How common are single gene mutations as a cause for lacunar stroke?: A targeted gene panel study

por Tan, Rhea Y.Y., Traylor, Matthew, Megy, Karyn, Duarte, Daniel, Deevi, Sri V.V., Shamardina, Olga, Mapeta, Rutendo P., Ouwehand, Willem H., Gräf, Stefan, Downes, Kate, Markus, Hugh S.
Publicado 2019

Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

por Megy, Karyn, Downes, Kate, Simeoni, Ilenia, Bury, Loredana, Morales, Joannella, Mapeta, Rutendo, Bellissimo, Daniel B., Bray, Paul F., Goodeve, Anne C., Gresele, Paolo, Lambert, Michele, Reitsma, Pieter, Ouwehand, Willem H., Freson, Kathleen
Publicado 2019

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

por Bierzynska, Agnieszka, Bull, Katherine, Miellet, Sara, Dean, Philip, Neal, Chris, Colby, Elizabeth, McCarthy, Hugh J., Hegde, Shivaram, Sinha, Manish D., Bugarin Diz, Carmen, Stirrups, Kathleen, Megy, Karyn, Mapeta, Rutendo, Penkett, Chris, Marsh, Sarah, Forrester, Natalie, Afzal, Maryam, Stark, Hannah, BioResource, NIHR, Williams, Maggie, Welsh, Gavin I., Koziell, Ania B., Hartley, Paul S., Saleem, Moin A.
Publicado 2022

Investigating genotype–phenotype relationship of extreme neuropathic pain disorders in a UK national cohort

por Themistocleous, Andreas C, Baskozos, Georgios, Blesneac, Iulia, Comini, Maddalena, Megy, Karyn, Chong, Sam, Deevi, Sri V V, Ginsberg, Lionel, Gosal, David, Hadden, Robert D M, Horvath, Rita, Mahdi-Rogers, Mohamed, Manzur, Adnan, Mapeta, Rutendo, Marshall, Andrew, Matthews, Emma, McCarthy, Mark I, Reilly, Mary M, Renton, Tara, Rice, Andrew S C, Vale, Tom A, van Zuydam, Natalie, Walker, Suellen M, Woods, Christopher Geoffrey, Bennett, David L H
Publicado 2023

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

por Bury, Loredana, Megy, Karyn, Stephens, Jonathan C., Grassi, Luigi, Greene, Daniel, Gleadall, Nick, Althaus, Karina, Allsup, David, Bariana, Tadbir K., Bonduel, Mariana, Butta, Nora V., Collins, Peter, Curry, Nicola, Deevi, Sri V. V., Downes, Kate, Duarte, Daniel, Elliott, Kim, Falcinelli, Emanuela, Furie, Bruce, Keeling, David, Lambert, Michele P., Linger, Rachel, Mangles, Sarah, Mapeta, Rutendo, Millar, Carolyn M., Penkett, Christopher, Perry, David J., Stirrups, Kathleen E., Turro, Ernest, Westbury, Sarah K., Wu, John, BioResource, NIHR, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Gresele, Paolo, Simeoni, Ilenia
Publicado 2019

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

por Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.
Publicado 2018

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

por Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M., Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L., Chung, Wendy K., Berger, Rolf M. F., Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara M. A., Kerstjens-Frederikse, Wilhelmina, Kiely, David G., Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J., Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, A. A. Roger, Wharton, John, Wort, Stephen J., Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M., Martin, Jennifer M., Li, Wei, Swift, Andrew J., Upton, Paul D., Morrell, Nicholas W., Gräf, Stefan, Valverde, Diana
Publicado 2022