Achievement for All national evaluation: Interim report von Humphrey, N, Squires, G, Barlow, A, Bulman, W. F. L, Kalambouka, A, Hebron, J. S, Lendrum, A, Oldfield, J, Wigelsworth, Michael, Wo, L. Y

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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care von Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.

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N -Acyloxymethyl-phthalimides deliver genotoxic formaldehyde to human cells von Emms, Vicki L, Lewis, Liam A, Beja, Lilla, Bulman, Natasha F A, Pires, Elisabete, Muskett, Frederick W, McCullagh, James S O, Swift, Lonnie P, McHugh, Peter J, Hopkinson, Richard J

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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly von Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

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Effect of Endobronchial Coils vs Usual Care on Exercise Tolerance in Patients With Severe Emphysema: The RENEW Randomized Clinical Trial von Sciurba, Frank C, Criner, Gerard J, Strange, Charlie, Shah, Pallav L, Michaud, Gaetane, Connolly, Timothy A, Deslée, Gaëtan, Tillis, William P, Delage, Antoine, Marquette, Charles-Hugo, Krishna, Ganesh, Kalhan, Ravi, Ferguson, J. Scott, Jantz, Michael, Maldonado, Fabien, McKenna, Robert, Majid, Adnan, Rai, Navdeep, Gay, Steven, Dransfield, Mark T, Angel, Luis, Maxfield, Roger, Herth, Felix J. F, Wahidi, Momen M, Mehta, Atul, Slebos, Dirk-Jan

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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project von Beaulieu, Chandree L., Majewski, Jacek, Schwartzentruber, Jeremy, Samuels, Mark E., Fernandez, Bridget A., Bernier, Francois P., Brudno, Michael, Knoppers, Bartha, Marcadier, Janet, Dyment, David, Adam, Shelin, Bulman, Dennis E., Jones, Steve J.M., Avard, Denise, Nguyen, Minh Thu, Rousseau, Francois, Marshall, Christian, Wintle, Richard F., Shen, Yaoqing, Scherer, Stephen W., Friedman, Jan M., Michaud, Jacques L., Boycott, Kym M.

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Germline mutations in RAD51D confer susceptibility to ovarian cancer von Loveday, Chey, Turnbull, Clare, Ramsay, Emma, Hughes, Deborah, Ruark, Elise, Frankum, Jessica R, Bowden, Georgina, Kalmyrzaev, Bolot, Warren-Perry, Margaret, Snape, Katie, Adlard, Julian W, Barwell, Julian, Berg, Jonathan, Brady, Angela F, Brewer, Carole, Brice, Glen, Chapman, Cyril, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Douglas, Fiona, Greenhalgh, Lynn, Henderson, Alex, Izatt, Louise, Kumar, Ajith, Lalloo, Fiona, Miedzybrodzka, Zosia, Morrison, Patrick J, Paterson, Joan, Porteous, Mary, Rogers, Mark T, Shanley, Susan, Walker, Lisa, Eccles, Diana, Evans, D Gareth, Renwick, Anthony, Seal, Sheila, Lord, Christopher J, Ashworth, Alan, Reis-Filho, Jorge S, Antoniou, Antonis C, Rahman, Nazneen

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A vision for the future conservation evidence landscape von O'Connell, M. J., White, R. L., Haysom, K. A., Seo, M., Dooner, P., Macadam, C., Plowman, A., Bulman, C. R., Hayns, S., Nason, M., Groves, L., Orr, H. G., Meakin, K., Dagley, J., Stringer, A., Smart, A., Hynes, J., Stone, D., Hails, R. S., Webb, J., Hutchinson, N., Higgins, S., Wilson, J. D., Burns, F., Robinson, S. L., Doar, N., Smith, R. K., Sutherland, W. J., Rogers, L., Jackson, H. A.

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Multicenter Study Demonstrates Standardization Requirements for Mold Identification by MALDI-TOF MS von Lau, Anna F, Walchak, Robert C, Miller, Heather B, Slechta, E Susan, Kamboj, Kamal, Riebe, Katherine, Robertson, Amy E, Gilbreath, Jeremy J, Mitchell, Kaitlin F, Wallace, Meghan A, Bryson, Alexandra L, Balada-Llasat, Joan-Miquel, Bulman, Amanda, Buchan, Blake W, Burnham, Carey-Ann D, Butler-Wu, Susan, Desai, Uma, Doern, Christopher D, Hanson, Kimberly E, Henderson, Christina M, Kostrzewa, Markus, Ledeboer, Nathan A, Maier, Thomas, Pancholi, Preeti, Schuetz, Audrey N, Shi, Gongyi, Wengenack, Nancy L, Zhang, Sean X, Zelazny, Adrian M, Frank, Karen M

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Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial von Burn, John, Prof Sir, Gerdes, Anne-Marie, Prof, Macrae, Finlay, Prof, Mecklin, Jukka-Pekka, Prof, Moeslein, Gabriela, MD, Olschwang, Sylviane, MD, Eccles, Diane, Prof, Evans, D Gareth, Prof, Maher, Eamonn R, Prof, Bertario, Lucio, MD, Bisgaard, Marie-Luise, MD, Dunlop, Malcolm G, Prof, Ho, Judy WC, MD, Hodgson, Shirley V, Prof, Lindblom, Annika, Prof, Lubinski, Jan, Prof, Morrison, Patrick J, Prof, Murday, Victoria, MD, Ramesar, Raj, Prof, Side, Lucy, MD, Scott, Rodney J, Prof, Thomas, Huw JW, Prof, Vasen, Hans F, Prof, Barker, Gail, Crawford, Gillian, Elliott, Faye, Movahedi, Mohammad, PhD, Pylvanainen, Kirsi, Wijnen, Juul T, PhD, Fodde, Riccardo, Prof, Lynch, Henry T, Prof, Mathers, John C, Prof, Bishop, D Timothy, Prof

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Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome von Burn, John, Bishop, D. Timothy, Mecklin, Jukka-Pekka, Macrae, Finlay, Möslein, Gabriela, Olschwang, Sylviane, Bisgaard, Marie-Luise, Ramesar, Raj, Eccles, Diana, Maher, Eamonn R, Bertario, Lucio, Jarvinen, Heikki J, Lindblom, Annika, Evans, D. Gareth, Lubinski, Jan, Morrison, Patrick J, Ho, Judy W.C, Vasen, Hans F.A, Side, Lucy, Thomas, Huw J.W, Scott, Rodney J, Dunlop, Malcolm, Barker, Gail, Elliott, Faye, Jass, Jeremy R, Fodde, Ricardo, Lynch, Henry T, Mathers, John C

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Bronchoscopic lung-volume reduction with Exhale airway stents for emphysema (EASE trial): randomised, sham-controlled, multicentre trial von Shah, PL, Dr, Slebos, D-J, MD, Cardoso, PFG, MD, Cetti, E, MA, Voelker, K, MD, Levine, B, MD, Russell, ME, MD, Goldin, J, MD, Brown, M, PhD, Cooper, JD, MD, Sybrecht, GW, Prof

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A novel sodium channel mutation in a family with hypokalemic periodic paralysis von BULMAN, D. E, SCOGGAN, K. A, VAN OENE, M. D, NICOLLE, M. W, HAHN, A. F, TOLLAR, L. L, EBERS, G. C

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Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes von Loveday, C., Garrett, A., Hanks, S., Berg, J., Brady, A.F., Cook, J., Donaldson, A., Douglas, F., Greenhalgh, L., Miedzybrodzka, Z., Morrison, P.J., Paterson, J., Ahmed, M., Bardsley, C., Barton, D., Bartlett, M., Baxter, L., Belk, R., Berg, J., Brant, S., Brewer, C., Brice, G., Brooks, C., Campbell, J., Castle, B., Cole, T., Collins, A., Cruger, D., Cummings, C., Davidson, R., Day, L., Dolling, C., Douglas, F., Drummond, S., Edwards, M., Edwards, E., Edwardson, J., Elmslie, F., Evans, G., Ghali, N., Greenhalgh, L., Henderson, A., Hodgson, S., Houlston, R.S., Hunt, V., Izatt, L., Jacobs, C., Jobson, I., Kennedy, M.J., Kightley, C., Kohut, K., Kumar, A., Levene, S., Logan, P., Magee, A., Mansour, S., McBride, D., McEntagart, M., McKeown, C., McLeod, D., Melville, A., Miedzybrodzka, Z., Murday, V., Myhill, K., Myring, J., Pearson, P., Pichert, G., Platt, K., Porteous, M., Protheroe, L., Pugh, S., Randhawa, K., Riddick, C., Robertson, L., Robinson, A., Rowe, S., Schofield, A., Scott, G., Sharif, S., Shaw, A., Shaw, J., Shea-Simonds, J., Side, L., Simon, K., Slater, S., Smith, K., Soloway, J., Steel, M., Stewart, H., Thomas, M., Turner, H., Wakeling, E., Watt, C., Watts, S., Whyte, C., Eccles, D., Evans, D.G., Hanson, H., Houlston, R.S., Turnbull, C.

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Predictors of Response to Endobronchial Coil Therapy in Patients With Advanced Emphysema von Slebos, Dirk-Jan, Sciurba, Frank C., Deslée, Gaëtan, Delage, Antoine, Mehta, Atul C., Shah, Pallav L., Herth, F.J.F., Gompelmann, D., Schuhmann, M., Eberhardt, R., Rump, B., Slebos, D.J., Ten Hacken, N., Klooster, K., Hartman, J.E., Augustijn, S., McNulty, W., Garner, J., Dury, S., Gras, D., Marquette, C.H., Sanfiorenzo, C., Clary, C., Leheron, C., Arfi, T., Leroy, S., Argula, R., Huggins, J.T., Pastis, N., Woodford, D., Walker, D., Criner, G., Marchetti, N., Garfield, J.L., Maxfield, R., Gillespie, C.T., Rogowski, A.S., Angel, L.F., Dib, O., Chandra, D., Crespo, M., Tedrow, J. Rahul, Beckner, M., Majid, A., Cardenas-Garcia, J., Beach, D., Agnew, A., Nathanson, A., Hartwig, M., Smathers, E., Tillis, W., Verma, K., Chittivelu, S., Doloszycki, P., Michel, J., Kopas, L., Krimsky, W., King, S., Mehta, A., Machuzak, M., Meli, Y.M., Baran, J., Rice, R., Faile, D., Kahlstrom, R., Haroon, A., White, F., Moore, B., Soukiasian, H., Merry, H., Mosenifar, Z., Balfe, D., Kanne, J., Sonetti, D., Maloney, J., Hackbarth, M., Gilles, M., Maser, A., Puchalski, J.T., Johnson, K., Dabre, Z., Kovitz, K., Joo, M., DeLisa, J., Krishna, G., Marfatia, A., Utz, J., Kern, R., Edell, E.S., Meldrum, C., Jantz, M., Eagan, C., Delage, A., LeBlanc, P., Lampron, N., Laberge, F., Milot, J., Breton, M.J., Dransfield, M., Seabron-Harris, E.N.

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Acyloxymethyl-phthalimides deliver genotoxic formaldehyde to human cells von Emms, Vicki L, Lewis, Liam A, Beja, Lilla, Bulman, Natasha F. A, Pires, Elisabete, Muskett, Frederick W, McCullagh, James S. O, Swift, Lonnie. P, McHugh, Peter J, Hopkinson, Richard J

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The UK Standardisation of Breast Radiotherapy (START) Trial B of radiotherapy hypofractionation for treatment of early breast cancer: a randomised trial von Bentzen, S M, Agrawal, R K, Aird, E G A, Barrett, J M, Barrett-Lee, P J, Bliss, J M, Brown, J, Dewar, J A, Dobbs, H J, Haviland, J S, Hoskin, P J, Hopwood, P, Lawton, P A, Magee, B J, Mills, J, Morgan, D A L, Owen, J R, Simmons, S, Sumo, G, Sydenham, M A, Venables, K, Yarnold, J R

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BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years von Robertson, L, Hanson, H, Seal, S, Warren-Perry, M, Hughes, D, Howell, I, Turnbull, C, Houlston, R, Shanley, S, Butler, S, Evans, D G, Ross, G, Eccles, D, Tutt, A, Rahman, N

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Endobronchial coils for emphysema: Dual mechanism of action on lobar residual volume reduction von Hartman, Jorine E., Herth, Felix J.F., Slebos, Dirk‐Jan, Herth, F.J.F., Eberhardt, R., Rump, B., Slebos, D.J., Klooster, K., Hartman, J.E., Augustijn, S., McNulty, W., Garner, J., Vallerand, H., Dury, S., Gras, D., Sanfiorenzo, C., Leheron, C., Korzeniewski, S., Wolter, P., Arfi, T., Macone, F., Leroy, S., Griffonet, J., Strange, C., Argula, R., Huggins, J.T., Pastis, N., Woodford, D., Walker, D., Marchetti, N., Garfield, J.L., Srivastava‐Malhotra, S., Tauch, V., Maxfield, R., Brenner, K., DeCamp, M. McAvoy, Rogowski, A.S., Angel, L.F., Dib, O., Chandra, D., Tedrow, J. Rahul, Beckner, M., Cardenas‐Garcia, J., Beach, D., Nathanson, A., Smathers, E., Taneja, D., Chittivelu, S., Aulakh, B., Michel, J., Crabb, J., Gregoire, F., King, S., Mehta, A., Almeida, F., Machuzak, M., Meli, Y.M., Baran, J., Rice, R., Faile, D., Jensen, K., Kahlstrom, R., Ionita, R., Moore, B., Merry, H., Ghandehari, S., Balfe, D., Ferguson, J.S., Sonetti, D., Maloney, J., Hackbarth, M., Maser, A., Rochester, C., Johnson, K., Dabre, Z., Kovitz, K., Joo, M., Krishna, G., Canfield, J., Utz, J., Kern, R., Gay, S., Han, M. King, Sagana, R.L., Nelson, K., Meldrum, C., Jantz, M., Eagan, C., Delage, A., Martel, S., LeBlanc, P., Maltais, F., Lampron, N., Laberge, F., Milot, J., Picard, J., Breton, M.J., Wells, J.M., Bhatt, S., Smith, P.

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Gene-gene interactions in breast cancer susceptibility von Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Warren-Perry, Margaret, Hughes, Deborah, Elliott, Anna, Pernet, David, Peock, Susan, Adlard, Julian W., Barwell, Julian, Berg, Jonathan, Brady, Angela F., Brewer, Carole, Brice, Glen, Chapman, Cyril, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Douglas, Fiona, Greenhalgh, Lynn, Henderson, Alex, Izatt, Louise, Kumar, Ajith, Lalloo, Fiona, Miedzybrodzka, Zosia, Morrison, Patrick J, Paterson, Joan, Porteous, Mary, Rogers, Mark T., Shanley, Susan, Walker, Lisa, Ahmed, Munaza, Eccles, Diana, Evans, D. Gareth, Donnelly, Peter, Easton, Douglas F., Stratton, Michael R., Rahman, Nazneen

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