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Number of items: 82.

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
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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
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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
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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
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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

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
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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
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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 ORCID: https://orcid.org/0000-0002-2844-6878, Gerver, Sarah M., Hope, Russell, Heginbothom, Margaret, Powell, Neil, Richman, Colin, Shaw, Dominick, Thomas-Jones, Emma ORCID: https://orcid.org/0000-0001-7716-2786, 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, Carrol, Enitan D., Dark, Paul, Euden, Joanne ORCID: https://orcid.org/0000-0002-2844-6878, Gerver, Sarah M., Hellyer, Thomas P., Henley, Josie, Hope, Russell, Hopkins, Susan, Howard, Philip, Llewelyn, Martin J., McCullagh, Iain J., Ogden, Margaret, Pallmann, Philip ORCID: https://orcid.org/0000-0001-8274-9696, Parsons, Helena, Partridge, David G., Powell, Neil, Richman, Colin, Sandoe, Jonathan A.T., 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 and West, Robert M. 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
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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
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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
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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
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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
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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
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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

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

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
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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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Baker, Emily, Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Leonenko, Ganna ORCID: https://orcid.org/0000-0001-8025-661X, Frizzati, Aura ORCID: https://orcid.org/0000-0002-7002-6180, Harwood, Janet, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Morgan, Kevin ORCID: https://orcid.org/0000-0003-4075-7676, Passmore, Peter, Holmes, Clives, Powell, John, Brayne, Carol, Gill, Michael, Mead, Simon, Bossu, Paola, Spalletta, Gianfranco, Goate, Alison, Crunchaga, Carlos, Maier, Wolfgang, Heun, Reinhard, Jessen, Frank, Peters, Oliver, Dichgans, Martin, Frolich, Lutz, Ramirez, Alfredo, Jones, Lesley ORCID: https://orcid.org/0000-0002-3007-4612, Hardy, John, Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301, Hill, Matthew ORCID: https://orcid.org/0000-0001-6776-8709, Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Allen, Nicholas ORCID: https://orcid.org/0000-0003-4009-186X, Morgan, Paul ORCID: https://orcid.org/0000-0003-4075-7676, Seshadri, Sudha, Schellenberg, Gerard, Amouvel, Philippe, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259 and Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 2019. Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer’s disease. PLoS ONE 14 (7) , e0218111. 10.1371/journal.pone.0218111
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Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J., French, Courtney E., Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F. Lucy and Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415 2019. Rare genetic variation in 135 families with family history suggestive of x-linked intellectual disability. Frontiers in Genetics 10 , 578. 10.3389/fgene.2019.00578
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Wei, Wei, Tuna, Salih, Keogh, Michael J., Smith, Katherine R., Aitman, Timothy J., Beales, Phil L., Bennett, David L., Gale, Daniel P., Bitner-Glindzicz, Maria A. K., Black, Graeme C., Brennan, Paul, Elliott, Perry, Flinter, Frances A., Floto, R. Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R., Markus, Hugh S., Morrell, Nicholas W., Newman, William G., Roberts, Irene, Sayer, John A., Smith, Kenneth G. C., Taylor, Jenny C., Watkins, Hugh, Webster, Andrew R., Wilkie, Andrew O. M., Williamson, Catherine, NIHR BioResource–Rare Diseases, 100, 000 Genomes Project–Rare Diseases Pilot, Ashford, Sofie, Penkett, Christopher J., Stirrups, Kathleen E., Rendon, Augusto, Ouwehand, Willem H., Bradley, John R., Raymond, F. Lucy, Caulfield, Mark, Turro, Ernest, Chinnery, Patrick F. and Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415 2019. Germline selection shapes human mitochondrial DNA diversity. Science 364 (6442) , 749. 10.1126/science.aau6520

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K., Burns, Jeffrey M., Mancuso, Michelangelo, Buxbaum, Joseph D., Bonuccelli, Ubaldo, Cairns, Nigel J., McQuillin, Andrew, Cao, Chuanhai, Livingston, Gill, Carlson, Chris S., Bass, Nicholas J., Carlsson, Cynthia M., Hardy, John, Carney, Regina M., Bras, Jose, Carrasquillo, Minerva M., Guerreiro, Rita, Allen, Mariet, Chui, Helena C., Fisher, Elizabeth, Masullo, Carlo, Crocco, Elizabeth A., DeCarli, Charles, Bisceglio, Gina, Dick, Malcolm, Ma, Li, Duara, Ranjan, Graff-Radford, Neill R., Evans, Denis A., Hodges, Angela, Faber, Kelley M., Scherer, Martin, Fallon, Kenneth B., Riemenschneider, Matthias, Fardo, David W., Heun, Reinhard, Farlow, Martin R., Kölsch, Heike, Ferris, Steven, Leber, Markus, Foroud, Tatiana M., Heuser, Isabella, Galasko, Douglas R., Giegling, Ina, Gearing, Marla, Hüll, Michael, Geschwind, Daniel H., Gilbert, John R., Morris, John, Green, Robert C., Mayo, Kevin, Growdon, John H., Feulner, Thomas, Hamilton, Ronald L., Harrell, Lindy E., Drichel, Dmitriy, Honig, Lawrence S., Cushion, Thomas D., Huentelman, Matthew J., Hollingworth, Paul, Hulette, Christine M., Hyman, Bradley T., Marshall, Rachel, Jarvik, Gail P., Meggy, Alun, Abner, Erin, Menzies, Georgina E. ORCID: https://orcid.org/0000-0002-6600-6507, Jin, Lee-Way, Leonenko, Ganna ORCID: https://orcid.org/0000-0001-8025-661X, Real, Luis M., Jun, Gyungah R., Baldwin, Clinton T., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Karydas, Anna, Russo, Giancarlo, Kaye, Jeffrey A., Kim, Ronald, Jessen, Frank, Kowall, Neil W., Vellas, Bruno, Kramer, Joel H., Vardy, Emma, LaFerla, Frank M., Jöckel, Karl-Heinz, Lah, James J., Dichgans, Martin, Leverenz, James B., Mann, David, Levey, Allan I., Pickering-Brown, Stuart, Lieberman, Andrew P., Klopp, Norman, Lunetta, Kathryn L., Wichmann, H-Erich, Lyketsos, Constantine G., Morgan, Kevin, Marson, Daniel C., Brown, Kristelle, Martiniuk, Frank, Medway, Christopher, Mash, Deborah C., Nöthen, Markus M., Masliah, Eliezer, Hooper, Nigel M., McCormick, Wayne C., Daniele, Antonio, McCurry, Susan M., Bayer, Antony ORCID: https://orcid.org/0000-0002-7514-248X, McDavid, Andrew N., Gallacher, John ORCID: https://orcid.org/0000-0002-2394-5299, McKee, Ann C., van den Bussche, Hendrik, Mesulam, Marsel, Brayne, Carol, Miller, Bruce L., Riedel-Heller, Steffi, Miller, Carol A., Miller, Joshua W., Al-Chalabi, Ammar, Morris, John C., Shaw, Christopher E., Myers, Amanda J., Wiltfang, Jens, O'Bryant, Sid, Olichney, John M., Alvarez, Victoria, Parisi, Joseph E., Singleton, Andrew B., Paulson, Henry L., Collinge, John, Perry, William R., Mead, Simon, Peskind, Elaine, Cribbs, David H., Rossor, Martin, Pierce, Aimee, Ryan, Natalie S., Poon, Wayne W., Nacmias, Benedetta, Potter, Huntington, Sorbi, Sandro, Quinn, Joseph F., Sacchinelli, Eleonora, Raj, Ashok, Spalletta, Gianfranco, Raskind, Murray, Caltagirone, Carlo, Bossù, Paola, Orfei, Maria Donata, Reisberg, Barry, Clarke, Robert, Reitz, Christiane, Smith, A David, Ringman, John M., Warden, Donald, Roberson, Erik D., Wilcock, Gordon, Rogaeva, Ekaterina, Bruni, Amalia Cecilia, Rosen, Howard J., Gallo, Maura, Rosenberg, Roger N., Ben-Shlomo, Yoav, Sager, Mark A., Mecocci, Patrizia, Saykin, Andrew J., Pastor, Pau, Cuccaro, Michael L., Vance, Jeffery M., Schneider, Julie A., Schneider, Lori S., Slifer, Susan, Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tang, Mitchell, Tanzi, Rudolph E., Trojanowski, John Q., Troncoso, Juan C., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Woltjer, Randall L., Wright, Clinton B., Yu, Chang-En, Yu, Lei, Saba, Yasaman, Pilotto, Alberto, Bullido, Maria J., Peters, Oliver, Crane, Paul K., Bennett, David, Bosco, Paola, Coto, Eliecer, Boccardi, Virginia, De Jager, Phil L., Lleo, Alberto, Warner, Nick, Lopez, Oscar L., Ingelsson, Martin, Deloukas, Panagiotis, Cruchaga, Carlos, Graff, Caroline, Gwilliam, Rhian, Fornage, Myriam, Goate, Alison M., Sanchez-Juan, Pascual, Kehoe, Patrick G., Amin, Najaf, Ertekin-Taner, Nilifur, Berr, Claudine, Debette, Stéphanie, Love, Seth, Launer, Lenore J., Younkin, Steven G., Dartigues, Jean-Francois, Corcoran, Chris, Ikram, M. Arfan, Dickson, Dennis W., Nicolas, Gael, Campion, Dominique, Tschanz, JoAnn, Schmidt, Helena, Hakonarson, Hakon, Clarimon, Jordi, Munger, Ron, Schmidt, Reinhold, Farrer, Lindsay A., Van Broeckhoven, Christine, O'Donovan, Michael C ORCID: https://orcid.org/0000-0001-7073-2379, DeStefano, Anita L., Jones, Lesley ORCID: https://orcid.org/0000-0002-3007-4612, Haines, Jonathan L., Deleuze, Jean-Francois, Owen, Michael J ORCID: https://orcid.org/0000-0003-4798-0862, Gudnason, Vilmundur, Mayeux, Richard, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Psaty, Bruce M., Ramirez, Alfredo, Wang, Li-San, Ruiz, Agustin, van Duijn, Cornelia M., Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Seshadri, Sudha, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259, Amouyel, Phillippe, Schellenberg, Gerard D., Lambert, Jean-Charles, Pericak-Vance, Margaret A., Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Con and Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consort 2019. 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Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Saad, Salha, Menzies, Georgina E. ORCID: https://orcid.org/0000-0002-6600-6507 and Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199 2019. Benefits and challenges of rare genetic variation in Alzheimer's disease. Current Genetic Medicine Reports 7 (1) , pp. 53-62. 10.1007/s40142-019-0161-5
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Yates, T. Michael, Langley, Claire L.M., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Raymond, F. Lucy and Johnson, Diana S. 2019. Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. Clinical Genetics 95 (2) , pp. 334-335. 10.1111/cge.13456

Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R., Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H., Raymond, F. Lucy and Carss, Keren J. 2018. Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. Genome Medicine 10 (1) , 95. 10.1186/s13073-018-0606-6
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de Brouwer, Arjan P.M., Abou Jamra, Rami, Körtel, Nadine, Soyris, Clara, Polla, Daniel L., Safra, Modi, Zisso, Avia, Powell, Christopher A., Rebelo-Guiomar, Pedro, Dinges, Nadja, Morin, Violeta, Stock, Michael, Hussain, Mureed, Shahzad, Mohsin, Riazuddin, Saima, Ahmed, Zubair M., Pfundt, Rolph, Schwarz, Franziska, de Boer, Lonneke, Reis, André, Grozeva, Detilina ORCID: https://orcid.org/0000-0003-3239-8415, Raymond, F. Lucy, Riazuddin, Sheikh, Koolen, David A., Minczuk, Michal, Roignant, Jean-Yves, van Bokhoven, Hans and Schwartz, Schraga 2018. Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior. American Journal of Human Genetics 103 (6) , pp. 1045-1052. 10.1016/j.ajhg.2018.10.026

Gordon-Smith, Katherine, Green, Elaine, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Tavadia, Sherine, Craddock, Nick ORCID: https://orcid.org/0000-0003-2171-0610 and Jones, Lisa 2018. Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 (8) , pp. 717-726. 10.1002/ajmg.b.32679
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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., Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter ORCID: https://orcid.org/0000-0002-6410-1324, Cookson, Victoria, Cooper, Nichola, Corris, Paul, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Dixon, Peter, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Graf, Stefan, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huis in?t Veld, Anna, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kuijpers, Taco, Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lango-Allen, Hana, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Louka, Eleni, Machado, Rajiv, Ross, Rob Mackenzie, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Othman, Shokri, Ouwehand, Willem H., Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rayner-Matthews, Paula, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Roy, Noémi, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth G.C., Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watt, Christopher, Webster, ndrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Woods, Geoff, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim and Yu, Ping 2018. Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. American Journal of Human Genetics 103 (1) , pp. 3-18. 10.1016/j.ajhg.2018.04.013
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Ito, Yoko, Carss, Keren J., Duarte, Sofia T., Hartley, Taila, Keren, Boris, Kurian, Manju A., Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, Sanchis-Juan, Alba, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Boycott, Kym M., Kernohan, Kristin D., Dyack, Sarah, Raymond, F. Lucy, Aitman, Timothy, Bennett, David, Caulfield, Mark, Chinnery, Patrick, Gale, Daniel, Koziell, Ania, Kuijpers, Taco W., Laffan, Michael A., Maher, Eamonn, Markus, Hugh S., Morrell, Nicholas W., Ouwehand, Willem H., Perry, David J., Raymond, F. Lucy, Roberts, Irene, Smith, Kenneth G.C., Thrasher, Adrian, Watkins, Hugh, Williamson, Catherine, Woods, Geoffrey, Ashford, Sofie, Bradley, John R., Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Penkett, Christopher J., Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Frary, Amy, Linger, Rachel, Martin, Jennifer M., Papadia, Sofia, Rehnstrom, Karola, Stark, Hannah, Allsup, David, Austin, Steve, Bakchoul, Tamam, Bariana, Tadbir K., Bolton-Maggs, Paula, Chalmers, Elizabeth, Collins, Janine, Collins, Peter, Erber, Wendy N., Everington, Tamara, Favier, Remi, Freson, Kathleen, Furie, Bruce, Gattens, Michael, Gebhart, Johanna, Gomez, Keith, Greene, Daniel, Greinacher, Andreas, Gresele, Paolo, Hart, Daniel, Heemskerk, Johan W.M., Henskens, Yvonne, Kazmi, Rashid, Keeling, David, Kelly, Anne M., Lambert, Michele P., Lentaigne, Claire, Liesner, Ri, Makris, Mike, Mangles, Sarah, Mathias, Mary, Millar, Carolyn M., Mumford, Andrew, Nurden, Paquita, Payne, Jeanette, Pasi, John, Peerlinck, Kathelijne, Revel-Vilk, Shoshana, Richards, Michael, Rondina, Matthew, Roughley, Catherine, Schulman, Sol, Schulze, Harald, Scully, Marie, Sivapalaratnam, Suthesh, Stubbs, Matthew, Tait, R. Campbell, Talks, Kate, Thachil, Jecko, Toh, Cheng-Hock, Turro, Ernest, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q., Watson, Henry, Westbury, Sarah, Furnell, Abigail, Mapeta, Rutendo, Rayner-Matthews, Paula, Simeoni, Ilenia, Staines, Simon, Stephens, Jonathan, Watt, Christopher, Whitehorn, Deborah, Attwood, Antony, Daugherty, Louise, Deevi, Sri V.V., Halmagyi, Csaba, Hu, Fengyuan, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Yu, Ping, von Ziegenweldt, Julie, Astle, William, Bleda, Marta, Carss, Keren J., Gräf, Stefan, Haimel, Matthias, Lango-Allen, Hana, Richardson, Sylvia, Calleja, Paul, Rankin, Stuart, Turek, Wojciech, Anderson, Julie, Bryson, Christine, Carmichael, Jenny, McJannet, Coleen, Stock, Sophie, Allen, Louise, Ambegaonkar, Gautum, Armstrong, Ruth, Arno, Gavin, Bitner-Glindzicz, Maria, Brady, Angie, Canham, Natalie, Chitre, Manali, Clement, Emma, Clowes, Virginia, Deegan, Patrick, Deshpande, Charu, Doffinger, Rainer, Firth, Helen, Flinter, Frances, French, Courtney, Gardham, Alice, Ghali, Neeti, Gissen, Paul, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Henderson, Robert, Hensiek, Anke, Holden, Simon, Holder, Muriel, Holder, Susan, Hurst, Jane, Josifova, Dragana, Krishnakumar, Deepa, Kurian, Manju A., Lees, Melissa, MacLaren, Robert, Maw, Anna, Mehta, Sarju, Michaelides, Michel, Moore, Anthony, Murphy, Elaine, Park, Soo-Mi, Parker, Alasdair, Patch, Chris, Paterson, Joan, Rankin, Julia, Reid, Evan, Rosser, Elisabeth, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Scott, Richard, Sohal, Aman, Stein, Penelope, Thomas, Ellen, Thompson, Dorothy, Tischkowitz, Marc, Vogt, Julie, Wakeling, Emma, Wassmer, Evangeline, Webster, Andrew, Ali, Sonia, Ali, Souad, Boggard, Harm J., Church, Colin, Coghlan, Gerry, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, DaCosta, Rosa, Dormand, Natalie, Eyries, Mélanie, Gall, Henning, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Ardi, Gibbs, J. Simon R., Girerd, Barbara, Greenhalgh, Alan, Hadinnapola, Charaka, Houweling, Arjan C., Humbert, Marc, in?t Veld, Anna Huis, Kennedy, Fiona, Kiely, David G., Kovacs, Gabor, Lawrie, Allan, Ross, Rob V. Mackenzie, Machado, Rajiv, Masati, Larahmie, Meehan, Sharon, Moledina, Shahin, Montani, David, Othman, Shokri, Peacock, Andrew J., Pepke-Zaba, Joanna, Pollock, Val, Polwarth, Gary, Ranganathan, Lavanya, Rhodes, Christopher J., Rue-Albrecht, Kevin, Schotte, Gwen, Shipley, Debbie, Soubrier, Florent, Southgate, Laura, Scelsi, Laura, Suntharalingam, Jay, Tan, Yvonne, Toshner, Mark, Treacy, Carmen M., Trembath, Richard, Vonk Noordegraaf, Anton, Walker, Sara, Wanjiku, Ivy, Wharton, John, Wilkins, Martin, Wort, Stephen J., Yates, Katherine, Alachkar, Hana, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Chandra, Anita, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Drewe, Elizabeth, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jolles, Stephen, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Murng, Sai, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Richter, Alex, Samarghitean, Crina, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewell, Carrock, Staples, Emily, Stauss, Hans, Thaventhiran, James, Thomas, Moira, Welch, Steve, Willcocks, Lisa, Yeatman, Nigel, Yong, Patrick, Ancliff, Phil, Babbs, Christian, Layton, Mark, Louka, Eleni, McGowan, Simon, Mead, Adam, Roy, Noémi, Chambers, Jenny, Dixon, Peter, Estiu, Cecelia, Hague, Bill, Marschall, Hanns-Ulrich, Simpson, Michael, Chong, Sam, Emmerson, Ingrid, Ginsberg, Lionel, Gosal, David, Hadden, Rob, Horvath, Rita, Mahdi-Rogers, Mohamed, Manzur, Adnan, Marshall, Andrew, Matthews, Emma, McCarthy, Mark, Reilly, Mary, Renton, Tara, Rice, Andrew, Themistocleous, Andreas, Vale, Tom, Van Zuydam, Natalie, Walker, Suellen, Ormondroyd, Liz, Hudson, Gavin, Wei, Wei, Yu Wai Man, Patrick, Whitworth, James, Afzal, Maryam, Colby, Elizabeth, Saleem, Moin, Alavijeh, Omid S., Cook, H. Terry, Johnson, Sally, Levine, Adam P., Wong, Edwin K.S., Tan, Rhea, Boycott, Kym M., MacKenzie, Alex, Majewski, Jacek, Brudno, Michael, Bulman, Dennis and Dyment, David 2018. De novo truncating mutations in WASF1 cause intellectual disability with seizures. American Journal of Human Genetics 103 (1) , pp. 144-153. 10.1016/j.ajhg.2018.06.001
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Sims, R. ORCID: https://orcid.org/0000-0002-3885-1199, Vronskaya, M., Frizatti, A., Badarinarayan, N. ORCID: https://orcid.org/0000-0002-6944-748X, Raybould, R., Morgan, T., Gerrish, A., Denning, N., Hollingworth, P., Marshall, R., Meggy, A., Menzies, G. ORCID: https://orcid.org/0000-0002-6600-6507, Leonenko, G. ORCID: https://orcid.org/0000-0001-8025-661X, Grozeva, D. ORCID: https://orcid.org/0000-0003-3239-8415, O'Donovan, M. C. ORCID: https://orcid.org/0000-0001-7073-2379, Jones, L., Owen, M. J., Price, Vaughn, Williams, J, Cushion, T D, Bayer, A ORCID: https://orcid.org/0000-0002-7514-248X and Gallacher, J ORCID: https://orcid.org/0000-0002-2394-5299 2018. Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing. [Online]. bioRxiv. Available at: https://doi.org/10.1101/294629
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Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Raymond, F. L., Botella, Maria P. and Tejada, Maria-Isabel 2018. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, Confirm Its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome. Frontiers in Genetics 9 , 7. 10.3389/fgene.2018.00007
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Green, Elaine K., Di Florio, Arianna ORCID: https://orcid.org/0000-0003-0338-2748, Forty, Liz, Gordon-Smith, Katherine, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Fraser, Christine, Richards, Alexander L., Moran, Jennifer L., Purcell, Shaun, Sklar, Pamela, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael C. ORCID: https://orcid.org/0000-0001-7073-2379, Craddock, Nick ORCID: https://orcid.org/0000-0003-2171-0610, Jones, Lisa ORCID: https://orcid.org/0000-0001-5821-5889 and Jones, Ian R. ORCID: https://orcid.org/0000-0001-5821-5889 2017. Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 174 (8) , pp. 767-771. 10.1002/ajmg.b.32572
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Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellaker, Christoffer and FitzPatrick, David R. 2017. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in Medicine 19 (8) , pp. 900-908. 10.1038/gim.2016.211
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Meyer, Esther, Carss, Keren J., Rankin, Julia, Nichols, John M. E., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Joseph, Agnel P., Mencacci, Niccolo E., Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A., Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A., Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S., Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Peters, Gregory B., Prabhakar, Prab, Reuter, Miriam S., Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M., Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T., Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J. H., Morrogh, Deborah, Pittman, Alan, Carr, Lucinda J., Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A., Toro, Camilo, Bhatia, Kailash P., Wood, Nicholas W., Kamsteeg, Erik-Jan, Chong, Wui K., Gissen, Paul, Topf, Maya, Dale, Russell C., Chubb, Jonathan R., Raymond, F. Lucy and Kurian, Manju A. 2017. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics 49 , pp. 223-237. 10.1038/ng.3740
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Riazuddin, S., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D. L., Song, Y., van Beusekom, E., Khan, A. A., Tomas-Roca, L., Rashid, M., Zahoor, M. Y., Wissink-Lindhout, W. M., Basra, M. A. R., Ansar, M., Agha, Z., van Heeswijk, K., Rasheed, F., Van de Vorst, M., Veltman, J. A., Gilissen, C., Akram, J., Kleefstra, T., Assir, M. Z., Grozeva, D. ORCID: https://orcid.org/0000-0003-3239-8415, Carss, K., Raymond, F. L., O'Connor, T. D., Riazuddin, S. A., Khan, S. N., Ahmed, Z. M., de Brouwer, A. P. M., van Bokhoven, H. and Riazuddin, S. 2017. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Molecular Psychiatry 22 (11) , pp. 1604-1614. 10.1038/mp.2016.109

Carss, Keren J., Arno, Gavin, Erwood, Marie, Stephens, Jonathan, Sanchis-Juan, Alba, Hull, Sarah, Megy, Karyn, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Penkett, Christopher, Stirrups, Kathleen, Rizzo, Roberta, Wright, Genevieve, Josifova, Dragana, Bitner-Glindzicz, Maria, Scott, Richard H., Clement, Emma, Allen, Louise, Armstrong, Ruth, Brady, Angela F., Carmichael, Jenny, Chitre, Manali, Henderson, Robert H. H., Hurst, Jane, MacLaren, Robert E., Murphy, Elaine, Paterson, Joan, Rosser, Elisabeth, Thompson, Dorothy A., Wakeling, Emma, Ouwehand, Willem H., Michaelides, Michel, Moore, Anthony T., Webster, Andrew R. and Raymond, F. Lucy 2017. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. American Journal of Human Genetics 100 (1) , pp. 75-90. 10.1016/j.ajhg.2016.12.003

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Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew and Raymond, F. Lucy 2015. Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability. Human Mutation 36 (12) , pp. 1197-1204. 10.1002/humu.22901

Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado and Ariani, Francesca 2015. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. Journal of Human Genetics 61 (2) , pp. 95-101. 10.1038/jhg.2015.118

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Baker, Kate, Gordon, Sarah L., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, van Kogelenberg, Margriet, Roberts, Nicola Y., Pike, Michael, Blair, Edward, Hurles, Matthew E., Chong, W. Kling, Baldeweg, Torsten, Kurian, Manju A., Boyd, Stewart G., Cousin, Michael A. and Raymond, F. Lucy 2015. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. Journal of Clinical Investigation 125 (4) , pp. 1670-1678. 10.1172/JCI79765

Green, E. K., Rees, E. ORCID: https://orcid.org/0000-0002-6168-9222, Walters, J. T. R. ORCID: https://orcid.org/0000-0002-6980-4053, Smith, K-G, Forty, L., Grozeva, D. ORCID: https://orcid.org/0000-0003-3239-8415, Moran, J. L., Sklar, P., Ripke, S., Chambert, K. D., Genovese, G., McCarroll, S. A., Jones, I. ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L. ORCID: https://orcid.org/0000-0001-5821-5889, Owen, M. J. ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, M. C. ORCID: https://orcid.org/0000-0001-7073-2379, Craddock, N. ORCID: https://orcid.org/0000-0003-2171-0610 and Kirov, G. ORCID: https://orcid.org/0000-0002-3427-3950 2015. Copy number variation in bipolar disorder. Molecular Psychiatry 21 (1) , pp. 89-93. 10.1038/mp.2014.174
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Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew and Raymond, F. Lucy 2014. De Novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. American Journal of Human Genetics 94 (4) , pp. 618-624. 10.1016/j.ajhg.2014.03.006

Mulle, Jennifer Gladys, Pulver, Ann E., McGrath, John A., Wolyniec, Paula S., Dodd, Anne F., Cutler, David J., Sebat, Jonathan, Malhotra, Dheeraj, Nestadt, Gerald, Conrad, Donald F., Hurles, Matthew, Barnes, Chris P., Ikeda, Masashi, Iwata, Nakao, Levinson, Douglas F., Gejman, Pablo V., Sanders, Alan R., Duan, Jubao, Mitchell, Adele A., Peter, Inga, Sklar, Pamela, O?Dushlaine, Colm T., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Hultman, Christina M., Kähler, Anna K., Sullivan, Patrick F., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950 and Warren, Stephen T. 2014. Reciprocal duplication of the Williams-Beuren Syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biological Psychiatry 75 (5) , pp. 371-7. 10.1016/j.biopsych.2013.05.040

Green, Elaine Karen, Hamshere, Marian L. ORCID: https://orcid.org/0000-0002-8990-0958, Forty, Elizabeth, Gordon-Smith, K., Fraser, Christine, Russell, Elen Elizabeth, Grozeva, Detelina Valentinova ORCID: https://orcid.org/0000-0003-3239-8415, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Moran, J. L., Purcell, S., Sklar, P., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Jones, L. ORCID: https://orcid.org/0000-0001-5821-5889, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 2013. Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample. Molecular Psychiatry 18 (12) , pp. 1302-1307. 10.1038/mp.2012.142

Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Conrad, Donald F, Barnes, Chris P, Hurles, Matthew, 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 2013. Reduced burden of very large and rare CNVs in bipolar affective disorder. Bipolar Disorders 15 (8) , pp. 893-8. 10.1111/bdi.12125

Colasanti, Alessandro, Owen, David R., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Rabiner, Eugenii A., Matthews, Paul M., Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 and Young, Allan H. 2013. Bipolar disorder is associated with the rs6971 polymorphism in the gene encoding 18kDa Translocator Protein (TSPO). Psychoneuroendocrinology 38 (11) , pp. 2826-9. 10.1016/j.psyneuen.2013.07.007

Lee, S., Ripke, S., Neale, B., Faraone, S., Purcell, S., Perlis, R., Mowry, B., Thapar, Anita ORCID: https://orcid.org/0000-0002-3689-737X, Goddard, M., Witte, J., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O., Anjorin, A., Anney, Richard ORCID: https://orcid.org/0000-0002-6083-407X, Anttila, V., Arking, D., Asherson, P., Azevedo, M., Backlund, L., Badner, J., Bailey, A., Banaschewski, T., Barchas, J., Barnes, M., Barrett, T., Bass, N., Battaglia, A., Bauer, M., Bayés, M., Bellivier, F., Bergen, S., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E., Black, D., Blackwood, D., Bloss, C., Boehnke, M., Boomsma, D., Breen, G., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N., Buitelaar, J., Bunney, W., Buxbaum, J., Byerley, W., Byrne, E., Caesar, S., Cahn, W., Cantor, R., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Cloninger, C., Collier, D., Cook, E., Coon, H., Cormand, B., Corvin, A., Coryell, W., Craig, D., Craig, I., Crosbie, J., Cuccaro, M., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., De Geus, E., Degenhardt, F., Djurovic, S., Donohoe, G., Doyle, A., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R., Edenberg, H., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A., Ferrier, I., Flickinger, M., Fombonne, E., Foroud, T., Frank, J., Franke, B., Fraser, Christine, Freedman, R., Freimer, N., Freitag, C., Friedl, M., Frisén, L., Gallagher, L., Gejman, P., Georgieva, Lyudmila, Gershon, E., Geschwind, D., Giegling, I., Gill, M., Gordon, S., Gordon-Smith, K., Green, E., Greenwood, T., Grice, D., Gross, M., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Guan, W., Gurling, H., De Haan, L., Haines, J., Hakonarson, H., Hallmayer, J., Hamilton, S., Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Hansen, T., Hartmann, A., Hautzinger, M., Heath, A., Henders, A., Herms, S., Hickie, I., Hipolito, M., Hoefels, S., Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Holsboer, F., Hoogendijk, W., Hottenga, J., Hultman, C., Hus, V., Ingason, A., Ising, M., Jamain, S., Jones, E., Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L., Tzeng, J., Kähler, A., Kahn, R., Kandaswamy, R., Keller, M., Kennedy, J., Kenny, E., Kent, L., Kim, Y., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Klauck, S., Klei, L., Knowles, J., Kohli, M., Koller, D., Konte, B., Korszun, A., Krabbendam, L., Krasucki, R., Kuntsi, J., Kwan, P., Landén, M., Långström, N., Lathrop, M., Lawrence, J., Lawson, W., Leboyer, M., Ledbetter, D., Lee, P., Lencz, T., Lesch, K., Levinson, D., Lewis, C., Li, J., Lichtenstein, P., Lieberman, J., Lin, D., Linszen, D., Liu, C., Lohoff, F., Loo, S., Lord, C., Lowe, J., Lucae, S., MacIntyre, D., Madden, P., Maestrini, E., Magnusson, P., Mahon, P., Maier, W., Malhotra, A., Mane, S., Martin, C., Martin, N., Mattheisen, M., Matthews, K., Mattingsdal, M., McCarroll, S., McGhee, K., McGough, J., McGrath, P., McGuffin, P., McInnis, M., McIntosh, A., McKinney, R., McLean, A., McMahon, F., McMahon, W., McQuillin, A., Medeiros, H., Medland, S., Meier, S., Melle, I., Meng, F., Meyer, J., Middeldorp, C., Middleton, L., Milanova, V., Miranda, A., Monaco, A., Montgomery, G., Moran, J., Moreno-De-Luca, D., Morken, G., Morris, D., Morrow, E., Moskvina, V., Muglia, P., Mühleisen, T., Muir, W., Müller-Myhsok, B., Murtha, M., Myers, R., Myin-Germeys, I., Neale, M., Nelson, S., Nievergelt, C., Nikolov, I., Nimgaonkar, V., Nolen, W., Nöthen, M., Nurnberger, J., Nwulia, E., Nyholt, D., O'Dushlaine, C., Oades, R., Olincy, A., Oliveira, G., Olsen, L., Ophoff, R., Osby, U., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Palotie, A., Parr, J., Paterson, A., Pato, C., Pato, M., Penninx, B., Pergadia, M., Pericak-Vance, M., Pickard, B., Pimm, J., Piven, J., Posthuma, D., Potash, J., Poustka, F., Propping, P., Puri, V., Quested, D., Quinn, E., Ramos-Quiroga, J., Rasmussen, H., Raychaudhuri, S., Rehnström, K., Reif, A., Ribasés, M., Rice, J., Rietschel, M., Roeder, K., Roeyers, H., Rossin, L., Rothenberger, A., Rouleau, G., Ruderfer, D., Rujescu, D., Sanders, A., Sanders, S., Santangelo, S., Sergeant, J., Schachar, R., Schalling, M., Schatzberg, A., Scheftner, W., Schellenberg, G., Scherer, S., Schork, N., Schulze, T., Schumacher, J., Schwarz, M., Scolnick, E., Scott, L., Shi, J., Shilling, P., Shyn, S., Silverman, J., Slager, S., Smalley, S., Smit, J., Smith, E., Sonuga-Barke, E., St. Clair, D., State, M., Steffens, M., Steinhausen, H., Strauss, J., Strohmaier, J., Stroup, T., Sutcliffe, J., Szatmari, P., Szelinger, S., Thirumalai, S., Thompson, R., Todorov, A., Tozzi, F., Treutlein, J., Uhr, M., van den Oord, E., Van Grootheest, G., Van Os, J., Vicente, A., Vieland, V., Vincent, J., Visscher, P., Walsh, C., Wassink, T., Watson, S., Weissman, M., Werge, T., Wienker, T., Wijsman, E., Willemsen, G., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Willsey, A., Witt, S., Xu, W., Young, A., Yu, T., Zammit, Stanley ORCID: https://orcid.org/0000-0002-2647-9211, Zandi, P., Zhang, P., Zitman, F., Zöllner, S., Devlin, B., Kelsoe, J., Sklar, P., Daly, M., O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Sullivan, P., Smoller, J., Kendler, K., Wray, N. and Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 2013. 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Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Walters, James Tynan Rhys ORCID: https://orcid.org/0000-0002-6980-4053, Smith, Rhodri, Richards, Alexander, Green, Elaine Karen, Grozeva, Detelina Valentinova ORCID: https://orcid.org/0000-0003-3239-8415, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Forty, Elizabeth, Jones, L. ORCID: https://orcid.org/0000-0001-5821-5889, Gordon-Smith, Katherine, Riley, B., O'Neill, T., Kendler, K. S., Sklar, P., Purcell, S, Kranz, J., Morris, D., Gill, M., Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Corvin, A., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2013. Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Molecular Psychiatry 18 (6) , pp. 708-712. 10.1038/mp.2012.67

Green, E., Gordon-Smith, K., Burge, S., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Munro, C., Tavadia, S., Jones, L. and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 2013. Novel ATP2A2 mutations in a large sample of individuals with Darier disease. The Journal of Dermatology 40 (4) , pp. 259-266. 10.1111/1346-8138.12082

Green, Elaine Karen, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Forty, Elizabeth, Gordon-Smith, K., Russell, Elen, Farmer, A., Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L., McGuffin, P., Moran, J. L., Purcell, S., Sklar, P., 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 2013. Association at SYNE1 in both bipolar disorder and recurrent major depression. Molecular Psychiatry 18 , pp. 614-617. 10.1038/mp.2012.48

Dizier, Marie-Hélène, Etain, Bruno, Lajnef, Mohamed, Lathrop, Mark, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Henry, Chantal, Gard, Sébastien, Jamain, Stéphane, Leboyer, Marion, Bellivier, Frank and Mathieu, Flavie 2012. Genetic heterogeneity according to age at onset in bipolar disorder: A combined positional cloning and candidate gene approach. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159B (6) , pp. 653-659. 10.1002/ajmg.b.32069

Badner, J. A., Koller, D., Foroud, T., Edenberg, H., Nurnberger, J. I., Zandi, P. P., Willour, V. L., McMahon, F. J., Potash, J. B., Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Green, Elaine Karen, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L., Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Morris, D., Segurado, R., Gill, M., Sadovnick, D., Remick, R., Keck, P., Kelsoe, J., Ayub, M., MacLean, A., Blackwood, D., Liu, C.-Y., Gershon, E. S., McMahon, W., Lyon, G. J., Robinson, R., Ross, J. and Byerley, W. 2012. Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. Molecular Psychiatry 17 (8) , pp. 818-826. 10.1038/mp.2011.89

Van Den Bossche, Maarten J., Strazisar, Mojca, De Bruyne, Stephan, Bervoets, Chris, Lenaerts, An-Sofie, De Zutter, Sonia, Nordin, Annelie, Norrback, Karl-Fredrik, Goossens, Dirk, De Rijk, Peter, Green, Elaine Karen, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Mendlewicz, Julien, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Sabbe, Bernard G., Adolfsson, Rolf, Souery, Daniel and Del-Favero, Jurgen 2012. Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159B (4) , pp. 465-475. 10.1002/ajmg.b.32053

Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Conrad, Donald F., Barnes, Chris P., Hurles, Matthew, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 and Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950 2012. Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. Schizophrenia Research 135 (1-3) , pp. 1-7. 10.1016/j.schres.2011.11.004

Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Pocklington, Andrew ORCID: https://orcid.org/0000-0002-2137-0452, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301, Ikeda, M., Ruderfer, D., Moran, J., Chambert, K., Toncheva, D., Georgieva, Lyudmila, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Fjodorova, Marija, Wollerton, Rebecca Louise, Rees, Elliott ORCID: https://orcid.org/0000-0002-6168-9222, Nikolov, Ivan, van de Lagemaat, L. N., Bayés, À., Fernandez, E., Olason, P. I., Böttcher, Y., Komiyama, N. H., Collins, M. O., Choudhary, J., Stefansson, K., Stefansson, H., Grant, S. G. N., Purcell, S., Sklar, P., O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2012. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Molecular Psychiatry 17 (2) , pp. 142-153. 10.1038/mp.2011.154
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Sklar, Pamela, Ripke, Stephan, Scott, Laura J., Andreassen, Ole A., Cichon, Sven, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Edenberg, Howard J., Nurnberger, John I., Rietschel, Marcella, Blackwood, Douglas, Corvin, Aiden, Flickinger, Matthew, Guan, Weihua, Mattingsdal, Morten, McQuillin, Andrew, Kwan, Phoenix, Wienker, Thomas F., Daly, Mark, Dudbridge, Frank, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Lin, Danyu, Burmeister, Margit, Greenwood, Tiffany A., Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Muglia, Pierandrea, Smith, Erin N., Zandi, Peter P., Nievergelt, Caroline M., McKinney, Rebecca, Shilling, Paul D., Schork, Nicholas J., Bloss, Cinnamon S., Foroud, Tatiana, Koller, Daniel L., Gershon, Elliot S., Liu, Chunyu, Badner, Judith A., Scheftner, William A., Lawson, William B., Nwulia, Evaristus A., Hipolito, Maria, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J., Schulze, Thomas G., Berrettini, Wade, Lohoff, Falk W., Potash, James B., Mahon, Pamela B., McInnis, Melvin G., Zöllner, Sebastian, Zhang, Peng, Craig, David W., Szelinger, Szabocls, Barrett, Thomas B., Breuer, René, Meier, Sandra, Strohmaier, Jana, Witt, Stephanie H., Tozzi, Federica, Farmer, Anne, McGuffin, Peter, Strauss, John, Xu, Wei, Kennedy, James L., Vincent, John B., Matthews, Keith, Day, Richard, Ferreira, Manuel A., O'Dushlaine, Colm, Perlis, Roy, Raychaudhuri, Soumya, Ruderfer, Douglas, Hyoun, Phil L., Smoller, Jordan W., Li, Jun, Absher, Devin, Thompson, Robert C., Meng, Fan Guo, Schatzberg, Alan F., Bunney, William E., Barchas, Jack D., Jones, Edward G., Watson, Stanley J., Myers, Richard M., Akil, Huda, Boehnke, Michael, Chambert, Kim, Moran, Jennifer, Scolnick, Ed, Djurovic, Srdjan, Melle, Ingrid, Morken, Gunnar, Gill, Michael, Morris, Derek, Quinn, Emma, Mühleisen, Thomas W., Degenhardt, Franziska A., Mattheisen, Manuel, Schumacher, Johannes, Maier, Wolfgang, Steffens, Michael, Propping, Peter, Nöthen, Markus M., Anjorin, Adebayo, Bass, Nick, Gurling, Hugh, Kandaswamy, Radhika, Lawrence, Jacob, McGhee, Kevin, McIntosh, Andrew, McLean, Alan W., Muir, Walter J., Pickard, Benjamin S., Breen, Gerome, St. Clair, David, Caesar, Sian, Gordon-Smith, Katherine, Jones, Lisa, Fraser, Christine, Green, Elaine Karen, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Nikolov, Ivan, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Collier, David A., Elkin, Amanda, Williamson, Richard, Young, Allan H., Ferrier, I. Nicol, Stefansson, Kari, Stefansson, Hreinn, Þorgeirsson, Þorgeir, Steinberg, Stacy, Gustafsson, Ómar, Bergen, Sarah E., Nimgaonkar, Vishwajit, Hultman, Christina, Landén, Mikael, Lichtenstein, Paul, Sullivan, Patrick, Schalling, Martin, Osby, Urban, Backlund, Lena, Frisén, Louise, Langstrom, Niklas, Jamain, Stéphane, Leboyer, Marion, Etain, Bruno, Bellivier, Frank, Petursson, Hannes, Sigur∂sson, Engilbert, Müller-Mysok, Bertram, Lucae, Susanne, Schwarz, Markus, Schofield, Peter R., Martin, Nick, Montgomery, Grant W., Lathrop, Mark, Óskarsson, Högni, Bauer, Michael, Wright, Adam, Mitchell, Philip B., Hautzinger, Martin, Reif, Andreas, Kelsoe, John R. and Purcell, Shaun M. 2011. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 [Letter]. Nature Genetics 43 (10) , pp. 977-983. 10.1038/ng.943

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

Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Russo, Giancarlo, Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Dwyer, Sarah Lynne, Smith, Rhodri L., Green, Elaine Karen, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2011. Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Human Molecular Genetics 20 (2) , pp. 387-391. 10.1093/hmg/ddq471

Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Green, Elaine Karen, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Bass, N., McQuillin, A., Gurling, H., St Clair, D., Young, A. H., Ferrier, I. N., Farmer, Anne, McGuffin, Peter, Sklar, P., Purcell, S., Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 2011. Polygenic dissection of the bipolar phenotype. British Journal of Psychiatry 198 (4) , pp. 284-288. 10.1192/bjp.bp.110.087866

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

Green, Elaine Karen, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Caesar, S, Gordon-Smith, K., Fraser, Christine, Forty, Elizabeth, Russell, Elen Elizabeth, Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Nikolov, Ivan, Farmer, A., McGuffin, P., Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, 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 2010. The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia. Molecular Psychiatry 15 (10) , pp. 1016-1022. 10.1038/mp.2009.49

Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Jones, Lisa, Green, Elaine Karen, St Clair, David M., Young, Allan H., Ferrier, Nicol, Farmer, Anne E., McGuffin, Peter, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, 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 2010. Rare copy number variants: A point of rarity in genetic risk for bipolar disorder and schizophrenia. Archives of General Psychiatry 67 (4) , pp. 318-327. 10.1001/archgenpsychiatry.2010.25

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