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1. Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Author

Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Brown, D., Willan, J., Taylor, S., Jones, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., O’Dubhshlaine, C., McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., Hayden, C., Garrett, Alice, Allen, Sophie, Durkie, Miranda, Burghel, George J., Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Rowlands, Charlie F., McVeigh, Terri, Hanson, Helen, and Turnbull, Clare

Published
2025
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2. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Author

Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.-C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Baple, E., Rauter, E., Johnston, E., Woodward, E., Maher, E., Sofianopoulou, E., Petrides, E., Lalloo, F., McRonald, F., Pelz, F., Frayling, I., Evans, G., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.-R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Barlett, M., Watt, C., Hegarty, M., Loong, Lucy, Cubuk, Cankut, Choi, Subin, Allen, Sophie, Torr, Beth, Garrett, Alice, Loveday, Chey, Durkie, Miranda, Callaway, Alison, Burghel, George J., Drummond, James, Robinson, Rachel, Berry, Ian R., Wallace, Andrew, Eccles, Diana M., Tischkowitz, Marc, Ellard, Sian, Ware, James S., Hanson, Helen, and Turnbull, Clare

Published
2022
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3. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Author

Loong, Lucy, primary, Cubuk, Cankut, additional, Choi, Subin, additional, Allen, Sophie, additional, Torr, Beth, additional, Garrett, Alice, additional, Loveday, Chey, additional, Durkie, Miranda, additional, Callaway, Alison, additional, Burghel, George J., additional, Drummond, James, additional, Robinson, Rachel, additional, Berry, Ian R., additional, Wallace, Andrew, additional, Eccles, Diana M., additional, Tischkowitz, Marc, additional, Ellard, Sian, additional, Ware, James S., additional, Hanson, Helen, additional, Turnbull, Clare, additional, Samant, S., additional, Lucassen, A., additional, Znaczko, A., additional, Shaw, A., additional, Ansari, A., additional, Kumar, A., additional, Donaldson, A., additional, Murray, A., additional, Ross, A., additional, Taylor-Beadling, A., additional, Taylor, A., additional, Innes, A., additional, Brady, A., additional, Kulkarni, A., additional, Hogg, A.-C., additional, Bowden, A. Ramsay, additional, Hadonou, A., additional, Coad, B., additional, McIldowie, B., additional, Speight, B., additional, DeSouza, B., additional, Mullaney, B., additional, McKenna, C., additional, Brewer, C., additional, Olimpio, C., additional, Clabby, C., additional, Crosby, C., additional, Jenkins, C., additional, Armstrong, C., additional, Bowles, C., additional, Brooks, C., additional, Byrne, C., additional, Maurer, C., additional, Baralle, D., additional, Chubb, D., additional, Stobo, D., additional, Moore, D., additional, O'Sullivan, D., additional, Donnelly, D., additional, Randhawa, D., additional, Halliday, D., additional, Atkinson, E., additional, Baple, E., additional, Rauter, E., additional, Johnston, E., additional, Woodward, E., additional, Maher, E., additional, Sofianopoulou, E., additional, Petrides, E., additional, Lalloo, F., additional, McRonald, F., additional, Pelz, F., additional, Frayling, I., additional, Evans, G., additional, Corbett, G., additional, Rea, G., additional, Clouston, H., additional, Powell, H., additional, Williamson, H., additional, Carley, H., additional, Thomas, H.J.W., additional, Tomlinson, I., additional, Cook, J., additional, Hoyle, J., additional, Tellez, J., additional, Whitworth, J., additional, Williams, J., additional, Murray, J., additional, Campbell, J., additional, Tolmie, J., additional, Field, J., additional, Mason, J., additional, Burn, J., additional, Bruty, J., additional, Callaway, J., additional, Grant, J., additional, Del Rey Jimenez, J., additional, Pagan, J., additional, VanCampen, J., additional, Barwell, J., additional, Monahan, K., additional, Tatton-Brown, K., additional, Ong, K.-R., additional, Murphy, K., additional, Andrews, K., additional, Mokretar, K., additional, Cadoo, K., additional, Smith, K., additional, Baker, K., additional, Brown, K., additional, Reay, K., additional, McKay Bounford, K., additional, Bradshaw, K., additional, Russell, K., additional, Stone, K., additional, Snape, K., additional, Crookes, L., additional, Reed, L., additional, Taggart, L., additional, Yarram, L., additional, Cobbold, L., additional, Walker, L., additional, Hawkes, L., additional, Busby, L., additional, Izatt, L., additional, Kiely, L., additional, Hughes, L., additional, Side, L., additional, Sarkies, L., additional, Greenhalgh, K.-L., additional, Shanmugasundaram, M., additional, Duff, M., additional, Bartlett, M., additional, Watson, M., additional, Owens, M., additional, Bradford, M., additional, Huxley, M., additional, Slean, M., additional, Ryten, M., additional, Smith, M., additional, Ahmed, M., additional, Roberts, N., additional, O'Brien, C., additional, Middleton, O., additional, Tarpey, P., additional, Logan, P., additional, Dean, P., additional, May, P., additional, Brace, P., additional, Tredwell, R., additional, Harrison, R., additional, Hart, R., additional, Kirk, R., additional, Martin, R., additional, Nyanhete, R., additional, Wright, R., additional, Davidson, R., additional, Cleaver, R., additional, Talukdar, S., additional, Butler, S., additional, Sampson, J., additional, Ribeiro, S., additional, Dell, S., additional, Mackenzie, S., additional, Hegarty, S., additional, Albaba, S., additional, McKee, S., additional, Palmer-Smith, S., additional, Heggarty, S., additional, MacParland, S., additional, Greville-Heygate, S., additional, Daniels, S., additional, Prapa, S., additional, Abbs, S., additional, Tennant, S., additional, Hardy, S., additional, MacMahon, S., additional, McVeigh, T., additional, Foo, T., additional, Bedenham, T., additional, Cranston, T., additional, McDevitt, T., additional, Clowes, V., additional, Tripathi, V., additional, McConnell, V., additional, Woodwaer, N., additional, Wallis, Y., additional, Kemp, Z., additional, Mullan, G., additional, Pierson, L., additional, Rainey, L., additional, Joyce, C., additional, Timbs, A., additional, Reuther, A.-M., additional, Frugtniet, B., additional, Husher, C., additional, Lawn, C., additional, Corbett, C., additional, Nocera-Jijon, D., additional, Reay, D., additional, Cross, E., additional, Ryan, F., additional, Lindsay, H., additional, Oliver, J., additional, Dring, J., additional, Spiers, J., additional, Harper, J., additional, Ciucias, K., additional, Connolly, L., additional, Tsang, M., additional, Brown, R., additional, Shepherd, S., additional, Begum, S., additional, Tadiso, T., additional, Linton-Willoughby, T., additional, Heppell, H., additional, Sahan, K., additional, Worrillow, L., additional, Allen, Z., additional, Barlett, M., additional, Watt, C., additional, and Hegarty, M., additional

Published
2022
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4. Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Author

Garrett, Alice, Allen, Sophie, Durkie, Miranda, Burghel, George J., Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Rowlands, Charlie F., McVeigh, Terri, Hanson, Helen, Turnbull, Clare, Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Martin, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., DeSouza, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Daniels, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Russell, K., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Duff, M., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Taylor, A., Brown, D., Willan, J., Taylor, S., Jones, K., Cox, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., O’Dubhshlaine, C., McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., and Hayden, C.

Abstract

Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance, despite increasing evidence of intervariant variability in risk associations. Using existing variant interpretation approaches, largely based on full-penetrance models, variants in which reduced penetrance is suspected may be classified inconsistently and/or as variants of uncertain significance. We aimed to develop a national consensus approach for such variants within the Cancer Variant Interpretation Group UK (CanVIG-UK) multidisciplinary network.

Published
2025
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8. Aveline's Hole: An Unexpected Twist in the Tale

Author

Schulting, R, Booth, T, Brace, Selina, Diekmann, Y, Thomas, M, Barnes, I, Meiklejohn, C, Babb, J, Budd, C, Charlton, Sophy, van der Plicht, H, Mullan, G, Wilson, L, Schulting, R, Booth, T, Brace, Selina, Diekmann, Y, Thomas, M, Barnes, I, Meiklejohn, C, Babb, J, Budd, C, Charlton, Sophy, van der Plicht, H, Mullan, G, and Wilson, L

Abstract

Aveline's Hole is the largest known Early Mesolithic cemetery in Britain, previously thought to have no evidence for subsequent burial activity. Thus, it came as some surprise when the results of a recent ancient human DNA study found that, of four individuals from the site yielding genomic data, two showed high levels of ancestry from Early Neolithic Aegean farmers. Radiocarbon dating confirmed that these two individuals were indeed British Early Neolithic in date, while the other two had the expected 'Western Hunter-Gatherer' ancestry genomic signatures, with the two groups separated in time by nearly five millennia. Moreover, the two Neolithic samples were both crania, while the two Mesolithic samples were long bones. Given the absence of Neolithic dates in the previous sizeable dating programme combined with the difficult history of the collection, i.e., the WWII bombing of its Bristol repository, this raised the question of whether the crania might in fact be from another site. As we show in this paper, a very strong case can be made that the crania do in fact originate from Aveline's Hole. Additional radiocarbon dating (14 in total, including the above mentioned four) suggests that about half the cranial elements from the site fall within the Early Neolithic, though there is still no evidence for the deposition of post-cranial remains at this time, nor is there any burial evidence in the long intervening period between the Early Mesolithic and the Early Neolithic. Intriguingly, craniometric analyses of legacy data including three crania lost in the bombing suggest that one, Aveline's Hole 'A', may be Upper Palaeolithic in date. As part of this re-investigation of the human remains from the site, we present new stable carbon and nitrogen isotope analyses that differ significantly from those originally reported for the Early Mesolithic, with the new results more in keeping with other isotopic data for this period. We also present new stable carbon and nitrogen i, Papers are available 12 months after publication and can be downloaded free of charge, without registration after this period. The attached file is the published pdf., NHM Repository

Published
2020

9. The first 500 diagnostic exomes: A demonstration of safety, clinical utility, translation and cost-effectiveness.

Author

Wilson M., Cliffe C., Elakis G., Zhu Y., Nixon C., Smith J., Turner A., Walsh M., Wallis M., Roscioli T., Worgan L., Schofield D., Lau C., Kirk E., Mead S., Buckley M., Hunter M., Fahey M., Mullan G., Lang S., Richards A., Quayum N., Ades L., Amor D., Bakshi M., Berman Y., Brown N., Chung C., Colley A., Collins F., Edwards M., Ellaway C., Ewans L., Field M., Freckmann M., Gabbett M., Goel H., Ghedia S., Goodwin L., Hackett A., Jones K., Josephi-Taylor S., Kamian B., Kennedy D., Ma A., McGillivray G., Mowat D., Palmer E., Pinner J., Rajagopalan S., Ronan A., Sachdev R., Sandaradura S., Sinnerbrink I., Wilson M., Cliffe C., Elakis G., Zhu Y., Nixon C., Smith J., Turner A., Walsh M., Wallis M., Roscioli T., Worgan L., Schofield D., Lau C., Kirk E., Mead S., Buckley M., Hunter M., Fahey M., Mullan G., Lang S., Richards A., Quayum N., Ades L., Amor D., Bakshi M., Berman Y., Brown N., Chung C., Colley A., Collins F., Edwards M., Ellaway C., Ewans L., Field M., Freckmann M., Gabbett M., Goel H., Ghedia S., Goodwin L., Hackett A., Jones K., Josephi-Taylor S., Kamian B., Kennedy D., Ma A., McGillivray G., Mowat D., Palmer E., Pinner J., Rajagopalan S., Ronan A., Sachdev R., Sandaradura S., and Sinnerbrink I.

Abstract

Purpose: Whole exome sequencing (WES) is rapidly becoming the standard of care for genetic services. We present the results of 500 clinical exomes performed at the Randwick Genetic Laboratory. Method(s): WES was performed in 204 probands with suspected Mendelian disorders, together with family members. Ampliseq RDY exome, libraries were analyzed on a Life Technologies Proton instrument. Data were analyzed using an in house pipeline with variant reporting following ACMG guidelines. Result(s): WES resulted in greater than 43% definitive findings with a small number of variants of uncertain significance. The diagnostic rate has increased over time, likely reflecting refinements in clinician referral practice as well as improved functionality of bioinformatics pipelines. Two families (1%)with Cantu and MoyaMoya syndromes had results which could lead to pharmacologic interventions. 33 families (16%) had De novo variants and seven (3.5%) were X-linked with significant implications for recurrence risk. Two prenatal diagnoses have been performed based on WES results. A diagnosis was made in 6/8 (75%) rapid turnaround studies, including two during pregnancy. Almost 10% of the diagnoses were unanticipated by the clinical teams and involved significant changes in diagnostic category. Four likely novel genes involved in known biological pathways were identified, enabling research participation. Conclusion(s): The minimum number of management changing outcomes was at least 20% within the 12 month period of this study. The number of secondary findings was small at about 1%. This demonstrates that WES is characterized by high levels of patient safety and clinical utility with likely cost effectiveness.

Published
2019

10. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1and MSH2missense variants

Author

Loong, Lucy, Cubuk, Cankut, Choi, Subin, Allen, Sophie, Torr, Beth, Garrett, Alice, Loveday, Chey, Durkie, Miranda, Callaway, Alison, Burghel, George J., Drummond, James, Robinson, Rachel, Berry, Ian R., Wallace, Andrew, Eccles, Diana M., Tischkowitz, Marc, Ellard, Sian, Ware, James S., Hanson, Helen, Turnbull, Clare, Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.-C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Baple, E., Rauter, E., Johnston, E., Woodward, E., Maher, E., Sofianopoulou, E., Petrides, E., Lalloo, F., McRonald, F., Pelz, F., Frayling, I., Evans, G., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.-R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Martin, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., DeSouza, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Daniels, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Barlett, M., Watt, C., and Hegarty, M.

Abstract

Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice.

Published
2022
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11. Skeleton Cave, Leigh Woods, Bristol

Author

Mullan, G. J., Meiklejohn, C., and Babb, J.

Subjects
Skeleton Cave
Abstract

An account is given of the discovery and excavation of this small cave in the 1960s. It is recorded that archaeological finds were made, but of these, only a single human mandible can now be traced. Radiocarbon dating shows the specimen to be early Neolithic in age; a metrical analysis was less conclusive. http://www.ubss.org.uk/resources/proceedings/vol27/UBSS_Proc_27_2_197-209.pdf

Published
2017

15. Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

Author

James, P.A., Culling, B., Mullan, G., Jenkins, M., Elakis, G., Turner, A.M., Mowat, D., Wilson, M., Anderson, P., Savarirayan, R., Cliffe, S.T., Caramins, M., Buckley, M.F., Tucker, K., Roscioli, T., James, P.A., Culling, B., Mullan, G., Jenkins, M., Elakis, G., Turner, A.M., Mowat, D., Wilson, M., Anderson, P., Savarirayan, R., Cliffe, S.T., Caramins, M., Buckley, M.F., Tucker, K., and Roscioli, T.

Abstract

Contains fulltext : 79485.pdf (publisher's version ) (Closed access), Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical diagnosis of SCS. Because of the potential importance of this finding, we organized a multicenter study enrolling people with TWIST1 mutation confirmed SCS to determine if an increased risk of cancer is present. This study did not identify any cases of breast or ovarian cancer in a cohort of equivalent power to that reported previously. These results provide clinical reassurance that at present there is no evidence for breast cancer screening above standard practice for individuals with SCS.

Published
2009

16. Novel use of radio-location for a ground investigation at Pen Park Hole, Bristol, UK

Author

Farrant, A R, Mullan, G J, Farrant, A R, and Mullan, G J

Abstract

Pen Park Hole is currently the UK's only known hydrothermal cave system. Situated under a large housing estate in north Bristol, it contains one of Britain's largest natural underground cavities, the roof of which is only a few metres below the surface. Discovered in 1669, the cave has had a long history of investigation, including being the object of the world's first published cave survey in 1683. In 2006, a telecommunication company submitted a planning proposal to erect a transmitter close to the site. Given the sensitive nature of the cave and potential uncertainties in the accuracy of a more recent cave survey, Bristol City Council planners required a better fix on the location of the cave. The urban surroundings prevented traditional geophysical techniques being used, and a ground penetrating radar survey failed because of thick residual clay soils over the site. Instead, radio-location was employed to check on the accuracy of the existing cave survey, allowing it to be geo-rectified in relation to the surface. The confirmed reliability of the survey, coupled with an assessment of the cave geomorphology, has allowed the planners to assess the potential for the proposed mast works to intersect the cave or any associated undiscovered voids.

Published
2008

17. Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

Author

Taylor, P. J, primary, Maroulis, S., additional, Mullan, G. L, additional, Pedersen, R. L, additional, Baumli, A., additional, Elakis, G., additional, Piras, S., additional, Walsh, C., additional, Prosper-Gutierrez, B., additional, De La Puente-Alonso, F., additional, Bell, C. G, additional, Mowat, D. R, additional, Johnston, H. M, additional, and Buckley, M. F, additional

Published
2007
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20. Complete Carpal Disruption of the Hand.

Author

MULLAN, G. B. and LLOYD, G. J.

Abstract

A case of radiocarpal and inter-carpal dislocations associated with a fracture-dislocation of the ulnar four carpo-metacarpal joints is presented, with a description of treatment and long term follow-up. A review of the literature shows this to be a unique combination of injuries. [ABSTRACT FROM PUBLISHER]

Published
1980
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24. James Butler Bonham : the rebel hero

Author

Flynn, Jean, Mullan, G. E. Buddy, Flynn, Jean, and Mullan, G. E. Buddy

Abstract

The rebellious young man from South Carolina (who became a lawyer) through correspondence with his childhood friend, William Barret Travis, decided to join the Texas rebellion against Mexico and died at the Alamo.

Published
1984

25. Assisted reproduction technology in multiple sclerosis.

Author

Mullan G, Hughes S, Rog D, Brex P, and Dobson R

Abstract

Competing Interests: Competing interests: GM: none. SH has received unrestricted educational grants or speaking honoraria from Biogen, Merck Serono, Novartis, Roche and Sanofi Genzyme. DR has received honoraria for speaking, advisory boards and/or traveling from Biogen, Celgene, Hikma, Janssen, MedDay, Merck, Neuraxpharm, Novartis, Roche, Sanofi Genzyme and Teva. His institution has received research income from Actelion, Biogen, GW Pharmaceuticals, Janssen, Merck Serono, Mitsubishi, Novartis, Sanofi Genzyme, Teva and TG Therapeutics. PB, in the past 5 years, has received sponsorship to attend education meetings or honoraria for attending advisory boards or speaking at meetings from Merck, Roche, Biogen, Janssen and Sanofi-Genzyme. RD has received honoraria for speaking and/or traveling from Biogen, Merck, Teva, Janssen, Esai and Sanofi. She served on advisory board of Roche, Biogen, Janssen, Sandoz and Merck. She has received grant support from Biogen, Merck, Celgene, Barts Charity, the UK MS Society, NMSS, MRC, and the Home Family Charitable Trust and is CI of the UK MS Pregnancy Register.

Published
2025
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26. Anti-LGI-1 Limbic Encephalitis and Autoimmune Epilepsy Following a Third Dose of COVID-19 Vaccination: A Case Report.

Author

Mullan G and Kinney M

Abstract

Anti-leucine rich glioma inactivated 1 (LGI-1) autoimmune encephalitis (AE) typically presents with cognitive impairment, faciobrachial dystonic seizures (FBDS) and hyponatraemia. Reports are growing of neurological complications following coronavirus disease 2019 (COVID-19) vaccination. Here we describe a 50 year old man who developed anti-LGI-1 limbic encephalitis and autoimmune epilepsy 4 days following a dose of the mRNA Pfizer COVID-19 vaccine (of note, his first two vaccinations were viral vector ChAdOX1-S). He presented with focal aware seizures characterised by short-lived episodes of confusion, emotional distress and déjà vu associated with palpitations. He also reported subacute progressive amnesia. He responded well to high-dose steroid and subsequent immunoglobulin therapy. To our knowledge, this is the first reported case of anti-LGI-1 AE following a mixed COVID-19 vaccination regimen. We aim to complement the early literature on this post-COVID-19 vaccination phenomenon., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2024.)

Published
2024
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27. Large-scale migration into Britain during the Middle to Late Bronze Age.

Author

Patterson N, Isakov M, Booth T, Büster L, Fischer CE, Olalde I, Ringbauer H, Akbari A, Cheronet O, Bleasdale M, Adamski N, Altena E, Bernardos R, Brace S, Broomandkhoshbacht N, Callan K, Candilio F, Culleton B, Curtis E, Demetz L, Carlson KSD, Edwards CJ, Fernandes DM, Foody MGB, Freilich S, Goodchild H, Kearns A, Lawson AM, Lazaridis I, Mah M, Mallick S, Mandl K, Micco A, Michel M, Morante GB, Oppenheimer J, Özdoğan KT, Qiu L, Schattke C, Stewardson K, Workman JN, Zalzala F, Zhang Z, Agustí B, Allen T, Almássy K, Amkreutz L, Ash A, Baillif-Ducros C, Barclay A, Bartosiewicz L, Baxter K, Bernert Z, Blažek J, Bodružić M, Boissinot P, Bonsall C, Bradley P, Brittain M, Brookes A, Brown F, Brown L, Brunning R, Budd C, Burmaz J, Canet S, Carnicero-Cáceres S, Čaušević-Bully M, Chamberlain A, Chauvin S, Clough S, Čondić N, Coppa A, Craig O, Črešnar M, Cummings V, Czifra S, Danielisová A, Daniels R, Davies A, de Jersey P, Deacon J, Deminger C, Ditchfield PW, Dizdar M, Dobeš M, Dobisíková M, Domboróczki L, Drinkall G, Đukić A, Ernée M, Evans C, Evans J, Fernández-Götz M, Filipović S, Fitzpatrick A, Fokkens H, Fowler C, Fox A, Gallina Z, Gamble M, González Morales MR, González-Rabanal B, Green A, Gyenesei K, Habermehl D, Hajdu T, Hamilton D, Harris J, Hayden C, Hendriks J, Hernu B, Hey G, Horňák M, Ilon G, Istvánovits E, Jones AM, Kavur MB, Kazek K, Kenyon RA, Khreisheh A, Kiss V, Kleijne J, Knight M, Kootker LM, Kovács PF, Kozubová A, Kulcsár G, Kulcsár V, Le Pennec C, Legge M, Leivers M, Loe L, López-Costas O, Lord T, Los D, Lyall J, Marín-Arroyo AB, Mason P, Matošević D, Maxted A, McIntyre L, McKinley J, McSweeney K, Meijlink B, Mende BG, Menđušić M, Metlička M, Meyer S, Mihovilić K, Milasinovic L, Minnitt S, Moore J, Morley G, Mullan G, Musilová M, Neil B, Nicholls R, Novak M, Pala M, Papworth M, Paresys C, Patten R, Perkić D, Pesti K, Petit A, Petriščáková K, Pichon C, Pickard C, Pilling Z, Price TD, Radović S, Redfern R, Resutík B, Rhodes DT, Richards MB, Roberts A, Roefstra J, Sankot P, Šefčáková A, Sheridan A, Skae S, Šmolíková M, Somogyi K, Somogyvári Á, Stephens M, Szabó G, Szécsényi-Nagy A, Szeniczey T, Tabor J, Tankó K, Maria CT, Terry R, Teržan B, Teschler-Nicola M, Torres-Martínez JF, Trapp J, Turle R, Ujvári F, van der Heiden M, Veleminsky P, Veselka B, Vytlačil Z, Waddington C, Ware P, Wilkinson P, Wilson L, Wiseman R, Young E, Zaninović J, Žitňan A, Lalueza-Fox C, de Knijff P, Barnes I, Halkon P, Thomas MG, Kennett DJ, Cunliffe B, Lillie M, Rohland N, Pinhasi R, Armit I, and Reich D

Subjects
Europe, France, Genome, Human genetics, Human Migration history, Humans, Infant, United Kingdom, Archaeology, Farmers
Abstract

Present-day people from England and Wales have more ancestry derived from early European farmers (EEF) than did people of the Early Bronze Age 1 . To understand this, here we generated genome-wide data from 793 individuals, increasing data from the Middle to the Late Bronze Age and Iron Age in Britain by 12-fold, and western and central Europe by 3.5-fold. Between 1000 and 875 BC, EEF ancestry increased in southern Britain (England and Wales) but not northern Britain (Scotland) due to incorporation of migrants who arrived at this time and over previous centuries, and who were genetically most similar to ancient individuals from France. These migrants contributed about half the ancestry of people of England and Wales from the Iron Age, thereby creating a plausible vector for the spread of early Celtic languages into Britain. These patterns are part of a broader trend of EEF ancestry becoming more similar across central and western Europe in the Middle to the Late Bronze Age, coincident with archaeological evidence of intensified cultural exchange 2-6 . There was comparatively less gene flow from continental Europe during the Iron Age, and the independent genetic trajectory in Britain is also reflected in the rise of the allele conferring lactase persistence to approximately 50% by this time compared to approximately 7% in central Europe where it rose rapidly in frequency only a millennium later. This suggests that dairy products were used in qualitatively different ways in Britain and in central Europe over this period., (© 2021. The Author(s), under exclusive licence to Springer Nature Limited.)

Published
2022
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28. Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

Author

Palmer E, Speirs H, Taylor PJ, Mullan G, Turner G, Einfeld S, Tonge B, and Mowat D

Subjects
Cohort Studies, DNA Copy Number Variations, Female, Humans, Intellectual Disability diagnosis, Male, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Chromosome Aberrations, Intellectual Disability genetics
Abstract

Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congenital anomalies, with a 10-20% diagnostic yield. An ongoing challenge for the clinician and laboratory scientist is the interpretation of variants of uncertain significance (VOUS)-usually rare, unreported genetic variants. Laboratories differ in their threshold for reporting VOUS, and clinical practice varies in how this information is conveyed to the family and what follow-up is arranged. Workflows, websites, and databases are constantly being updated to aid the interpretation of VOUS. There is a growing literature reporting new microdeletion and duplication syndromes, susceptibility, and modifier copy number variants (CNVs). Diagnostic methods are also evolving with new array platforms and genome builds. In 2010, high-resolution arrays (Affymetrix 2.7 M Oligo and SNP, 50 kB resolution) were performed on a community cohort of 67 individuals with intellectual disability of unknown aetiology. Three hundred and one CNVs were detected and analyzed using contemporary resources and a simple scoring system. Thirteen (19%) of the arrays were assessed as potentially pathogenic, 4 (6%) as benign and 50 (75%) of uncertain clinical significance. The CNV data were re-analyzed in 2012 using the contemporary interpretative resources. There was a statistically significant difference in the assessment of individual CNVs (P < 0.0001). An additional eight patients were reassessed as having a potentially pathogenic array (n = 21, 31%) and several additional susceptibility or modifier CNVs were identified. This study highlights the complexity involved in the interpretation of CMA and uniquely demonstrates how, even on the same array platform, it can be subject to change over time., (© 2013 Wiley Periodicals, Inc.)

Published
2014
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29. Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

Author

James PA, Culling B, Mullan G, Jenkins M, Elakis G, Turner AM, Mowat DM, Wilson M, Anderson P, Savarirayan R, Cliffe ST, Caramins M, Buckley MF, Tucker K, and Roscioli T

Subjects
Adolescent, Adult, Aged, Australia, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Poisson Distribution, Acrocephalosyndactylia genetics, Breast Neoplasms genetics, Nuclear Proteins genetics, Twist-Related Protein 1 genetics
Abstract

Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical diagnosis of SCS. Because of the potential importance of this finding, we organized a multicenter study enrolling people with TWIST1 mutation confirmed SCS to determine if an increased risk of cancer is present. This study did not identify any cases of breast or ovarian cancer in a cohort of equivalent power to that reported previously. These results provide clinical reassurance that at present there is no evidence for breast cancer screening above standard practice for individuals with SCS.

Published
2009
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30. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

Author

Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, and Buckley MF

Subjects
Female, Humans, Male, Minor Histocompatibility Antigens, Pedigree, Hepatic Veno-Occlusive Disease genetics, Immunologic Deficiency Syndromes genetics, Mutation, Nuclear Proteins genetics
Abstract

We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. This is the first report of the involvement of a nuclear body protein in a human primary immunodeficiency and of high-penetrance genetic mutations in hepatic veno-occlusive disease.

Published
2006
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31. Compliance of an elderly hip fracture population with secondary preventative measures. Efficacy of a simple clinical practice intervention.

Author

Street J, Lenehan B, Higgins T, Mulcahy D, and Mullan G

Subjects
Aged, Aged, 80 and over, Family Practice, Female, Hip Fractures etiology, Humans, Male, Osteoporosis complications, Prospective Studies, Recurrence, Hip Fractures prevention & control, Osteoporosis drug therapy, Patient Compliance
Abstract

Secondary pharmaceutical measures are effective in all age groups for the prevention of osteoporotic fractures. This prospective study determines the demographics of 566 consecutive osteoporotic hip fractures presenting to a Level 1 Trauma Center. We examine the efficacy of simple treatment recommendations for pharmaceutical treatment of osteoporosis and the factors determining general practitioner and patient compliance with these recommendations in a community setting. One out of four patients (24.5%) had sustained a previous fragility fracture. Mean age was 80 years. Twenty five percent were resident in a nursing home and only 10% were taking anti-resorptive therapy preoperatively. In hospital mortality was 6%, and 39% of recruited patients were dead at 12 months. By this time more than half the survivors were resident in a nursing home. The compliance with anti-resorptive therapy had increased to over 70% consequent to our simple recommendations. Significant differences in GP and patient compliance were observed between nursing home and own residence dwellers. This study demonstrates the efficacy of a simple clinical practice intervention in increasing patient and GP compliance with secondary fracture prevention measures. We also discuss many of the confounding issues determining this compliance.

Published
2006

32. Immediate impact of 'penalty points legislation' on acute hospital trauma services.

Author

Lenehan B, Street J, Barry K, and Mullan G

Subjects
Accidents, Traffic prevention & control, Emergency Medical Services, Humans, Ireland epidemiology, Length of Stay, Prospective Studies, Wounds and Injuries epidemiology, Accidents, Traffic statistics & numerical data, Automobile Driving legislation & jurisprudence
Abstract

Road traffic accident (RTA) related mortality and injury may be reduced by up to 40% with the introduction of 'road safety' legislation. Little is known regarding changes in pattern of injury and overall resource impact on acute trauma services. This prospective study examines RTA related admissions, injuries sustained and resultant sub-speciality operative workload in a Level 1 Trauma Centre during the 12 months immediately prior to and following the introduction of 'penalty points' legislation. Eight hundred and twenty RTA related admissions were identified over the 24-month period from 01/11/2001 to 31/10/2003. There was a 36.7% decrease in RTA related admissions subsequent to the introduction of new legislation. Bed occupancy was almost halved. However, the relative Orthopaedic workload increased from 34% to 41% with a 10% increase in relative bed occupancy. The pattern of orthopaedic injury was significantly altered with a >50% absolute reduction in high velocity injuries. Curiously, there was no change in the absolute number of spinal fractures seen. This favourable early Irish experience of 'penalty points' legislation mirrors that of worldwide published literature. Our findings demonstrate that the injury reduction effects were primarily enjoyed by non-orthopaedic sub-specialities. Such findings mandate consideration when allocating vital resources to sub-specialities within busy trauma units.

Published
2005
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33. An outcomes assessment of intra-articular calcaneal fractures, using patient and physician's assessment profiles.

Author

Kennedy JG, Jan WM, McGuinness AJ, Barry K, Curtin J, Cashman WF, and Mullan GB

Subjects
Adolescent, Adult, Ankle Injuries therapy, Calcaneus surgery, Casts, Surgical, Chi-Square Distribution, Combined Modality Therapy, Female, Femur Head transplantation, Fracture Fixation, Internal methods, Fractures, Bone therapy, Humans, Immobilization, Male, Middle Aged, Regression Analysis, Retrospective Studies, Surgical Wound Infection, Transplantation, Homologous, Treatment Outcome, Ankle Injuries surgery, Calcaneus injuries, Fracture Fixation methods, Fractures, Bone surgery
Abstract

Thirty-six patients with intra-articular displaced calcaneal fractures were examined to determine both physician- and patient-based outcomes. Three groups were selected. Group A was treated with open reduction and internal fixation, group B was treated with open reduction internal fixation and supplemental bone graft augmentation and the patients in group C were treated with plaster cast immobilisation and no formal operative treatment. All cohorts were well matched for age, sex and severity of injury. Patients were evaluated using both the American Foot and Ankle Society Scoring System (AFASS) and the short form 36 (SF-36). Minimum time to follow up was 4 years. No significant difference was observed between the three groups with regards to pain and functional outcomes using the AFASS score (P>0.05). No difference was observed between the three groups using the SF-36 score (P>0.1). A statistically significant difference was observed, using radiological criteria, between both groups A and B when compared to the non-operative group C. The rate of wound infection in groups A and B was 31.5%. No correlation was found between the SF-36 score and the AFASS score. No correlation was found between the radiological score and either the SF-36 or the AFASS score. This study has found that the conservative treatment of calcaneal fractures can produce satisfactory outcomes with lower morbidity than surgically treated fractures.

Published
2003
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35. Intertrochanteric fracture of the femur with ipsilateral central fracture of the acetabulum.

Author

Browne RS and Mullan GB

Subjects
Acetabulum surgery, Aged, Bone Screws, Female, Fracture Fixation, Internal methods, Fractures, Bone surgery, Hip Fractures surgery, Humans, Male, Acetabulum injuries, Fractures, Bone complications, Hip Fractures complications
Abstract

The management of three patients each of whom sustained an intertrochanteric fracture of the femur with an ipsilateral central fracture of the acetabulum is described. Complications encountered in the first patient, using a standard nail and plate type of fixation, suggested that a screw compression system should be used for this combination of injuries. This method of internal fixation was successful in the treatment of the two other patients.

Published
1980
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36. My elderly lady.

Author

Mullan G

Subjects
Aged, Community Health Services, Female, Humans, Northern Ireland, Geriatric Nursing
Published
1975

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