Search Results - "Nyanhete, R."

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) by Allen, Sophie, Durkie, Miranda, Burghel, George J., Palmer-Smith, Sheila, McDevitt, Trudi, Garrett, A., Loong, L., Torr, B., Allen, S., Berry, I.R., Eccles, D.M., Tischkowitz, M., Evans, D.G., Lalloo, F., Kumar, A., Ross, A., Hogg, A.C., McIldowie, B., Olimpio, C., Clabby, C., Byrne, C., Moore, D., Donnelly, D., Atkinson, E., Johnston, E., Powell, H., Hoyle, J., Murray, J., Callaway, J., Murphy, K., Cadoo, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Reed, L., Hawkes, L., Kiely, L., Side, L., Shanmugasundaram, M., Duff, M., Ahmed, M., O'Brien, C., Middleton, O., Logan, P., Tredwell, R., Harrison, R., Nyanhete, R., Davidson, R., Butler, S., Dell, S., Greville-Heygate, S., Tennant, S., McVeigh, T., Clowes, V., Kemp, Z., Joyce, C., Timbs, A., Husher, C., Reay, D., Harper, J., Linton-Willoughby, T., Watt, C., Mitchell, R., Nickless, G., McCarthy, C., Botosneanu, S., Sherlaw, C., Forde, C., Petley, E., Braham, R., Hanington, L., Irving, R., Gabriel, J., Chiecchio, L., Cloke, V., Pleasance, B., Whitehouse, H., Sau, C., Massey, H., Gillespie, K., Alder, A., Cassidy, C., Orfali, N., Luharia, A., Andreou, A., Edis, M., Callard, A., Ostrowski, P., Freestone, L., Whitworth, A., Mutch, S., Begum, R., Smith, C., Taylor, S., McSorley, L., Alexopoulos, P., Moore, R., Kosicka-Slawinska, M., Ali, F.

“…Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance,…”
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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants by Loong, Lucy, Cubuk, Cankut, Garrett, Alice, Loveday, Chey, Durkie, Miranda, Wallace, Andrew, Eccles, Diana M., Tischkowitz, Marc, Ellard, Sian, Ware, James S., Turnbull, Clare, Ansari, A., Kumar, A., Donaldson, A., Brady, A., Hogg, A.-C., Bowden, A. Ramsay, Coad, B., Speight, B., DeSouza, B., Olimpio, C., Clabby, C., Byrne, C., Maurer, C., Baralle, D., Moore, D., Donnelly, D., Atkinson, E., Baple, E., Woodward, E., Petrides, E., McRonald, F., Pelz, F., Rea, G., Powell, H., Carley, H., Thomas, H.J.W., Cook, J., Hoyle, J., Murray, J., Field, J., Burn, J., Bruty, J., Grant, J., Barwell, J., Monahan, K., Tatton-Brown, K., Mokretar, K., Reay, K., Russell, K., Stone, K., Reed, L., Cobbold, L., Busby, L., Izatt, L., Side, L., Sarkies, L., Bartlett, M., Watson, M., Bradford, M., Huxley, M., Ryten, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Hart, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Talukdar, S., Butler, S., Ribeiro, S., Daniels, S., Abbs, S., Foo, T., Bedenham, T., Cranston, T., Woodwaer, N., Wallis, Y., Mullan, G., Reuther, A.-M., Lawn, C., Nocera-Jijon, D., Cross, E., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Tadiso, T., Sahan, K., Worrillow, L., Barlett, M., Watt, C.

“…Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert…”
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Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation by McCreary, Dara, Omoyinmi, Ebun, Hong, Ying, Mulhern, Ciara, Papadopoulou, Charalampia, Casimir, Marina, Hacohen, Yael, Nyanhete, Rodney, Ahlfors, Helena, Cullup, Thomas, Lim, Ming, Gilmour, Kimberly, Mankad, Kshitij, Wassmer, Evangeline, Berg, Stefan, Hemingway, Cheryl, Brogan, Paul, Eleftheriou, Despina

“…Neuroinflammatory disorders are a range of severe neurological disorders causing brain and spinal inflammation and are now increasingly recognized in the…”
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