, Hans, Pennell, Craig E., Jaddoe, Vincent W. V., Dedoussis, George, Timpson, Nicholas, Zeggini, Eleftheria, Vitart, Veronique, St Pourcain, Beate

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Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome von Whitehouse, Laura L. E., Smith, Claire E. L., Poulter, James A., Brown, Catriona J., Patel, Anesha, Lamb, Teresa, Brown, Lucy R., O’Sullivan, Elizabeth A., Mitchell, Rowena E., Berry, Ian R., Charlton, Ruth, Inglehearn, Chris F., Mighell, Alan J.

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Characterization and Genomic Localization of a SMAD4 Processed Pseudogene von Watson, Christopher M., Camm, Nick, Crinnion, Laura A., Antanaviciute, Agne, Adlard, Julian, Markham, Alexander F., Carr, Ian M., Charlton, Ruth, Bonthron, David T.

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Histopathology of melanocytic lesions in a family with an inherited BAP1 mutation von O'Shea, Sally J., Mitra, Angana, Graham, Jennifer L., Charlton, Ruth, Adlard, Julian, Merchant, Will, Newton-Bishop, Julia A.

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Innovative recruitment and clinical orientation programme to manage NHS junior doctor shortfall: A district hospital experience von Quadery, Syed Rehan, Roodbari, Hamid, Pardeshi, Pradeep, Shah, Dilip, Ahmed, Hira, Jain, Seema, Saridis, Jason, Rahman, Shakil, Ratnasingam, Nithiyananthan, Ebdon, Caroline, Bogle, Richard, Marsh, James, Charlton, Ruth, Lim, Guan, Makanjoula, David, Camp, Daniel, Winn, Simon

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GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms von Carr, Ian M, Camm, Nick, Taylor, Graham R, Charlton, Ruth, Ellard, Sian, Sheridan, Eamonn G, Markham, Alexander F, Bonthron, David T

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Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads von Watson, Christopher M., Camm, Nick, Crinnion, Laura A., Clokie, Samuel, Robinson, Rachel L., Adlard, Julian, Charlton, Ruth, Markham, Alexander F., Carr, Ian M., Bonthron, David T.

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PMS2 Mutations in Childhood Cancer von De Vos, Michel, Hayward, Bruce E., Charlton, Ruth, Taylor, Graham R., Glaser, Adam W., Picton, Susan, Cole, Trevor R., Maher, Eamonn R., McKeown, Carole M. E., Mann, Jill R., Yates, John R., Baralle, Diana, Rankin, Julia, Bonthron, David T., Sheridan, Eamonn

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