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

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

por Staples, Emily, Simeoni, Ilenia, Stephens, Jonathan C., Allen, Hana Lango, Wright, Penny, Davies, E. Graham, Javid, Babak, Gkrania-Klotsas, Effrossyni, Gattens, Michael, Firth, Helen, Shamardina, Olga, Deevi, Sri V.V., Prapa, Matina, Uttenthal, Ben, Kumararatne, Dinakantha, Thaventhiran, James E.D.
Publicado 2020

Rare variant contribution to human disease in 281,104 UK Biobank exomes

por Wang, Quanli, Dhindsa, Ryan S., Carss, Keren, Harper, Andrew R., Nag, Abhishek, Tachmazidou, Ioanna, Vitsios, Dimitrios, Deevi, Sri V. V., Mackay, Alex, Muthas, Daniel, Hühn, Michael, Monkley, Susan, Olsson, Henric, Wasilewski, Sebastian, Smith, Katherine R., March, Ruth, Platt, Adam, Haefliger, Carolina, Petrovski, Slavé
Publicado 2021

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

por Dhindsa, Ryan S., Mattsson, Johan, Nag, Abhishek, Wang, Quanli, Wain, Louise V., Allen, Richard, Wigmore, Eleanor M., Ibanez, Kristina, Vitsios, Dimitrios, Deevi, Sri V. V., Wasilewski, Sebastian, Karlsson, Maria, Lassi, Glenda, Olsson, Henric, Muthas, Daniel, Monkley, Susan, Mackay, Alex, Murray, Lynne, Young, Simon, Haefliger, Carolina, Maher, Toby M., Belvisi, Maria G., Jenkins, Gisli, Molyneaux, Philip L., Platt, Adam, Petrovski, Slavé
Publicado 2021

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

por Thomson, Kate L., Ormondroyd, Elizabeth, Harper, Andrew R., Dent, Tim, McGuire, Karen, Baksi, John, Blair, Edward, Brennan, Paul, Buchan, Rachel, Bueser, Teofila, Campbell, Carolyn, Carr-White, Gerald, Cook, Stuart, Daniels, Matthew, Deevi, Sri V. V., Goodship, Judith, Hayesmoore, Jesse B. G, Henderson, Alex, Lamb, Teresa, Prasad, Sanjay, Rayner-Matthews, Paula, Robert, Leema, Sneddon, Linda, Stark, Hannah, Walsh, Roddy, Ware, James S., Farrall, Martin, Watkins, Hugh C.
Publicado 2018

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

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing

por Carss, Keren J., Baranowska, Anna A., Armisen, Javier, Webb, Tom R., Hamby, Stephen E., Premawardhana, Diluka, Al-Hussaini, Abtehale, Wood, Alice, Wang, Quanli, Deevi, Sri V. V., Vitsios, Dimitrios, Lewis, Samuel H., Kotecha, Deevia, Bouatia-Naji, Nabila, Hesselson, Stephanie, Iismaa, Siiri E., Tarr, Ingrid, McGrath-Cadell, Lucy, Muller, David W., Dunwoodie, Sally L., Fatkin, Diane, Graham, Robert M., Giannoulatou, Eleni, Samani, Nilesh J., Petrovski, Slavé, Haefliger, Carolina, Adlam, David
Publicado 2020

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

Whole genome sequencing of a sporadic primary immunodeficiency cohort

por Thaventhiran, James E. D., Allen, Hana Lango, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J, Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel, Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H, Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud, Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C.
Publicado 2020