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191 results on '"Tomkins S"'

1. De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Author

Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., and van Haeringen, A.

Published
2019
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2. Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

Author

Loveday, C., primary, Garrett, A., additional, Law, P., additional, Hanks, S., additional, Poyastro-Pearson, E., additional, Adlard, J.W., additional, Barwell, J., additional, Berg, J., additional, Brady, A.F., additional, Brewer, C., additional, Chapman, C., additional, Cook, J., additional, Davidson, R., additional, Donaldson, A., additional, Douglas, F., additional, Greenhalgh, L., additional, Henderson, A., additional, Izatt, L., additional, Kumar, A., additional, Lalloo, F., additional, Miedzybrodzka, Z., additional, Morrison, P.J., additional, Paterson, J., additional, Porteous, M., additional, Rogers, M.T., additional, Walker, L., additional, Eccles, D., additional, Evans, D.G., additional, Snape, K., additional, Hanson, H., additional, Houlston, R.S., additional, Turnbull, C., additional, Ardern-Jones, A., additional, Adlard, J., additional, Ahmed, M., additional, Attard, G., additional, Bailey, K., additional, Bancroft, E., additional, Bardsley, C., additional, Barton, D., additional, Bartlett, M., additional, Baxter, L., additional, Belk, R., additional, Bernhard, B., additional, Bishop, T., additional, Boyes, L., additional, Bradshaw, N., additional, Brant, S., additional, Brice, G., additional, Bromilow, G., additional, Brooks, C., additional, Bruce, A., additional, Bulman, B., additional, Burgess, L., additional, Campbell, J., additional, Canham, N., additional, Castle, B., additional, Cetnarskyj, R., additional, Claber, O., additional, Coates, N., additional, Cole, T., additional, Collins, A., additional, Coulson, S., additional, Crawford, G., additional, Cruger, D., additional, Cummings, C., additional, D’Mello, L., additional, Day, L., additional, Dell, B., additional, Dolling, C., additional, Dorkins, H., additional, Downing, S., additional, Drummond, S., additional, Dubras, C., additional, Dunlop, J., additional, Durrell, S., additional, Eddy, C., additional, Edwards, M., additional, Edwards, E., additional, Edwardson, J., additional, Eeles, R., additional, Ellis, I., additional, Elmslie, F., additional, Evans, G., additional, Gibbons, B., additional, Gardiner, C., additional, Ghali, N., additional, Giblin, C., additional, Gibson, S., additional, Goff, S., additional, Goodman, S., additional, Goudie, D., additional, Grier, J., additional, Gregory, H., additional, Halliday, S., additional, Hardy, R., additional, Hartigan, C., additional, Heaton, T., additional, Higgins, C., additional, Hodgson, S., additional, Homfray, T., additional, Horrigan, D., additional, Houghton, C., additional, Hughes, L., additional, Hunt, V., additional, Irvine, L., additional, Jacobs, C., additional, James, S., additional, James, M., additional, Jeffers, L., additional, Jobson, I., additional, Jones, W., additional, Kennedy, M.J., additional, Kenwrick, S., additional, Kightley, C., additional, Kirk, C., additional, Kirk, E., additional, Kivuva, E., additional, Kohut, K., additional, Kosicka-Slawinska, M., additional, Kulkarni, A., additional, Lambord, N., additional, Langman, C., additional, Leonard, P., additional, Levene, S., additional, Locker, S., additional, Logan, P., additional, Longmuir, M., additional, Lucassen, A., additional, Lyus, V., additional, Magee, A., additional, Male, A., additional, Mansour, S., additional, McBride, D., additional, McCann, E., additional, McConnell, V., additional, McEntagart, M., additional, McKeown, C., additional, McLeish, L., additional, McLeod, D., additional, Melville, A., additional, Mercer, L., additional, Mercer, C., additional, Mitra, A., additional, Murday, V., additional, Murray, A., additional, Myhill, K., additional, Myring, J., additional, O'Hara, E., additional, Pearson, P., additional, Pichert, G., additional, Platt, K., additional, Pottinger, C., additional, Price, S., additional, Protheroe, L., additional, Pugh, S., additional, Quarrell, O., additional, Randhawa, K., additional, Riddick, C., additional, Robertson, L., additional, Robinson, A., additional, Roffey-Johnson, V., additional, Rogers, M., additional, Rose, S., additional, Rowe, S., additional, Schofield, A., additional, Rahman, N., additional, Saya, S., additional, Scott, G., additional, Scott, J., additional, Searle, A., additional, Shanley, S., additional, Sharif, S., additional, Shaw, A., additional, Shaw, J., additional, Shea-Simonds, J., additional, Side, L., additional, Sillibourne, J., additional, Simon, K., additional, Simpson, S., additional, Slater, S., additional, Smalley, S., additional, Smith, K., additional, Snadden, L., additional, Soloway, J., additional, Stait, Y., additional, Stayner, B., additional, Steel, M., additional, Steel, C., additional, Stewart, H., additional, Stirling, D., additional, Thomas, M., additional, Thomas, S., additional, Tomkins, S., additional, Turner, H., additional, Vandersteen, A., additional, Wakeling, E., additional, Waldrup, F., additional, Watt, C., additional, Watts, S., additional, Webber, A., additional, Whyte, C., additional, Wiggins, J., additional, Williams, E., additional, and Winchester, L., additional

Published
2022
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6. Same data, different conclusions: Radical dispersion in empirical results when independent analysts operationalize and test the same hypothesis

Author

Schweinsberg, M., Feldman, M., Staub, N., van den Akker, O.R., van Aert, R.C.M., van Assen, M.A.L.M., Liu, Y., Althoff, T., Heer, J., Kale, A., Mohamed, Z., Amireh, H., Venkatesh Prasad, V., Bernstein, A., Robinson, E., Snellman, K., Sommer, S.A., Otner, S.M.G., Robinson, D.A., Madan, N., Silberzahn, R., Goldstein, P., Tierney, W., Murase, T., Mandl, B., Viganola, D., Strobl, C., Schaumans, C.B.C., Kelchtermans, S., Naseeb, C., Mason Garrison, S., Yarkoni, T., Richard Chan, C. S., Adie, P., Alaburda, P., Albers, C., Alspaugh, S., Alstott, J., Nelson, A.A., Ariño de la Rubia, E., Arzi, A., Bahník, Š., Baik, J., Winther Balling, L., Banker, S., Baranger, D.A.A., Barr, D.J., Barros-Rivera, B., Bauer, M., Blaise, E., Boelen, L., Bohle Carbonell, K., Briers, R.A., Burkhard, O., Canela, M.A., Castrillo, L., Catlett, T., Chen, O., Clark, M., Cohn, B., Coppock, A., Cugueró-Escofet, N., Curran, P.G., Cyrus-Lai, W., Dai, D., Valentino Dalla Riva, G., Danielsson, H., Russo, R.d.F.S.M., de Silva, N., Derungs, C., Dondelinger, F., Duarte de Souza, C., Tyson Dube, B., Dubova, M., Dunn, B.M., Edelsbrunner, P.A., Finley, S., Fox, N., Gnambs, T., Gong, Y., Grand, E., Greenawalt, B., Han, D., Hanel, P.H.P., Hong, A.B., Hood, D., Hsueh, J., Huang, L., Hui, K.N., Hultman, K.A., Javaid, A., Ji Jiang, L., Jong, J., Kamdar, J., Kane, D., Kappler, G., Kaszubowski, E., Kavanagh, C.M., Khabsa, M., Kleinberg, B., Kouros, J., Krause, H., Krypotos, A.M., Lavbič, D., Ling Lee, R., Leffel, T., Yang Lim, W., Liverani, S., Loh, B., Lønsmann, D., Wei Low, J., Lu, A., MacDonald, K., Madan, C.R., Hjorth Madsen, L., Maimone, C., Mangold, A., Marshall, A., Matskewich, H.E., Mavon, K., McLain, K.L., McNamara, A.A., McNeill, M., Mertens, U., Miller, D., Moore, B., Moore, A., Nantz, E., Nasrullah, Z., Nejkovic, V., Nell, C.S., Nilsonne, G., Nolan, R., O'Brien, C.E., O'Neill, P., O'Shea, K., Olita, T., Otterbacher, J., Palsetia, D., Pereira, B., Pozdniakov, I., Protzko, J., Reyt, J.N., Riddle, T., (Akmal) Ridhwan Omar Ali, A., Ropovik, I., Rosenberg, J.M., Rothen, S., Schulte-Mecklenbeck, M., Sharma, N., Shotwell, G., Skarzynski, M., Stedden, W., Stodden, V., Stoffel, M.A., Stoltzman, S., Subbaiah, S., Tatman, R., Thibodeau, P.H., Tomkins, S., Valdivia, A., Druijff-van de Woestijne, G.B., Viana, L., Villesèche, F., Wadsworth, W.D., Wanders, F., Watts, K., Wells, J.D., Whelpley, C.E., Won, A., Wu, L., Yip, A., Youngflesh, C., Yu, J.C., Zandian, A., Zhang, L., Zibman, C., Uhlmann, E.L., Social Networks, Solidarity and Inequality, Leerstoel Buskens, Structural geology and EM, Experimental psychopathology, Leerstoel Engelhard, Department of Methodology and Statistics, Tilburg Experience Sampling Center (TESC), University of Zurich, Schweinsberg, Martin, Psychometrics and Statistics, Social Networks, Solidarity and Inequality, Leerstoel Buskens, Structural geology and EM, Experimental psychopathology, and Leerstoel Engelhard

Subjects
Organizational Behavior and Human Resource Management, TRANSPARENCY, 10009 Department of Informatics, Sample (statistics), 000 Computer science, knowledge & systems, 1407 Organizational Behavior and Human Resource Management, Scientific robustness, 3202 Applied Psychology, Scientific transparency, REPRODUCIBILITY, 650 Management & public relations, medicine, Econometrics, MANAGEMENT, QUALITY, business, Robustness (economics), Research question, Verbosity, CRISIS, Applied Psychology, Analysis-contingent results, Operationalization, Psykologi (exklusive tillämpad psykologi), 11476 Digital Society Initiative, AVAILABILITY, Researcher degrees of freedom, SCIENCE, cs_r, SOCIAL-PSYCHOLOGY, Crowdsourcing data analysis, Research reliability, Psychology (excluding Applied Psychology), Open data, Ranking, Transparency (graphic), REPLICABILITY, REPLICATION, medicine.symptom, Psychology
Abstract

The project was funded by a research grant from INSEAD and was also supported by the Swiss National Science Foundation under grant number 143411., In this crowdsourced initiative, independent analysts used the same dataset to test two hypotheses regarding the effects of scientists’ gender and professional status on verbosity during group meetings. Not only the analytic approach but also the operationalizations of key variables were left unconstrained and up to individual analysts. For instance, analysts could choose to operationalize status as job title, institutional ranking, citation counts, or some combination. To maximize transparency regarding the process by which analytic choices are made, the analysts used a platform we developed called DataExplained to justify both preferred and rejected analytic paths in real time. Analyses lacking sufficient detail, reproducible code, or with statistical errors were excluded, resulting in 29 analyses in the final sample. Researchers reported radically different analyses and dispersed empirical outcomes, in a number of cases obtaining significant effects in opposite directions for the same research question. A Boba multiverse analysis demonstrates that decisions about how to operationalize variables explain variability in outcomes above and beyond statistical choices (e.g., covariates). Subjective researcher decisions play a critical role in driving the reported empirical results, underscoring the need for open data, systematic robustness checks, and transparency regarding both analytic paths taken and not taken. Implications for organizations and leaders, whose decision making relies in part on scientific findings, consulting reports, and internal analyses by data scientists, are discussed., INSEAD, Swiss National Science Foundation (SNSF) European Commission 143411

Published
2021
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7. Same data, different conclusions: Radical dispersion in empirical results when independent analysts operationalize and test the same hypothesis

Author

Social Networks, Solidarity and Inequality, Leerstoel Buskens, Structural geology and EM, Experimental psychopathology, Leerstoel Engelhard, Schweinsberg, M., Feldman, M., Staub, N., van den Akker, O.R., van Aert, R.C.M., van Assen, M.A.L.M., Liu, Y., Althoff, T., Heer, J., Kale, A., Mohamed, Z., Amireh, H., Venkatesh Prasad, V., Bernstein, A., Robinson, E., Snellman, K., Sommer, S.A., Otner, S.M.G., Robinson, D.A., Madan, N., Silberzahn, R., Goldstein, P., Tierney, W., Murase, T., Mandl, B., Viganola, D., Strobl, C., Schaumans, C.B.C., Kelchtermans, S., Naseeb, C., Mason Garrison, S., Yarkoni, T., Richard Chan, C. S., Adie, P., Alaburda, P., Albers, C., Alspaugh, S., Alstott, J., Nelson, A.A., Ariño de la Rubia, E., Arzi, A., Bahník, Š., Baik, J., Winther Balling, L., Banker, S., Baranger, D.A.A., Barr, D.J., Barros-Rivera, B., Bauer, M., Blaise, E., Boelen, L., Bohle Carbonell, K., Briers, R.A., Burkhard, O., Canela, M.A., Castrillo, L., Catlett, T., Chen, O., Clark, M., Cohn, B., Coppock, A., Cugueró-Escofet, N., Curran, P.G., Cyrus-Lai, W., Dai, D., Valentino Dalla Riva, G., Danielsson, H., Russo, R.d.F.S.M., de Silva, N., Derungs, C., Dondelinger, F., Duarte de Souza, C., Tyson Dube, B., Dubova, M., Dunn, B.M., Edelsbrunner, P.A., Finley, S., Fox, N., Gnambs, T., Gong, Y., Grand, E., Greenawalt, B., Han, D., Hanel, P.H.P., Hong, A.B., Hood, D., Hsueh, J., Huang, L., Hui, K.N., Hultman, K.A., Javaid, A., Ji Jiang, L., Jong, J., Kamdar, J., Kane, D., Kappler, G., Kaszubowski, E., Kavanagh, C.M., Khabsa, M., Kleinberg, B., Kouros, J., Krause, H., Krypotos, A.M., Lavbič, D., Ling Lee, R., Leffel, T., Yang Lim, W., Liverani, S., Loh, B., Lønsmann, D., Wei Low, J., Lu, A., MacDonald, K., Madan, C.R., Hjorth Madsen, L., Maimone, C., Mangold, A., Marshall, A., Matskewich, H.E., Mavon, K., McLain, K.L., McNamara, A.A., McNeill, M., Mertens, U., Miller, D., Moore, B., Moore, A., Nantz, E., Nasrullah, Z., Nejkovic, V., Nell, C.S., Nilsonne, G., Nolan, R., O'Brien, C.E., O'Neill, P., O'Shea, K., Olita, T., Otterbacher, J., Palsetia, D., Pereira, B., Pozdniakov, I., Protzko, J., Reyt, J.N., Riddle, T., (Akmal) Ridhwan Omar Ali, A., Ropovik, I., Rosenberg, J.M., Rothen, S., Schulte-Mecklenbeck, M., Sharma, N., Shotwell, G., Skarzynski, M., Stedden, W., Stodden, V., Stoffel, M.A., Stoltzman, S., Subbaiah, S., Tatman, R., Thibodeau, P.H., Tomkins, S., Valdivia, A., Druijff-van de Woestijne, G.B., Viana, L., Villesèche, F., Wadsworth, W.D., Wanders, F., Watts, K., Wells, J.D., Whelpley, C.E., Won, A., Wu, L., Yip, A., Youngflesh, C., Yu, J.C., Zandian, A., Zhang, L., Zibman, C., Uhlmann, E.L., Social Networks, Solidarity and Inequality, Leerstoel Buskens, Structural geology and EM, Experimental psychopathology, Leerstoel Engelhard, Schweinsberg, M., Feldman, M., Staub, N., van den Akker, O.R., van Aert, R.C.M., van Assen, M.A.L.M., Liu, Y., Althoff, T., Heer, J., Kale, A., Mohamed, Z., Amireh, H., Venkatesh Prasad, V., Bernstein, A., Robinson, E., Snellman, K., Sommer, S.A., Otner, S.M.G., Robinson, D.A., Madan, N., Silberzahn, R., Goldstein, P., Tierney, W., Murase, T., Mandl, B., Viganola, D., Strobl, C., Schaumans, C.B.C., Kelchtermans, S., Naseeb, C., Mason Garrison, S., Yarkoni, T., Richard Chan, C. S., Adie, P., Alaburda, P., Albers, C., Alspaugh, S., Alstott, J., Nelson, A.A., Ariño de la Rubia, E., Arzi, A., Bahník, Š., Baik, J., Winther Balling, L., Banker, S., Baranger, D.A.A., Barr, D.J., Barros-Rivera, B., Bauer, M., Blaise, E., Boelen, L., Bohle Carbonell, K., Briers, R.A., Burkhard, O., Canela, M.A., Castrillo, L., Catlett, T., Chen, O., Clark, M., Cohn, B., Coppock, A., Cugueró-Escofet, N., Curran, P.G., Cyrus-Lai, W., Dai, D., Valentino Dalla Riva, G., Danielsson, H., Russo, R.d.F.S.M., de Silva, N., Derungs, C., Dondelinger, F., Duarte de Souza, C., Tyson Dube, B., Dubova, M., Dunn, B.M., Edelsbrunner, P.A., Finley, S., Fox, N., Gnambs, T., Gong, Y., Grand, E., Greenawalt, B., Han, D., Hanel, P.H.P., Hong, A.B., Hood, D., Hsueh, J., Huang, L., Hui, K.N., Hultman, K.A., Javaid, A., Ji Jiang, L., Jong, J., Kamdar, J., Kane, D., Kappler, G., Kaszubowski, E., Kavanagh, C.M., Khabsa, M., Kleinberg, B., Kouros, J., Krause, H., Krypotos, A.M., Lavbič, D., Ling Lee, R., Leffel, T., Yang Lim, W., Liverani, S., Loh, B., Lønsmann, D., Wei Low, J., Lu, A., MacDonald, K., Madan, C.R., Hjorth Madsen, L., Maimone, C., Mangold, A., Marshall, A., Matskewich, H.E., Mavon, K., McLain, K.L., McNamara, A.A., McNeill, M., Mertens, U., Miller, D., Moore, B., Moore, A., Nantz, E., Nasrullah, Z., Nejkovic, V., Nell, C.S., Nilsonne, G., Nolan, R., O'Brien, C.E., O'Neill, P., O'Shea, K., Olita, T., Otterbacher, J., Palsetia, D., Pereira, B., Pozdniakov, I., Protzko, J., Reyt, J.N., Riddle, T., (Akmal) Ridhwan Omar Ali, A., Ropovik, I., Rosenberg, J.M., Rothen, S., Schulte-Mecklenbeck, M., Sharma, N., Shotwell, G., Skarzynski, M., Stedden, W., Stodden, V., Stoffel, M.A., Stoltzman, S., Subbaiah, S., Tatman, R., Thibodeau, P.H., Tomkins, S., Valdivia, A., Druijff-van de Woestijne, G.B., Viana, L., Villesèche, F., Wadsworth, W.D., Wanders, F., Watts, K., Wells, J.D., Whelpley, C.E., Won, A., Wu, L., Yip, A., Youngflesh, C., Yu, J.C., Zandian, A., Zhang, L., Zibman, C., and Uhlmann, E.L.

Published
2021

13. Evaluation of an online communication skills training programme for oncology nurses working with patients from minority backgrounds

Author

Kaur, R, Meiser, B, Zilliacus, E, Tim Wong, WK, Woodland, L, Watts, K, Tomkins, S, Kissane, D, Girgis, A, Butow, P, Hale, S, Perry, A, Aranda, SK, Shaw, T, Tebble, H, Norris, C, Goldstein, D, Kaur, R, Meiser, B, Zilliacus, E, Tim Wong, WK, Woodland, L, Watts, K, Tomkins, S, Kissane, D, Girgis, A, Butow, P, Hale, S, Perry, A, Aranda, SK, Shaw, T, Tebble, H, Norris, C, and Goldstein, D

Abstract

Objective: This study aimed to develop and assess the feasibility of an online communication skills training intervention to increase cultural competence amongst oncology nurses working with individuals from minority backgrounds. Methods: The intervention provided examples of communication strategies using vignette-based, professionally produced videos, developed through an iterative process with input from a large multidisciplinary team. Fifty-three oncology nurses completed all three questionnaires at baseline, within 2 weeks and then 3 months after accessing the programme. Results: The online intervention was well received by the majority of participants, and was endorsed as clearly presented, informative, relevant and useful by more than 90% of participants. Eighty-seven percent of participants reported increased confidence in communicating with patients via an interpreter, and 93% agreed that skills they gained would be useful in providing better patient care. Participants reported significant improvements in practice while interacting with people with limited English proficiency 2 weeks and 3 months after accessing the website (X 2 = 13.66, P < 0.001). Conclusion: This online communication training programme can now be tested for its utility in improving patient care for oncology nurses working with patients from minority backgrounds.

Published
2019

14. Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

Author

Bancroft, EK, Saya, S, Page, EC, Myhill, K, Thomas, S, Pope, J, Chamberlain, A, Hart, R, Glover, W, Cook, J, Rosario, DJ, Helfand, BT, Selkirk, CH, Davidson, R, Longmuir, M, Eccles, DM, Gadea, N, Brewer, C, Barwell, J, Salinas, M, Greenhalgh, L, Tischkowitz, M, Henderson, A, Evans, DG, Buys, SS, Eeles, RA, Aaronson, NK, Eeles, R, Bancroft, E, Page, E, Kote-Jarai, Z, Ardern-Jones, A, Bangma, C, Castro, E, Dearnaley, D, Falconer, A, Foster, C, Gronberg, H, Hamdy, FC, Johannsson, OT, Khoo, V, Eccles, D, Lilja, H, Evans, G, Eyfjord, J, Lubinski, J, Maehle, L, Mikropoulos, C, Millner, A, Mitra, A, Offman, J, Moynihan, C, Rennert, G, Suri, M, Dias, A, Taylor, N, D'Mello, L, James, P, Mitchell, G, Shanley, S, Richardson, K, McKinley, J, Petelin, L, Murphy, M, Mascarenhas, L, Murphy, D, Lam, J, Taylor, L, Miller, C, Stapleton, A, Chong, M, Suthers, G, Poplawski, N, Tucker, K, Andrews, L, Duffy, J, Millard, R, Ward, R, Williams, R, Stricker, P, Kirk, J, Bowman, M, Patel, M, Harris, M, O'Connell, S, Hunt, C, Smyth, C, Frydenberg, M, Lindeman, G, Shackleton, K, Morton, C, Susman, R, McGaughran, J, Boon, M, Pachter, N, Townshend, S, Schofield, L, Nicholls, C, Spigelman, A, Gleeson, M, Amor, D, Burke, J, Patterson, B, Swindle, P, Scott, R, Foulkes, W, Boshari, T, Aprikian, A, Jensen, T, Bojeson, A, Osther, P, Skytte, A-B, Cruger, D, Tondering, MK, Gerdes, A-M, Schmutzler, R, Rhiem, K, Wihler, P, Kast, K, Griebsch, C, Johannsson, O, Stefansdottir, V, Murthy, V, Sarin, R, Awatagiri, K, Ghonge, S, Kowtal, P, Mulgund, G, Gallagher, D, Bambury, R, Farrell, M, Gallagher, F, Kiernan, I, Friedman, E, Chen-Shtoyerman, R, Basevitch, A, Leibovici, D, Melzer, E, Ben-Yehoshua, SJ, Nicolai, N, Radice, P, Valdagni, R, Magnani, T, Gay, S, Teo, SH, Tan, HM, Yoon, S-Y, Thong, MK, Vasen, H, Ringleberg, J, van Asperen, C, Kiemeney, B, van Zelst-Stams, W, Ausems, MGEM, van der Luijt, RB, van Os, T, Ruijs, MWG, Adank, MA, Oldenburg, RA, Helderman-van den Enden, APTJM, Caanen, BAH, Oosterwijk, JC, Moller, P, Brennhovd, B, Medvik, H, Hanslien, E, Grindedal, EM, Cybulski, C, Wokolorczyk, D, Teixeira, M, Maia, S, Peixoto, A, Henrique, R, Oliveira, J, Goncalves, N, Araujo, L, Seixas, M, Souto, JP, Nogueira, P, Copakova, L, Zgajnar, J, Krajc, M, Vrecar, A, Capella, G, Ramon y Cajal, T, Fisas, D, Mora, J, Esquena, S, Balmana, J, Morote, J, Liljegren, A, Hjalm-Eriksson, M, Ekdahl, K-J, Carlsson, S, George, A, Kemp, Z, Wiggins, J, Moss, C, Van As, N, Thompson, A, Ogden, C, Woodhouse, C, Kumar, P, Bulman, B, Rothwell, J, Tricker, K, Wise, G, Mercer, C, McBride, D, Costello, P, Pearce, A, Torokwa, A, Paterson, J, Clowes, V, Taylor, A, Newcombe, B, Walker, L, Halliday, D, Stayner, B, Fleming-Brown, D, Snape, K, Hanson, H, Hodgson, S, Brice, G, Homfray, T, Hammond, C, Kohut, K, Anjum, U, Dearing, A, Mencias, M, Potter, A, Renton, C, Searle, A, Hill, K, Goodman, S, Garcia, L, Devlin, G, Everest, S, Nadolski, M, Douglas, F, Jobson, I, Paez, E, Donaldson, A, Tomkins, S, Langman, C, Jacobs, C, Pichert, G, Shaw, A, Kulkarni, A, Tripathi, V, Rose, S, Compton, C, Watson, M, Reinholtz, C, Brady, A, Dorkins, H, Melville, A, Kosicka-Slawinska, M, Cummings, C, Kiesel, V, Bartlett, M, Randhawa, K, Ellery, N, Side, L, Male, A, Simon, K, Rees, K, Tidey, L, Gurasashvili, J, Nevitt, L, Ingram, S, Howell, A, Rosario, D, Catto, J, Howson, J, Ong, K-R, Chapman, C, Cole, T, Heaton, T, Hoffman, J, Burgess, L, Huber, C, Islam, F, Watt, C, Duncan, A, Kockelbergh, R, Mzazi, S, Dineen, A, Sattar, A, Kaemba, B, Sidat, Z, Patel, N, Siguake, K, Birt, A, Poultney, U, Umez-Eronini, N, Mom, J, Sutton, V, Cornford, P, Bermingham, N, Yesildag, P, Treherne, K, Griffiths, J, Cogley, L, Gott, H, Rubinstein, WS, Hulick, P, McGuire, M, Shevrin, D, Kaul, K, Weissman, S, Newlin, A, Vogel, K, Weiss, S, Hook, N, Buys, S, Goldgar, D, Conner, T, Venne, V, Stephenson, R, Dechet, C, Domchek, S, Powers, J, Rustgi, N, Strom, S, Arun, B, Davis, JW, Yamamura, Y, Obeid, E, Giri, V, Gross, L, Bealin, L, Cooney, K, Stoffel, E, Okoth, L, Bancroft, EK, Saya, S, Page, EC, Myhill, K, Thomas, S, Pope, J, Chamberlain, A, Hart, R, Glover, W, Cook, J, Rosario, DJ, Helfand, BT, Selkirk, CH, Davidson, R, Longmuir, M, Eccles, DM, Gadea, N, Brewer, C, Barwell, J, Salinas, M, Greenhalgh, L, Tischkowitz, M, Henderson, A, Evans, DG, Buys, SS, Eeles, RA, Aaronson, NK, Eeles, R, Bancroft, E, Page, E, Kote-Jarai, Z, Ardern-Jones, A, Bangma, C, Castro, E, Dearnaley, D, Falconer, A, Foster, C, Gronberg, H, Hamdy, FC, Johannsson, OT, Khoo, V, Eccles, D, Lilja, H, Evans, G, Eyfjord, J, Lubinski, J, Maehle, L, Mikropoulos, C, Millner, A, Mitra, A, Offman, J, Moynihan, C, Rennert, G, Suri, M, Dias, A, Taylor, N, D'Mello, L, James, P, Mitchell, G, Shanley, S, Richardson, K, McKinley, J, Petelin, L, Murphy, M, Mascarenhas, L, Murphy, D, Lam, J, Taylor, L, Miller, C, Stapleton, A, Chong, M, Suthers, G, Poplawski, N, Tucker, K, Andrews, L, Duffy, J, Millard, R, Ward, R, Williams, R, Stricker, P, Kirk, J, Bowman, M, Patel, M, Harris, M, O'Connell, S, Hunt, C, Smyth, C, Frydenberg, M, Lindeman, G, Shackleton, K, Morton, C, Susman, R, McGaughran, J, Boon, M, Pachter, N, Townshend, S, Schofield, L, Nicholls, C, Spigelman, A, Gleeson, M, Amor, D, Burke, J, Patterson, B, Swindle, P, Scott, R, Foulkes, W, Boshari, T, Aprikian, A, Jensen, T, Bojeson, A, Osther, P, Skytte, A-B, Cruger, D, Tondering, MK, Gerdes, A-M, Schmutzler, R, Rhiem, K, Wihler, P, Kast, K, Griebsch, C, Johannsson, O, Stefansdottir, V, Murthy, V, Sarin, R, Awatagiri, K, Ghonge, S, Kowtal, P, Mulgund, G, Gallagher, D, Bambury, R, Farrell, M, Gallagher, F, Kiernan, I, Friedman, E, Chen-Shtoyerman, R, Basevitch, A, Leibovici, D, Melzer, E, Ben-Yehoshua, SJ, Nicolai, N, Radice, P, Valdagni, R, Magnani, T, Gay, S, Teo, SH, Tan, HM, Yoon, S-Y, Thong, MK, Vasen, H, Ringleberg, J, van Asperen, C, Kiemeney, B, van Zelst-Stams, W, Ausems, MGEM, van der Luijt, RB, van Os, T, Ruijs, MWG, Adank, MA, Oldenburg, RA, Helderman-van den Enden, APTJM, Caanen, BAH, Oosterwijk, JC, Moller, P, Brennhovd, B, Medvik, H, Hanslien, E, Grindedal, EM, Cybulski, C, Wokolorczyk, D, Teixeira, M, Maia, S, Peixoto, A, Henrique, R, Oliveira, J, Goncalves, N, Araujo, L, Seixas, M, Souto, JP, Nogueira, P, Copakova, L, Zgajnar, J, Krajc, M, Vrecar, A, Capella, G, Ramon y Cajal, T, Fisas, D, Mora, J, Esquena, S, Balmana, J, Morote, J, Liljegren, A, Hjalm-Eriksson, M, Ekdahl, K-J, Carlsson, S, George, A, Kemp, Z, Wiggins, J, Moss, C, Van As, N, Thompson, A, Ogden, C, Woodhouse, C, Kumar, P, Bulman, B, Rothwell, J, Tricker, K, Wise, G, Mercer, C, McBride, D, Costello, P, Pearce, A, Torokwa, A, Paterson, J, Clowes, V, Taylor, A, Newcombe, B, Walker, L, Halliday, D, Stayner, B, Fleming-Brown, D, Snape, K, Hanson, H, Hodgson, S, Brice, G, Homfray, T, Hammond, C, Kohut, K, Anjum, U, Dearing, A, Mencias, M, Potter, A, Renton, C, Searle, A, Hill, K, Goodman, S, Garcia, L, Devlin, G, Everest, S, Nadolski, M, Douglas, F, Jobson, I, Paez, E, Donaldson, A, Tomkins, S, Langman, C, Jacobs, C, Pichert, G, Shaw, A, Kulkarni, A, Tripathi, V, Rose, S, Compton, C, Watson, M, Reinholtz, C, Brady, A, Dorkins, H, Melville, A, Kosicka-Slawinska, M, Cummings, C, Kiesel, V, Bartlett, M, Randhawa, K, Ellery, N, Side, L, Male, A, Simon, K, Rees, K, Tidey, L, Gurasashvili, J, Nevitt, L, Ingram, S, Howell, A, Rosario, D, Catto, J, Howson, J, Ong, K-R, Chapman, C, Cole, T, Heaton, T, Hoffman, J, Burgess, L, Huber, C, Islam, F, Watt, C, Duncan, A, Kockelbergh, R, Mzazi, S, Dineen, A, Sattar, A, Kaemba, B, Sidat, Z, Patel, N, Siguake, K, Birt, A, Poultney, U, Umez-Eronini, N, Mom, J, Sutton, V, Cornford, P, Bermingham, N, Yesildag, P, Treherne, K, Griffiths, J, Cogley, L, Gott, H, Rubinstein, WS, Hulick, P, McGuire, M, Shevrin, D, Kaul, K, Weissman, S, Newlin, A, Vogel, K, Weiss, S, Hook, N, Buys, S, Goldgar, D, Conner, T, Venne, V, Stephenson, R, Dechet, C, Domchek, S, Powers, J, Rustgi, N, Strom, S, Arun, B, Davis, JW, Yamamura, Y, Obeid, E, Giri, V, Gross, L, Bealin, L, Cooney, K, Stoffel, E, and Okoth, L

Abstract

OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. PARTICPANTS AND METHODS: Men enrolled in the IMPACT study were invited to complete a questionnaire at collaborating sites prior to each annual screening visit. The questionnaire included sociodemographic characteristics and the following measures: the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), 36-item short-form health survey (SF-36), Memorial Anxiety Scale for Prostate Cancer, Cancer Worry Scale-Revised, risk perception and knowledge. The results of the baseline questionnaire are presented. RESULTS: A total of 432 men completed questionnaires: 98 and 160 had mutations in BRCA1 and BRCA2 genes, respectively, and 174 were controls (familial mutation negative). Participants' perception of PCa risk was influenced by genetic status. Knowledge levels were high and unrelated to genetic status. Mean scores for the HADS and SF-36 were within reported general population norms and mean IES scores were within normal range. IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. At the multivariate level, risk perception contributed more significantly to variance in IES scores than genetic status. CONCLUSION: This is the first study to report the psychosocial profile of men with BRCA1/BRCA2 mutations undergoing PCa screening. No clinically concerning levels of general or cancer-specific distress or poor quality of life were detected in the cohort as a whole. A small subset of participants reported higher levels of distress, suggesting the need for healthcare professionals offering PCa screening to identify these risk factors and offer additional information and support t

Published
2019

15. De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Author

Sectie Morfologie/CMC, Genetica Klinische Genetica, Child Health, Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A.J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A., Sectie Morfologie/CMC, Genetica Klinische Genetica, Child Health, Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A.J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., and van Haeringen, A.

Published
2019

20. Evaluation of an online communication skills training programme for oncology nurses working with patients from minority backgrounds

Author

Kaur, R, Meiser, B, Ziliacus, E, Wong, WKT, Woodland, L, Watts, K, Tomkins, S, Kissane, D, Girgis, A, Butow, P, Hale, S, Perry, A, Aranda, SK, Shaw, T, Tebble, H, Norris, C, Goldstein, D, Kaur, R, Meiser, B, Ziliacus, E, Wong, WKT, Woodland, L, Watts, K, Tomkins, S, Kissane, D, Girgis, A, Butow, P, Hale, S, Perry, A, Aranda, SK, Shaw, T, Tebble, H, Norris, C, and Goldstein, D

Published
2018

21. Evaluation of an online communication skills training programme for oncology nurses working with patients from minority backgrounds.

Author

Shaw T., Woodland L., Watts K., Tomkins S., Girgis A., Butow P., Hale S., Perry A., Aranda S.K., Goldstein D., Kissane D., Norris C., Tebble H., Kaur R., Meiser B., Zilliacus E., Tim Wong W.K., Shaw T., Woodland L., Watts K., Tomkins S., Girgis A., Butow P., Hale S., Perry A., Aranda S.K., Goldstein D., Kissane D., Norris C., Tebble H., Kaur R., Meiser B., Zilliacus E., and Tim Wong W.K.

Abstract

Objective: This study aimed to develop and assess the feasibility of an online communication skills training intervention to increase cultural competence amongst oncology nurses working with individuals from minority backgrounds. Method(s): The intervention provided examples of communication strategies using vignette-based, professionally produced videos, developed through an iterative process with input from a large multidisciplinary team. Fifty-three oncology nurses completed all three questionnaires at baseline, within 2 weeks and then 3 months after accessing the programme. Result(s): The online intervention was well received by the majority of participants, and was endorsed as clearly presented, informative, relevant and useful by more than 90% of participants. Eighty-seven percent of participants reported increased confidence in communicating with patients via an interpreter, and 93% agreed that skills they gained would be useful in providing better patient care. Participants reported significant improvements in practice while interacting with people with limited English proficiency 2 weeks and 3 months after accessing the website (X2 = 13.66, P < 0.001). Conclusion(s): This online communication training programme can now be tested for its utility in improving patient care for oncology nurses working with patients from minority backgrounds.Copyright © 2018, Springer-Verlag GmbH Germany, part of Springer Nature.

Published
2018

22. Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

Author

Saya, S, Killick, E, Thomas, S, Taylor, N, Bancroft, EK, Rothwell, J, Benafif, S, Dias, A, Mikropoulos, C, Pope, J, Chamberlain, A, Gunapala, R, SIGNIFY Study Steering Committee, Izatt, L, Side, L, Walker, L, Tomkins, S, Cook, J, Barwell, J, Wiles, V, Limb, L, Eccles, D, Leach, MO, Shanley, S, Gilbert, FJ, Hanson, H, Gallagher, D, Rajashanker, B, Whitehouse, RW, Koh, D-M, Sohaib, SA, Evans, DG, Eeles, RA, Gilbert, Fiona [0000-0002-0124-9962], and Apollo - University of Cambridge Repository

Subjects
Li Fraumeni syndrome, Whole body MRI, Screening, TP53 mutation carriers, Controls
Abstract

In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomatic TP53 mutation carriers. 44 TP53 mutation carriers and 44 population controls were recruited. Scans were read by radiologists blinded to participant carrier status. The incidence of malignancies diagnosed in TP53 mutation carriers against general population controls was calculated. The incidences of non-malignant relevant disease and irrelevant disease were measured, as well as the number of investigations required to determine relevance of findings. In TP53 mutation carriers, 6 of 44 (13.6, 95% CI 5.2-27.4%) participants were diagnosed with cancer during the study, all of which would be considered life threatening if untreated. Two were found to have two primary cancers. Two participants with cancer had abnormalities on the MRI which were initially thought to be benign (a pericardial cyst and a uterine fibroid) but transpired to be sarcomas. No controls were diagnosed with cancer. Fifteen carriers (34.1, 95% CI 20.5-49.9%) and seven controls (15.9, 95% CI 6.7-30.1%) underwent further investigations following the WB MRI for abnormalities that transpired to be benign (p = 0.049). The cancer detection rate in this group justifies a minimum baseline non-contrast WB MRI in germline TP53 mutation carriers. This should be adopted into national guidelines for management of adult TP53 mutation carriers in addition to the current practice of contrast enhanced breast MRI imaging.

Published
2017

23. Prevalence and architecture of de novo mutations in developmental disorders

Author

McRae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Banka, S, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McKee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O’Shea, R, Ogilvie, C, Ong, K-R, Park, S-M, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Vogt, J, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellåker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, and Hurles, ME

Subjects
Male, Parents, Heredity, Developmental Disabilities, GRIN2B, POGZ, Autoantigens, SMAD4, CASK, GATAD2B, 0302 clinical medicine, TRIO, SMARCA2, KCNH1, Average Faces, CTNNB1, SCN1A, Young adult, Casein Kinase II, Child, AUTS2, MEF2C, Exome, ADNP, Exome sequencing, EP300, KCNQ2, KCNQ3, EHMT1, CNKSR2, CREBBP, MYT1L, MED13L, CSNK2A1, Protein Phosphatase 2C, PPP2R1A, ZBTB18, CDKL5, WAC, HNRNPU, Cohort, STXBP1, Medical genetics, SYNGAP1, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Sex characteristics, AHDC1, SCN8A, medicine.medical_specialty, SLC6A1, FOXP1, USP9X, Article, ANKRD11, PUF60, BRAF, 03 medical and health sciences, SATB2, SMC1A, Intellectual Disability, BCL11A, GABRB3, IQSEC2, Humans, TBL1XR1, TCF4, MSL3, TCF20, DNM1, EEF1A2, SUV420H1, DYRK1A, SETD5, COL4A3BP, CTCF, CHD2, R1, CHD4, 030104 developmental biology, NAA10, HDAC8, Mutation, KDM5B, CHAMP1, PhenIcons, 030217 neurology & neurosurgery, Transcription Factors, 0301 basic medicine, ZMYND11, PTEN, De novo mutation, Chromosomal Proteins, Non-Histone, PTPN11, ASXL1, Bioinformatics, medicine.disease_cause, ASXL3, Cohort Studies, DEAD-box RNA Helicases, CHD8, Prevalence, QRICH1, KIF1A, Genetics, Sex Characteristics, GNAI1, Multidisciplinary, WDR45, Middle Aged, KMT2A, PPM1D, MECP2, DNA-Binding Proteins, PPP2R5D, Phenotype, PACS1, ras GTPase-Activating Proteins, DDX3X, Female, FOXG1, SET, Myeloid-Lymphoid Leukemia Protein, Developmental Disease, Adult, KANSL1, Adolescent, NFIX, Nerve Tissue Proteins, PURA, Biology, KAT6B, KAT6A, NSD1, PDHA1, ALG13, Young Adult, Seizures, CDC2 Protein Kinase, medicine, Journal Article, QH426, Homeodomain Proteins, ITPR1, DYNC1H1, GNAO1, Histone-Lysine N-Methyltransferase, Sequence Analysis, DNA, ZC4H2, ARID1B, Repressor Proteins, CNOT3, SCN2A, SLC35A2, CDK13
Abstract

Children with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,294 families with children with DDs, and meta-analysed these data with published data on 3,287 children with similar disorders. We show that the most significant factors influencing the diagnostic yield of de novo mutations are the sex of the child, the relatedness of their parents and the age of both father and mother. We identified 95 genes enriched for damaging de novo mutation at genome-wide significance (P < 5 x 10-7), including fourteen genes for which compelling data for causation was previously lacking. The large number of genome-wide significant findings allow us to demonstrate that, at current cost differentials, exome sequencing has much greater power than genome sequencing for novel gene discovery in genetically heterogeneous disorders. We estimate that 42.5% of our cohort likely carry pathogenic de novo single nucleotide variants (SNVs) and indels in coding sequences, with approximately half operating by a loss-of-function mechanism, and the remainder being gain-of-function. We established that most haploinsufficient developmental disorders have already been identified, but that many gain-of-function disorders remain to be discovered. Extrapolating from the DDD cohort to the general population, we estimate that de novo dominant developmental disorders have an average birth prevalence of 1 in 168 to 1 in 377, depending on parental age.

Published
2017

24. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

Author

Balasubramanian, M., Willoughby, J., Fry, A.E., Weber, A., Firth, H.V., Deshpande, C., Berg, J.N., Chandler, K., Metcalfe, K.A., Lam, W., Pilz, D., Tomkins, S., and Study, D.D.D.

Abstract

BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients. OBJECTIVES: Here, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmental Disorders study. METHODS: Trio-based exome sequencing was performed on all 12 patients included in this study, which found a de novo truncating mutation in ASXL3. Detailed phenotypic information and patient images were collected and summarised as part of this study. RESULTS: By obtaining genotype:phenotype data, we have been able to demonstrate a second mutation cluster region within ASXL3. This report expands the phenotype of older patients with BRPS; common emerging features include severe intellectual disability (12/12), poor/ absent speech (12/12), autistic traits (9/12), distinct face (arched eyebrows, prominent forehead, high-arched palate, hypertelorism and downslanting palpebral fissures), (9/12), hypotonia (12/12) and significant feeding difficulties (12) when young. DISCUSSION: Similarities in the patients reported previously in comparison with this cohort included their distinctive craniofacial features, feeding problems, absent/limited speech and intellectual disability. Shared behavioural phenotypes include autistic traits, hand-flapping, rocking, aggressive behaviour and sleep disturbance. CONCLUSIONS: This series expands the phenotypic spectrum of this severe disorder and highlights its surprisingly high frequency. With the advent of advanced genomic screening, we are likely to identify more variants in this gene presenting with a variable phenotype, which this study will explore.

Published
2017

25. Evaluation of an online communication skills training programme foroncology health care professionalsworkingwith culturally and linguistically diverse patients.

Author

Tebble H., Meiser B., Goldstein D., Shaw T., Kaur R., Zilliacus E., Wong T., Woodland L., Tomkins S., Kissane D., Girgis A., Butow P., Hale S., Perry A., Aranda S.K., Tebble H., Meiser B., Goldstein D., Shaw T., Kaur R., Zilliacus E., Wong T., Woodland L., Tomkins S., Kissane D., Girgis A., Butow P., Hale S., Perry A., and Aranda S.K.

Abstract

Background: No communication skills training (CST) resources specifically targeting cultural competency in oncology healthcare are currently available. This project aimed to develop an online interactive CST program and assess its feasibility and potential efficacy in improving perceived competence of oncology health professionals (HPs) in communicating with people with cancer from minority backgrounds. Method(s): An online CST program providing strategies exemplified in vignettes-based professionally produced videos was developed through an iterative process with input from a large multidisciplinary team. The CST program was tested with medical oncologists, radiation oncologists and oncology nurses. Participants were asked to complete self-report questionnaires at three time points-pre-CST program (baseline) and post-CST program, (a) 2 weeks after completion and (b) 3months later. Result(s): Fifty-four participants completed all three questionnaires and 53 of these were oncology nurses. Participants' evaluations of the programme were overwhelmingly positive. Ninety-six percent found the CST program was helpful in giving them an understanding of issues relating to working with patients from CALD backgrounds, and 83% stated that they have gained new skills in working with these patients. Ninety-one percent stated that they would recommend the program to their colleagues. Comparison of mean scores calculated from baseline (time period T1) to follow up surveys (time periods T2 and T3) showed that HPs increasingly felt that it was the relative responsibility of HPs and hospitals to adapt to needs of people from CALD backgrounds (mean scores T1 = 22.5 (SD: 3.7); T2 = 22.5 (SD: 3.2); T3 = 25.1 (SD: 2.5); P < 0.001). They perceived the program will bring positive change in their practise and their readiness to communicate in a culturally competent manner (mean scores T1 = 26.5 (SD: 2.1); T2 = 27.8 (SD: 1.5) T3 = 28 (SD: 1.6); P < 0.001). Conclusion(s): The programwas judge

Published
2017

26. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients withde novo, heterozygous, loss-of-function mutations inASXL3and review of published literature

Author

Balasubramanian, M, primary, Willoughby, J, additional, Fry, A E, additional, Weber, A, additional, Firth, H V, additional, Deshpande, C, additional, Berg, J N, additional, Chandler, K, additional, Metcalfe, K A, additional, Lam, W, additional, Pilz, D T, additional, and Tomkins, S, additional

Published
2017
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28. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

Author

Bancroft, EK, Page, EC, Castro, E, Lilja, H, Vickers, A, Sjoberg, D, Assel, M, Foster, CS, Mitchell, G, Drew, K, Maehle, L, Axcrona, K, Evans, DG, Bulman, B, Eccles, D, McBride, D, van Asperen, C, Vasen, H, Kiemeney, LA, Ringelberg, J, Cybulski, C, Wokolorczyk, D, Selkirk, C, Hulick, PJ, Bojesen, A, Skytte, AB, Lam, J, Taylor, L, Oldenburg, R, Cremers, R, Verhaegh, G, van Zelst-Stams, WA, Oosterwijk, JC, Blanco, I, Salinas, M, Cook, J, Rosario, DJ, Buys, S, Conner, T, Ausems, MG, Ong, KR, Hoffman, J, Domchek, S, Powers, J, Teixeira, MR, Maia, S, Foulkes, WD, Taherian, N, Ruijs, M, Helderman-van den Enden, AT, Izatt, L, Davidson, R, Adank, MA, Walker, L, Schmutzler, R, Tucker, K, Kirk, J, Hodgson, S, Harris, M, Douglas, F, Lindeman, GJ, Zgajnar, J, Tischkowitz, M, Clowes, VE, Susman, R, Cajal, TRY, Patcher, N, Gadea, N, Spigelman, A, van Os, T, Liljegren, A, Side, L, Brewer, C, Brady, AF, Donaldson, A, Stefansdottir, V, Friedman, E, Chen-Shtoyerman, R, Amor, DJ, Copakova, L, Barwell, J, Giri, VN, Murthy, V, Nicolai, N, Teo, SH, Greenhalgh, L, Strom, S, Henderson, A, McGrath, J, Gallagher, D, Aaronson, N, Ardern-Jones, A, Bangma, C, Dearnaley, D, Costello, P, Eyfjord, J, Rothwell, J, Falconer, A, Gronberg, H, Hamdy, FC, Johannsson, O, Khoo, V, Kote-Jarai, Z, Lubinski, J, Axcrona, U, Melia, J, McKinley, J, Mitra, AV, Moynihan, C, Rennert, G, Suri, M, Wilson, P, Killick, E, Moss, S, Eeles, RA, Taylor, N, Pope, J, Saya, S, Martin, S, Keating, D, Petelin, L, Murphy, M, Doherty, R, Pratt, S, Murphy, D, Cleeve, L, Miller, C, Stapleton, A, Chong, M, Suthers, G, Andrews, L, Duffy, J, Millard, R, Ward, R, Williams, R, Stricker, P, Bowman, M, Patel, M, O'Connell, S, Hunt, C, Smyth, C, Frydenberg, M, Shackleton, K, McGaughran, J, Boon, M, Pachter, N, Townshend, S, Schofield, L, Gleeson, M, Scott, R, Burke, J, Patterson, B, Bacic, S, Swindle, P, Aprikian, A, Bojeson, A, Cruger, D, Osther, P, Gerdes, AM, Rhiem, K, Luedtke-Heckenkamp, K, Ochsendorf, N, Fiddike, K, Sarin, R, Awatagiri, K, Ghonge, S, Kowtal, P, Mulgund, G, Bambury, R, Farrell, M, Gallagher, F, Ben-Yehoshua, SJ, Nissani, R, Appelman, Z, Moriel, E, Radice, P, Valdagni, R, Magnani, T, Meng, TH, Yoon, SY, Thong, MK, Kiemeney, B, Van der Luijt, RB, Moller, P, Brennhovd, B, Medvik, H, Hanslien, E, Peixoto, A, Henrique, R, Oliveira, J, Goncalves, N, Araujo, L, Seixas, M, Joao, PS, Nogueira, P, Krajc, M, Vrecar, A, Capella, G, Fisas, D, Balmana, J, Morote, J, Hjalm-Eriksson, M, Ekdahl, KJ, Carlsson, S, Hanson, H, Shanley, S, Goh, C, Wiggins, J, Kohut, K, Van As, N, Thompson, A, Ogden, C, Borley, N, Woodhouse, C, Kumar, P, Mercer, C, Paterson, J, Taylor, A, Newcombe, B, Halliday, D, Stayner, B, Fleming-Brown, D, Brice, G, Homfray, T, Hammond, C, Potter, A, Renton, C, Searle, A, Hill, K, Goodman, S, Garcia, L, Devlin, G, Everest, S, Nadolski, M, Jobson, I, Paez, E, Tomkins, S, Pichert, G, Jacobs, C, Langman, C, Weston, M, Dorkins, H, Melville, A, Kosicka-Slawinska, M, Cummings, C, Kiesel, V, Bartlett, M, Randhawa, K, Ellery, N, Male, A, Simon, K, Rees, K, Compton, C, Tidey, L, Nevitt, L, Ingram, S, Catto, J, Howson, J, Chapman, C, Cole, T, Heaton, T, Burgess, L, Longmuir, M, Watt, C, Duncan, A, Kockelbergh, R, Sattar, A, Kaemba, B, Sidat, Z, Patel, N, Siguake, K, Birt, A, Poultney, U, Umez-Eronini, N, Mom, J, Roberts, G, Woodward, A, Sutton, V, Cornford, P, Treherne, K, Griffiths, J, Cogley, L, Rubinstein, W, Brendler, C, Helfand, B, McGuire, M, Kaul, K, Shevrin, D, Weissman, S, Newlin, A, Vogel, K, Weiss, S, Goldgar, D, Venne, V, Stephenson, R, Dechet, C, Arun, B, Davis, JW, Yamamura, Y, and Gross, L

Subjects
Prostate cancer, BRCA1, BRCA2, Prostate-specific antigen, Targeted screening
Abstract

Background: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium of 62 centres in 20 countries evaluating the use of targeted PCa screening in men with BRCA1/2 mutations. Objective: To report the first year's screening results for all men at enrolment in the study. Design, setting and participants: We recruited men aged 40-69 yr with germline BRCA1/2 mutations and a control group of men who have tested negative for a pathogenic BRCA1 or BRCA2 mutation known to be present in their families. All men underwent prostate-specific antigen (PSA) testing at enrolment, and those men with PSA > 3 ng/ml were offered prostate biopsy. Outcome measurements and statistical analysis: PSA levels, PCa incidence, and tumour characteristics were evaluated. The Fisher exact test was used to compare the number of PCa cases among groups and the differences among disease types. Results and limitations: We recruited 2481 men (791 BRCA1 carriers, 531 BRCA1 controls; 731 BRCA2 carriers, 428 BRCA2 controls). A total of 199 men (8%) presented with PSA > 3.0 ng/ml, 162 biopsies were performed, and 59 PCas were diagnosed (18 BRCA1 carriers, 10 BRCA1 controls; 24 BRCA2 carriers, 7 BRCA2 controls); 66% of the tumours were classified as intermediate-or high-risk disease. The positive predictive value (PPV) for biopsy using a PSA threshold of 3.0 ng/ml in BRCA2 mutation carriers was 48%-double the PPV reported in population screening studies. A significant difference in detecting intermediate-or high-risk disease was observed in BRCA2 carriers. Ninety-five percent of the men were white, thus the results cannot be generalised to all ethnic groups. Conclusions: The IMPACT screening network will be useful for targeted PCa screening studies in men with germline genetic risk variants as they are discovered. These preliminary results support the use of targeted PSA screening based on BRCA genotype and show that this screening yields a high proportion of aggressive disease. Patient summary: In this report, we demonstrate that germline genetic markers can be used to identify men at higher risk of prostate cancer. Targeting screening at these men resulted in the identification of tumours that were more likely to require treatment. (C) 2014 European Association of Urology. Published by Elsevier B. V. All rights reserved.

Published
2014

29. Communication skills training for oncology health care professionals working with culturally and linguistically diverse patients.

Author

Kaur R., Shaw T., Tebble H., Woodland L., Goldstein D., Meiser B., Zilliacus E., Wong T., Girgis A., Butow P., Hale S., Kissane D., Perry A., Aranda S., Tomkins S., Hodges J., Norris C., Kaur R., Shaw T., Tebble H., Woodland L., Goldstein D., Meiser B., Zilliacus E., Wong T., Girgis A., Butow P., Hale S., Kissane D., Perry A., Aranda S., Tomkins S., Hodges J., and Norris C.

Abstract

Aim: Develop and evaluate a novel online training program designed to equip health professionals to communicate with cancer patients from diverse cultural and linguistic backgrounds (CALD). Method(s): In Phase I of the study, medical and radiation oncologists and oncology nurses working in a clinical setting were interviewed in depth to investigate the main issues that health professionals working in oncology face with their CALD patients, as well as the communication strategies used to improve treatment outcomes. Findings from Phase I were used to guide the development of the content of the online intervention in Phase II. The website will be pilot tested using a prospective design with three questionnaire-based assessments. Result(s): Phase I: 38 oncologists and oncology nurses were interviewed and interviews were subjected to a rigorous qualitative analysis. The majority of participants believed that the main barrier to communication with CALD patients was one of language rather than culture. Interpreters were considered a vital resource; however, their availability was reported as varying greatly across health services. All participants reported that there was a dearth of available written resources, which reduced the quality of information being conveyed to CALD patients. The majority reported learning communication strategies from colleagues, or through their own experience, rather than formal training. Most participants felt that an online or workshop-based CST program focusing on the use of interpreters and cultural awareness in cancer care would be of value. Phase II: Program content development is now complete, and video production depicting model behaviours used with three key case-studies was completed in March 2015. Data collection for program evaluation will commence shortly, and evaluation data will be presented. Conclusion(s): Oncology health professionals reported several barriers to effective communication with CALD patients. All identified a need

Published
2015

30. De novo variants in CNOT3cause a variable neurodevelopmental disorder

Author

Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., and van Haeringen, A.

Abstract

As a result of exome-based sequencing work performed by the DDD study, de novo variants in CNOT3have emerged as a newly recognised cause of a developmental disorder. This paper describes molecular and clinical details of 16 probands with developmental disorders and de novo CNOT3 variants. It is the first such description of the developmental phenotype associated with CNOT3variants. Eight of these cases were discovered as part of the DDD study, while the other eight were found as a result of large-scale sequencing work performed by other groups. A highly specific phenotype was not recognised in these 16 cases. The most consistent phenotypic features seen in subjects with de novo variants in CNOT3were hypotonia, relatively small stature, developmental delay, behavioural problems and intellectual disability. There is no easily recognisable facial phenotype, but some common dysmorphic features such as anteverted nares, thin upper lip and low set eyebrows were shared among some of the probands. Haploinsufficiency appears to be the most likely mechanism of action, with eight cases found to have protein-truncating variants. Of the other eight cases (all missense variants), three share an amino acid substitution at the same position which may therefore represent an important functional domain.

Published
2019
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31. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Author

Scherpenzeel, M. van, Timal-Stevenson, S., Rymen, D., Hoischen, A., Wuhrer, M., Hipgrave-Ederveen, A., Grunewald, S., Peanne, R., Saada, A., Edvardson, S., Gronborg, S., Ruijter, G., Kattentidt-Mouravieva, A., Brum, J.M., Freckmann, M.L., Tomkins, S., Jalan, A., Prochazkova, D., Ondruskova, N., Hansikova, H., Willemsen, M.A., Hensbergen, P.J., Matthijs, G., Wevers, R.A., Veltman, J.A., Morava, E., Lefeber, D.J., Scherpenzeel, M. van, Timal-Stevenson, S., Rymen, D., Hoischen, A., Wuhrer, M., Hipgrave-Ederveen, A., Grunewald, S., Peanne, R., Saada, A., Edvardson, S., Gronborg, S., Ruijter, G., Kattentidt-Mouravieva, A., Brum, J.M., Freckmann, M.L., Tomkins, S., Jalan, A., Prochazkova, D., Ondruskova, N., Hansikova, H., Willemsen, M.A., Hensbergen, P.J., Matthijs, G., Wevers, R.A., Veltman, J.A., Morava, E., and Lefeber, D.J.

Abstract

Contains fulltext : 127752.pdf (publisher's version ) (Closed access), Congenital disorders of glycosylation comprise a group of genetic defects with a high frequency of intellectual disability, caused by deficient glycosylation of proteins and lipids. The molecular basis of the majority of the congenital disorders of glycosylation type I subtypes, localized in the cytosol and endoplasmic reticulum, has been solved. However, elucidation of causative genes for defective Golgi glycosylation (congenital disorders of glycosylation type II) remains challenging because of a lack of sufficiently specific diagnostic serum methods. In a single patient with intellectual disability, whole-exome sequencing revealed MAN1B1 as congenital disorder of glycosylation type II candidate gene. A novel mass spectrometry method was applied for high-resolution glycoprofiling of intact plasma transferrin. A highly characteristic glycosylation signature was observed with hybrid type N-glycans, in agreement with deficient mannosidase activity. The speed and robustness of the method allowed subsequent screening in a cohort of 100 patients with congenital disorder of glycosylation type II, which revealed the characteristic glycosylation profile of MAN1B1-congenital disorder of glycosylation in 11 additional patients. Abnormal hybrid type N-glycans were also observed in the glycoprofiles of total serum proteins, of enriched immunoglobulins and of alpha1-antitrypsin in variable amounts. Sanger sequencing revealed MAN1B1 mutations in all patients, including severe truncating mutations and amino acid substitutions in the alpha-mannosidase catalytic site. Clinically, this group of patients was characterized by intellectual disability and delayed motor and speech development. In addition, variable dysmorphic features were noted, with truncal obesity and macrocephaly in approximately 65% of patients. In summary, MAN1B1 deficiency appeared to be a frequent cause in our cohort of patients with unsolved congenital disorder of glycosylation type II. Our method for analysis o

Published
2014

32. Ethical Delphi Manual

Author

Millar, K., Tomkins, S., Thorstensen, E., Mepham, B., and Kaiser, M.

Subjects
food industry, voedselindustrie, opinions, agroindustrial sector, biotechnologie, ethics, agro-industriële sector, participation methods, denken, dierenwelzijn, animal welfare, participatieve methoden, bio-ethiek, thinking, opinies, ethiek, bioethics, biotechnology
Abstract

An ethical Delphi is an iterative participatory process between experts for exchanging views and arguments on ethical issues. The method is structured around the notion of a virtual committee where the exchange of ideas is conducted remotely through a series of opinion exchanges. The ethical Delphi is a developed method that can be used to characterise the ethical issues raised by the use of novel biotechnologies. The ethical Delphi has been tested for agri-food biotechnologies.

Published
2006

33. Ethical Matrix Manual

Author

Mepham, B., Kaiser, M., Thorstensen, E., Tomkins, S., and Millar, K.

Subjects
Wageningen Economic Research, matrices, animal production, dierethiek, animal ethics, dierlijke productie, dierenwelzijn, animal welfare
Abstract

The ethical matrix is a conceptual tool designed to help decision-makers (as individuals or working in groups) reach sound judgements or decisions about the ethical acceptability and/or optimal regulatory controls for existing or prospective technologies in the field of food and agriculture.

Published
2006

35. Ethical bio-technology assessment tools for agriculture and food production

Author

Beekman, V., de Bakker, H.C.M., Baranzke, H., Baune, O., Deblonde, M.K., Forsberg, E.M., de Graaff, R.P.M., Ingensiep, H.W., Lassen, J., Mepham, B., Porsborg Nielsen, A., Tomkins, S., Thorstensen, E., Millar, K., Skorupinski, B., Brom, F.W.A., Kaiser, M., Sandoe, P., Beekman, V., de Bakker, H.C.M., Baranzke, H., Baune, O., Deblonde, M.K., Forsberg, E.M., de Graaff, R.P.M., Ingensiep, H.W., Lassen, J., Mepham, B., Porsborg Nielsen, A., Tomkins, S., Thorstensen, E., Millar, K., Skorupinski, B., Brom, F.W.A., Kaiser, M., and Sandoe, P.

Published
2006

37. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3and review of published literature

Author

Balasubramanian, M, Willoughby, J, Fry, A E, Weber, A, Firth, H V, Deshpande, C, Berg, J N, Chandler, K, Metcalfe, K A, Lam, W, Pilz, D T, and Tomkins, S

Abstract

BackgroundBainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novotruncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients.ObjectivesHere, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmental Disorders study.MethodsTrio-based exome sequencing was performed on all 12 patients included in this study, which found a de novotruncating mutation in ASXL3. Detailed phenotypic information and patient images were collected and summarised as part of this study.ResultsBy obtaining genotype:phenotype data, we have been able to demonstrate a second mutation cluster region within ASXL3. This report expands the phenotype of older patients with BRPS; common emerging features include severe intellectual disability (11/12), poor/ absent speech (12/12), autistic traits (9/12), distinct face (arched eyebrows, prominent forehead, high-arched palate, hypertelorism and downslanting palpebral fissures), (9/12), hypotonia (11/12) and significant feeding difficulties (9/12) when young.DiscussionSimilarities in the patients reported previously in comparison with this cohort included their distinctive craniofacial features, feeding problems, absent/limited speech and intellectual disability. Shared behavioural phenotypes include autistic traits, hand-flapping, rocking, aggressive behaviour and sleep disturbance.ConclusionsThis series expands the phenotypic spectrum of this severe disorder and highlights its surprisingly high frequency. With the advent of advanced genomic screening, we are likely to identify more variants in this gene presenting with a variable phenotype, which this study will explore.

Published
2017
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49. Book Reviews/Comptes rendus

Author

Vieira, Sérgio, primary, Anglin, Douglas G., additional, Hexham, Irving, additional, Marysse, S., additional, Vail, Leroy, additional, Epprecht, Marc, additional, Obradovic, Nadezda, additional, Nolutshungu, Sam C., additional, Tomkins, S. M., additional, Adam, Heribert, additional, Saunders, Christopher, additional, Nkomo, Mokobung, additional, Smith, Iain R., additional, Awuyah, Chris Kwame, additional, and Coger, Dalvan M., additional

Published
1993
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