Browse by Current Cardiff authors

Sandoe, Jonathan A. T., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Albur, Mahableshwar, Bond, Stuart E., Brookes-Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130, Dark, Paul, Euden, Joanne ORCID: https://orcid.org/0000-0002-2844-6878, Hamilton, Ryan, Hellyer, Thomas P., Henley, Josie, Hopkins, Susan, Howard, Philip, Howdon, Daniel, Knox-Macaulay, Chikezie, Llewelyn, Martin J., Maboshe, Wakunyambo, McCullagh, Iain J., Ogden, Margaret, Parsons, Helena K., Partridge, David G., Powell, Neil, Prestwich, Graham, Shaw, Dominick, Shinkins, Bethany, Szakmany, Tamas ORCID: https://orcid.org/0000-0003-3632-8844, Thomas-Jones, Emma ORCID: https://orcid.org/0000-0001-7716-2786, Todd, Stacy, West, Robert M., Carrol, Enitan D. and Pallmann, Philip ORCID: https://orcid.org/0000-0001-8274-9696 2024. A retrospective propensity-score-matched cohort study of the impact of procalcitonin testing on antibiotic use in hospitalized patients during the first wave of COVID-19. Journal of Antimicrobial Chemotherapy 79 (11) , pp. 2792-2800. 10.1093/jac/dkae246

Webb, Edward J. D., Howdon, Daniel, Bestwick, Rebecca, King, Natalie, Sandoe, Jonathan A. T., Euden, Joanne ORCID: https://orcid.org/0000-0002-2844-6878, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, West, Robert, Howard, Philip, Powell, Neil, Albur, Mahableshwar, Bond, Stuart, Brookes-Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130, Dark, Paul, Hellyer, Thomas, Llewelyn, Martin, McCullagh, Iain J, Ogden, Margaret, Pallmann, Philip ORCID: https://orcid.org/0000-0001-8274-9696, Parsons, Helena, Partridge, David, Shaw, Dominick, Szakmany, Tamas ORCID: https://orcid.org/0000-0003-3632-8844, Todd, Stacy, Thomas-Jones, Emma ORCID: https://orcid.org/0000-0001-7716-2786, Carrol, Enitan D. and Shinkins, Bethany 2024. The cost-effectiveness of procalcitonin for guiding antibiotic prescribing in individuals hospitalized with COVID-19: part of the PEACH study. Journal of Antimicrobial Chemotherapy 79 (8) , pp. 1831-1842. 10.1093/jac/dkae167

Lifford, Kate J ORCID: https://orcid.org/0000-0002-9782-2080, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Cannings-John, Rebecca ORCID: https://orcid.org/0000-0001-5235-6517, Quinn-Scoggins, Harriet ORCID: https://orcid.org/0000-0002-6136-070X, Moriarty, Yvonne ORCID: https://orcid.org/0000-0002-7608-4699, Gjini, Ardiana, Goddard, Mark, Hepburn, Julie, Hughes, Jacqueline, Moore, Graham ORCID: https://orcid.org/0000-0002-6136-3978, Osborne, Kirsty, Robling, Michael ORCID: https://orcid.org/0000-0002-1004-036X, Townson, Julia ORCID: https://orcid.org/0000-0001-8679-3619, Waller, Jo, Whitelock, Victoria, Whitaker, Katriina L and Brain, Kate ORCID: https://orcid.org/0000-0001-9296-9748 2024. Satisfaction with remote consultations in primary care during COVID-19: a population survey of UK adults. British Journal of General Practice 74 (739) , e96-e103. 10.3399/BJGP.2023.0092

Crawford, Karen, Leonenko, Ganna ORCID: https://orcid.org/0000-0001-8025-661X, Baker, Emily, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Lan-Leung, Benoit, Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259, O'Donovan, Michael C. ORCID: https://orcid.org/0000-0001-7073-2379, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 and Ivanov, Dobril K. ORCID: https://orcid.org/0000-0001-6271-6301 2022. Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing. Molecular Psychiatry 10.1038/s41380-022-01926-8

Euden, Joanne ORCID: https://orcid.org/0000-0002-2844-6878, Pallmann, Philip ORCID: https://orcid.org/0000-0001-8274-9696, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Albur, Mahableshwar, Bond, Stuart E, Brookes-Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130, Dark, Paul, Hellyer, Thomas, Hopkins, Susan, Howard, Philip, Llewelyn, Martin J, Maboshe, Wakunyambo, McCullagh, Iain J, Ogden, Margaret, Parsons, Helena, Partridge, David, Powell, Neil, Shaw, Dominick, Shinkins, Bethany, Szakmany, Tamas ORCID: https://orcid.org/0000-0003-3632-8844, Todd, Stacy, Thomas-Jones, Emma ORCID: https://orcid.org/0000-0001-7716-2786, West, Robert M, Carrol, Enitan D and Sandoe, Jonathan A T 2022. Procalcitonin evaluation of antibiotic use in COVID-19 hospitalised patients (PEACH): protocol for a retrospective observational study. Methods and Protocols 5 (6) , 95. 10.3390/mps5060095

Reid, Kimberley M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik‐Jan, Haack, Tobias B., Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Scott, Richard H., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K., Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E., Campeau, Philippe M., Harvey, Robert J. and Kurian, Manju A. 2022. MED27, SLC6A7, and MPPE1 variants in a complex neurodevelopmental disorder with severe dystonia. Movement Disorders 37 (10) , pp. 2139-2146. 10.1002/mds.29147

Mullins, E., Perry, A., Banerjee, J., Townson, J. ORCID: https://orcid.org/0000-0001-8679-3619, Grozeva, D. ORCID: https://orcid.org/0000-0003-3239-8415, Milton, R., Kirby, N., Playle, R. ORCID: https://orcid.org/0000-0002-2989-1092, Bourne, T., Lees, C., Rand, Abby, Khunda, Aethele, Rozto?il, Ale?, Kermack, Alexandra J, Mackay, Ami, Verma, Amit, Ahmed, Amna, Mahdi, Amy, Fayadh, Anam, Dall'Asta, Andrea, Harrington, Andrea, Gerede, Angeliki, Nejad, Avideah, Sinha, Barkha, Peers, Beth, Hammond, Bev, Ajay, Bini, Dixon, Caroline, Everden, Caroline, Heal, Carrie, Bressington, Catherine, Wyatt, Cheryl, Flood, Chris, Möller-Christensen, Christine, O'Brien, Clare, Glenn-Sansum, Coralie, Huson, Coralie, Rallis, Dimitrios, Perkins, Donna, Southam, Donna, Wixted, Donna, Viner, Alexandra, Asghar, Anila, Nicoll, Antony, Knight, Caroline, McKeown, Gillian, Divakar, Hema, Panagiotis Christofidis, Plastiras, Satodia, Prakash, Liebling, Rachel, Arya, Rita, Kousar, Rukhsana, Gada, Ruta, Narayanan, Sankara, Iliodromiti, Stamatina, Giri, Vibha, Vasu, Vimal, Hassan, Wassim, Woodward, Zoe, Mutema, E., MK Jarvie, Eleanor, Romero, Elena, Collins, Emma, Meadows, Emma, Mills, Emma, Tanton, Emma, Vrapi, Enxhi, Darmawan, Ernawati, Barra, Fabio, Prefumo, Federico, Lee, Fidelma, Martin, Hayley L., Gbinigie, Helen, Millward, Helen, Owen, Hilary, Crawford, Isobel, Tipper, Jacqueline, Jennings, Jacqui, Raven, Jamie-Louise, Cantliffe, Jane, Radford, Jane, Cresswell, Janet, Syson, Jennifer, Brain, Jessie, Mead, Joanna, Mossop, Jude, Goddard, Julie, Grindey, Julie, Cloherty, Karen, Watkins, Karen, Robinson, Kate, Barker, Katie, Elliott, Kerry, Hinshaw, Kim, Revell, Kirsty, Camarasa, Laura, Harris, Laura, Windsor, Laurie, Sherris, Leanne, Chapman, Lianne, Bishop, Linda, Chiu Yee POON, Liona, Frankland, Lisa, Glyn-Jones, Liz, Emmet, Louise, Swaminathan, Louise, Aldika Akbar, M.I, Armstrong, Maggie, Gorti, Mahalakshmi, Black, Mairead, Malarselvi, Mani, Khare, Manjiri, Chester, Mark, Andrasova, Martina, Bray, Maryanne, Parra-Cordero, Mauro, Roland Berger, MD, Anderson, Michelle, Anim-Somuah, Millicent, XIE, Mingxing, Bourke, Miriam, Elbahnasawy, Mohamed, Sobhy Bakry, Mohamed, Shah, Ahmar, RATHER, BA, Churchill, David, Wee, Ling, Kidwai, Salman, Balling, Trevor, Amin, Allison, Essien, Sandra, Sameena Kausar, Ms, Rajeswary, Ms.Jyothi, Javaid, Muglu, Aladangady, Narendra, Shah, Neil, Bale, Nichola, Mason, Nicky, Wu, Pensée, Margarit, Lavinia, Zill-e-Huma, Rabia, Newport, Rachel, Hughes, Robin, Jokhi, Roobin, Mansfield, Roshni, Davies, Ru, Davies, Ruth, Ratcliffe, Sam, Greer, Sandra, Coxon, Sarah, Ekladios, Sarah, Stables, Sarah, McCooty, Shanteela, Gowans, Sharon, Jones, Sharon, Jaleel, Shazia, Higgins, Shelly, Halawa, Sherry, Harrington, Siân C, Robinson, Sophie, Nallapeta, Soum, Grigsby, Stephanie, Blunden, Susara, Tiziana Frusca, SSA, Sukrutha, Veerareddy, Atkinson, Vicki, Murtha, Victoria, Germán Caro, Waldo and Garner, Zoe 2022. Pregnancy and neonatal outcomes of COVID-19: The PAN-COVID study. European Journal of Obstetrics and Gynecology and Reproductive Biology 276 , pp. 161-167. 10.1016/j.ejogrb.2022.07.010

Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M., Josiah, Sunday S., Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J., Hao, Le T., Li, Hong, Stevenson, Roger E., Louie, Raymond J., Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F. Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Coury, Stephanie A., Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M., Barr, Eileen E., Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G., Monaghan, Kristin G., Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K., Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M., Berger, Sara M., Milla, Sarah S., Jaykumar, Ankita B., Cobb, Melanie H., Panchagnula, Shreyas, Duy, Phan Q., Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill. A., Friez, Michael J., Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E., Schwartz, Charles E., Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T. and Isidor, Bertrand 2022. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine 24 (9) , pp. 1941-1951. 10.1016/j.gim.2022.05.009

Anyanwu, Philip, Moriarty, Yvonne ORCID: https://orcid.org/0000-0002-7608-4699, McCutchan, Grace ORCID: https://orcid.org/0000-0002-8079-2540, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Goddard, Mark, Whitelock, Victoria, Cannings-John, Rebecca ORCID: https://orcid.org/0000-0001-5235-6517, Quinn-Scoggins, Harriet ORCID: https://orcid.org/0000-0002-6136-070X, Hughes, Jacqueline, Gjini, Ardiana, Hepburn, Julie, Osborne, Kirstie, Robling, Michael ORCID: https://orcid.org/0000-0002-1004-036X, Townson, Julia ORCID: https://orcid.org/0000-0001-8679-3619, Waller, Jo, Whitaker, Katriina L., Brown, Jamie, Brain, Kate ORCID: https://orcid.org/0000-0001-9296-9748 and Moore, Graham ORCID: https://orcid.org/0000-0002-6136-3978 2022. Health behaviour change among UK adults during the pandemic: findings from the COVID-19 Cancer Attitudes and Behaviours study. BMC Public Health 22 , 1437. 10.1186/s12889-022-13870-x

Crawford, Karen, Leonenko, Ganna ORCID: https://orcid.org/0000-0001-8025-661X, Baker, Emily, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Lan-Leung, Benoit, Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259, O'Donovan, Michael ORCID: https://orcid.org/0000-0001-7073-2379, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 and Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. [Online]. medRxiv: Cold Spring Harbor Laboratory. Available at: https://doi.org/10.1101/2022.06.29.22276952

Llewelyn, Martin J., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Howard, Philip, Euden, Joanne, Gerver, Sarah M., Hope, Russell, Heginbothom, Margaret, Powell, Neil, Richman, Colin, Shaw, Dominick, Thomas-Jones, Emma, West, Robert M., Carrol, Enitan D., Pallmann, Philip ORCID: https://orcid.org/0000-0001-8274-9696, Sandoe, Jonathan A. T., Albur, Mahableswhar, Berry, Claire, Bond, Stuart E., Brookes-Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130, Dark, Paul, Hellyer, Thomas P., Henley, Josie, Hopkins, Susan, McCullagh, Iain J., Ogden, Margaret, Parsons, Helena, Partridge, David G., Shinkins, Bethany, Szakmany, Tamas ORCID: https://orcid.org/0000-0003-3632-8844 and Todd, Stacy 2022. Impact of introducing procalcitonin testing on antibiotic usage in acute NHS hospitals during the first wave of COVID-19 in the UK: a controlled interrupted time series analysis of organization-level data. Journal of Antimicrobial Chemotherapy 77 (4) , pp. 1189-1196. 10.1093/jac/dkac017

Wilson, Rebecca ORCID: https://orcid.org/0000-0003-4709-7260, Quinn-Scoggins, Harriet ORCID: https://orcid.org/0000-0002-6136-070X, Moriarty, Yvonne ORCID: https://orcid.org/0000-0002-7608-4699, Hughes, Jacqueline, Goddard, Mark, Cannings-John, Rebecca ORCID: https://orcid.org/0000-0001-5235-6517, Whitelock, Victoria, Whitaker, Katriina L., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Townson, Julia ORCID: https://orcid.org/0000-0001-8679-3619, Osborne, Kirsty, Smits, Stephanie ORCID: https://orcid.org/0000-0001-7897-150X, Robling, Michael ORCID: https://orcid.org/0000-0002-1004-036X, Hepburn, Julie, Moore, Graham ORCID: https://orcid.org/0000-0002-6136-3978, Gjini, Ardiana, Brain, Kate ORCID: https://orcid.org/0000-0001-9296-9748 and Waller, Jo 2021. Intentions to participate in cervical and colorectal cancer screening during the COVID-19 pandemic: a mixed-methods study. Preventive Medicine 153 , 106826. 10.1016/j.ypmed.2021.106826

Quinn-Scoggins, Harriet ORCID: https://orcid.org/0000-0002-6136-070X, Cannings-John, Rebecca ORCID: https://orcid.org/0000-0001-5235-6517, Moriarty, Yvonne ORCID: https://orcid.org/0000-0002-7608-4699, Whitelock, Victoria, Whitaker, Katrina L., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Hughes, Jacqueline, Townson, Julia ORCID: https://orcid.org/0000-0001-8679-3619, Osborne, Kirstie, Goddard, Mark, McCutchan, Grace ORCID: https://orcid.org/0000-0002-8079-2540, Waller, Jo, Robling, Michael ORCID: https://orcid.org/0000-0002-1004-036X, Hepburn, Julie, Moore, Graham ORCID: https://orcid.org/0000-0002-6136-3978, Gjini, Ardiana and Brain, Kate ORCID: https://orcid.org/0000-0001-9296-9748 2021. Cancer symptom experience and help-seeking behaviour during the COVID-19 pandemic in the United Kingdom: a cross-sectional population survey. BMJ Open 11 (9) , e053095. 10.1136/bmjopen-2021-053095

Lee, Chaeyoung, Bengani, Hemant, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Moyon, Lambert, Bhatia, Shipra, Louros, Susana R., Hope, Jilly, Jackson, Adam, Prendergast, James G., Owen, Liusaidh J., Naville, Magali, Rainger, Jacqueline, Grimes, Graeme, Halachev, Mihail, Murphy, Laura C., Spasic-Boskovic, Olivera, van Heyningen, Veronica, Kind, Peter, Abbott, Catherine M., Osterweil, Emily, Raymond, F. Lucy, Roest Crollius, Hugues and FitzPatrick, David R. 2021. Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. PLoS ONE 16 (8) , e0256181. 10.1371/journal.pone.0256181

Ng, Joanne, Cortès-Saladelafont, Elisenda, Abela, Lucia, Termsarasab, Pichet, Mankad, Kshitij, Sudhakar, Sniya, Gorman, Kathleen M., Heales, Simon J.R., Pope, Simon, Biassoni, Lorenzo, Csányi, Barbara, Cain, John, Rakshi, Karl, Coutts, Helen, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Deborah, García-Cazorla, Àngels, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Raymond, F. Lucy, Pérez-Dueñas, Belén, De Goede, Christian, Pearson, Toni S., Meyer, Esther and Kurian, Manju A. 2020. DNAJC6 mutations disrupt dopamine homeostasis in juvenile parkinsonism-dystonia. Movement Disorders 35 (8) , pp. 1357-1368. 10.1002/mds.28063

Holstege, Henne, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Luckcuck, Lauren, Denning, Nicola, Marshall, Rachel, Saad, Salha, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259, Meggy, Alun, Lambert, Jean-Charles, Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., van Rooij, J., Ahmad, S., Amin, N., Norsworthy, P., Dols, O., Hummerich, H., Kawalia, A., Amouyel, P., Beecham, G., Berr, C., Bis, J., Boland, A., Bossu, P., Bouwman, F., Campion, D., Daniele, A., Dartigues, J. F., Debette, S., Deleuze, J. F., Destefano, A., Farrer, L., Fox, N., Glimberti, D., Genin, E., Haines, J., Holmes, C., Arfan Ikram, M., Ikram, M., Jansen, I., Kraaij, R., Lathrop, M., Lemstra, A., Lleo, A., Luckcuck, L., Marschall, R., Martin, E., Masullo, C., Mayeux, R., Mecocci, P., Mol, M., Morgan, K., Nacmia, B., Naj, A., Pastor, P., Pericak-Vance, M., Redon, R, Richard, A. C., Riedel-Heller, S., Rivadeneira, F., Rousseau, S., Ryan, N., Sanchez-Juan, P., Schellenberg, G., Scheltens, P., Scott, J., Seripa, D., Spalletta, G., Tijms, B., Uitterlinden, A., van der Lee, S., Wagner, M., Wallon, D., Wang, L. S., Zarea, A., Reinders, M., Clarimon, J., van Swieten, J., Hardy, J., Ramirez, A., Mead, S. H., van der Flier, W., van Duijn, C., Nicolas, G., Bellenguez, C. and Lambert, J. C. 2020. Exome sequencing identifies novel AD-associated genes. [Online]. medRxiv. Available at: http://dx.doi.org/10.1101/2020.07.22.20159251

Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V. V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B. A., Saleem, Moin A., Smith, Kenneth G. C., Stark, Hannah, Tan, Rhea Y. Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Kingston, Nathalie, Walker, Neil, Bradley, John R., Ashford, Sofie, Penkett, Christopher J., Freson, Kathleen, Stirrups, Kathleen E., Raymond, F. Lucy, Ouwehand, Willem H. and Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415 2020. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583 (7814) , pp. 96-102. 10.1038/s41586-020-2434-2

Thaventhiran, James E. D., Lango Allen, Hana, 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 J., 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 P., 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., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415 and Ponsford, Mark J. 2020. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 583 , pp. 90-95. 10.1038/s41586-020-2265-1

Steward, Charles A., Roovers, Jolien, Suner, Marie-Marthe, Gonzalez, Jose M., Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola, Margarida, Stamberger, Hannah, Hamdan, Fadi F., Ceulemans, Berten, Leroy, Patricia, Nava, Caroline, Lepine, Anne, Tapanari, Electra, Keiller, Don, Abbs, Stephen, Sanchis-Juan, Alba, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Rogers, Anthony S., Diekhans, Mark, Guigó, Roderic, Petryszak, Robert, Minassian, Berge A., Cavalleri, Gianpiero, Vitsios, Dimitrios, Petrovski, Slavé, Harrow, Jennifer, Flicek, Paul, Lucy Raymond, F., Lench, Nicholas J., Jonghe, Peter De, Mudge, Jonathan M., Weckhuysen, Sarah, Sisodiya, Sanjay M. and Frankish, Adam 2019. Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. npj Genomic Medicine 4 (1) , 31. 10.1038/s41525-019-0106-7

Romagnoni, Alberto, Jégou, Simon, Van Steen, Kristel, Wainrib, Gilles, Hugot, Jean-Pierre, Forty, Liz, Gordon-Smith, Katherine, Green, Elaine, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Jones, Ian R ORCID: https://orcid.org/0000-0001-5821-5889, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, O'Donovan, Michael C ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael J ORCID: https://orcid.org/0000-0003-4798-0862, Russell, Ellie and Craddock, Nick ORCID: https://orcid.org/0000-0003-2171-0610 2019. Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data. Scientific Reports 9 (1) , -. 10.1038/s41598-019-46649-z

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Gorman, Kathleen M., Meyer, Esther, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Spinelli, Egidio, McTague, Amy, Sanchis-Juan, Alba, Carss, Keren J., Bryant, Emily, Reich, Adi, Schneider, Amy L., Pressler, Ronit M., Simpson, Michael A., Debelle, Geoff D., Wassmer, Evangeline, Morton, Jenny, Sieciechowicz, Diana, Jan-Kamsteeg, Eric, Paciorkowski, Alex R., King, Mary D., Cross, J. Helen, Poduri, Annapurna, Mefford, Heather C., Scheffer, Ingrid E., Haack, Tobias B., McCullagh, Gary, Millichap, John J., Carvill, Gemma L., Clayton-Smith, Jill, Maher, Eamonn R., Raymond, F. 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Lewis, Glyn, Mulligan, Jean, Wiles, Nicola, Cowen, Philip, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Ikeda, Masashi, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Mason, Victoria, Nutter, David, Sharp, Deborah, Tallon, Debbie, Thomas, Laura, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Peters, Tim J. 2011. Polymorphism of the 5-HT transporter and response to antidepressants: randomised controlled trial. British Journal of Psychiatry 198 (6) , pp. 464-471. 10.1192/bjp.bp.110.082727

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Green, Elaine Karen, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Raybould, Rachel, Forty, Elizabeth, Gordon-Smith, K., Russell, Elen, St. Clair, D., Young, A.H., Ferrier, I.N., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 2011. DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156B (4) , pp. 490-492. 10.1002/ajmg.b.31187

Carroll, Liam Stuart, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Russell, Elen, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Peirce, Timothy Rowan, Georgieva, Lyudmila, Dwyer, Sarah Lynne, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Greene, E., Farmer, A., McGuffin, P., Morris, D. W., Corvin, A., Gill, M., Rujescu, D., Sham, P., Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2010. Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha. Molecular Psychiatry 15 (11) , pp. 1101-1111. 10.1038/mp.2009.96

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