Sergey Nezhentsev

, (Principal Investigator)

19972020

Research output per year

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Search results

  • 2020

    Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

    Thaventhiran, J. E. D., Lango Allen, H., Burren, O. S., Rae, W., Greene, D., Staples, E., Zhang, Z., Farmery, J. H. R., Simeoni, I., Rivers, E., Maimaris, J., Penkett, C. J., Stephens, J., Deevi, S. V. V., Sanchis-Juan, A., Gleadall, N. S., Thomas, M. J., Sargur, R. B., Gordins, P., Baxendale, H. E. & 616 others, Brown, M., Tuijnenburg, P., Worth, A., Hanson, S., Linger, R. J., Buckland, M. S., Rayner-Matthews, P. J., Gilmour, K. C., Samarghitean, C., Seneviratne, S. L., Sansom, D. M., Lynch, A. G., Megy, K., Ellinghaus, E., Ellinghaus, D., Jorgensen, S. F., Karlsen, T. H., Stirrups, K. E., Cutler, A. J., Kumararatne, D. S., Chandra, A., Edgar, J. D. M., Herwadkar, A., Cooper, N., Grigoriadou, S., Huissoon, A. P., Goddard, S., Jolles, S., Schuetz, C., Boschann, F., Abbs, S., Adhya, Z., Adlard, J., Afzal, M., Ahmed, I., Ahmed, M., Ahmed, S., Aitman, T. J., Alachkar, H., Alamelu, J., Alikhan, R., Allen, C. E., Allen, L., Allsup, D. J., Alvi, A., Ambegaonkar, G., Anantharachagan, A., Ancliff, P., Anderson, J., Antrobus, R., Armstrong, R., Arno, G., Arumugakani, G., Arya, R., Ashford, S., Astle, W. J., Attwood, A., Austin, S., Aydinok, Y., Ayub, W., Babbs, C., Bacchelli, C., Baglin, T., Bakchoul, T., Bariana, T. K., Barratt, J., Barwell, J., Baski, J., Bates, R. W., Batista, J., Baxendale, H. E., Baynam, G., Bennett, D. L., Bethune, C., Bhatnagar, N., Bibi, S., Bierzynska, A., Biss, T., Bitner-Glindzicz, M. A. K., Bleda, M., Blesneac, I., Boardman, B., Boddana, P., Bogaard, H. J., Booth, C., Boyce, S., Bradley, J. R., Brady, A., Breen, G., Brennan, P., Brewer, C., Briley, A., Brown, M., Brown, R., Browning, M. J., Brownlie, M., Bryson, C. J., Buchan, R. J., Buck, J., Buckland, M. S., Bueser, T., Diz, C. B., Burns, S. O., Burren, O. S., Calleja, P., Carmichael, J., Carr-White, G., Carss, K. J., Casey, R., Chalmers, E., Chambers, J., Chambers, J., Chan, M. M. Y., Chan, M. V., Chandra, A., Cheng, F., Chinn, I. K., Chinnery, P. F., Chitre, M., Chong, S., Christian, M. T., Church, C., Clement, E. M., Brod, N. C., Clifford, H., Clowes, V. E., Coghlan, G., Colby, E., Cole, T. R. P., Collins, J. H., Collins, P. W., Condliffe, R., Cook, H. T., Cook, S., Cookson, V., Cooper, N., Corris, P. A., Creaser-Myers, A., Crisp-Hihn, A., Curry, N. S., Cutler, A. J., Da Costa, R., Danesino, C., Daniels, M. J., Darby, D., Daugherty, L. C., Davies, E. G., Davies, S., Davis, J., de Bree, G. J., Deacock, S., Deegan, P. B., Deevi, S. V. V., Dempster, J., Dent, T., Deshpande, C., Devlin, L. A., Dewhurst, E. F., Dixit, A. K., Dixon, P. H., Doffinger, R., Dolling, H., Dormand, N., Downes, K., Drazyk, A. M., Drewe, E., Duarte, D., Dutt, T., Edgar, J. D. M., Edwards, K. E., Egner, W., Ekani, M. N., El-Shanawany, T., Elkhalifa, S., Elston, T., Emmerson, I., Erber, W. N., Erwood, M., Estiu, M. C., Evans, D. G., Evans, G., Everington, T., Eyries, M., Farmery, J. H. R., Favier, R., Firth, H. V., Fitzpatrick, M. M., Fletcher, D., Flinter, F. A., Fox, J. C., Frary, A. J., French, C. E., Freson, K., Frontini, M., Furie, B., Gale, D. P., Gall, H. J., Gardham, A., Gaspar, H. B., Gattens, M., Ghali, N., Ghataorhe, P. K., Ghio, S., Ghofrani, H. A., Ghurye, R., Gibbs, J. S. R., Gilbert, R. D., Gilmour, K. C., Girerd, B., Girling, J. C., Gissen, P., Gleadall, N. S., Goddard, S., Gordins, P., Gorman, K. M., Gosal, D., Graf, S., Grassi, L., Greene, D., Greenhalgh, A. J., Greenhalgh, L., Greinacher, A., Gresele, P., Griffiths, P. G., Griffiths, S., Grigoriadou, S., Grozeva, D., Hackett, S. J., Hadden, R. D. M., Hadinnapola, C., Hague, R., Hague, W. M., Haimel, M., Hall, M., Halmagyi, C., Hammerton, T., Hanson, H. L., Harkness, K., Harper, A. R., Harper, L., Harris, C., Harrison, C., Hart, D., Hassan, A., Hayman, G., Heemskerk, J. W. M., Hegde, S., Henderson, A., Henderson, R. H., Hensiek, A., Henskens, Y. M. C., Herwadkar, A., Hodgson, J., Hoffman, J., Holden, S., Holder, M., Horvath, R., Houlden, H., Houweling, A. C., Howard, L. S., Hu, F., Hudson, G., Hughes, S., Hughes, S., Huis in ‘t Veld, A. E., Huissoon, A. P., Humbert, M., Hurles, M. E., Hurst, J. A., Irvine, V., Izatt, L., James, R., Jeevaratnam, P., Johnson, M., Johnson, S. A., Jolles, S., Jolley, J. D., Jones, B., Jones, J., Josifova, D., Jurkute, N., Karim, Y. M., Karoshi, M. A., Kasanicki, M. A., Kazkaz, H., Kazmi, R., Keeling, D., Kelleher, P., Kelly, A. M., Kempster, C., Kennedy, F., Kiani, S., Kiely, D. G., Kingston, N., Kinsey, S., Klein, N., Klima, R., Knox, E., Kostadima, M. A., Kovacs, G., Koziell, A. B., Kreuzhuber, R., Krishnakumar, D., Kuijpers, T. W., Kumar, A., Kumararatne, D. S., Kurian, M. A., Laffan, J., Laffan, M. A., Lalloo, F., Lambert, M. P., Lango Allen, H., Lawman, S. H. A., Lawrie, A., Layton, D. M., Lear, S. E., Lees, M. M., Lentaigne, C., Levine, A. P., Lewington, A. J. P., Li, W., Liesner, R., Linger, R. J., Liu, B., Longhurst, H., Lorenzo, L. E., Louka, E., Hadeler, S. L., Lyons, P. A., Macdougall, M., Machado, R. D., MacKenzie Ross, R. V., Mackillop, L. H., MacLaren, R., Madan, B., Magee, L., Mahdi-Rogers, M., Maher, E. R., Maimaris, J., Makris, M., Mangles, S., Manson, A., Manzur, A., Mapeta, R., Marchbank, K. J., Mark, P. B., Marks, S., Markus, H. S., Marschall, H. U., Marshall, A., Martin, J. M., Masati, L., Mathias, M., Matser, V., Matthews, E. L., Maw, A., Maxwell, H., McAlinden, P., McCarthy, M. I., McDermott, E. M., McGowan, S. J., McJannet, C., McKinney, H., Meacham, S., Mead, A. J., Castello, I. M., Meehan, S., Megy, K., Mehta, S., Mercer, C. L., Michaelides, M., Michell, A. C., Milford, D., Millar, C. M., Millar, H., Mistry, A., Moenen, F., Moledina, S., Montani, D., Moore, A. T., Moore, J., Morrell, N. W., Morrisson, V., Mozere, M., Muir, K. W., Mumford, A. D., Murng, S. H. K., Nasir, I., Nejentsev, S., Newnham, M., Ng, J., Ngoh, A., Noorani, S., Noori, M., Nurden, P., O’Sullivan, J. M., Obaji, S., Okoli, S., Oksenhendler, E., Olschewski, A., Olschewski, H., Ong, A. C. M., Ong, K. R., Oram, H., Ormondroyd, E., Othman, S., Ouwehand, W. H., Pantazis, A., Papadia, S., Papandreou, A., Park, S. M., Parker, A. P. J., Parry, D., Parsons, G., Pasi, K. J., Paterson, J., Payne, J. H., Peacock, A. J., Peerlinck, K., Penkett, C. J., Pepke-Zaba, J., Perry, D., Petersen, R., Piechowski-Jozwiak, B., Pinto, F., Polwarth, G. J., Ponsford, M. J., Prasad, S., Prokopenko, I., Psaila, B., Pyle, A., Qasim, W., Quinn, E., Quinti, I., Raina, S., Ranganathan, L., Rankin, J., Rankin, S., Rao, A., Raymond, F. L., Rayner-Matthews, P. J., Rehnstrom, K., Reid, E., Reilly, M. M., Renton, T., Revel-Vilk, S., Rhodes, C. J., Rice, A. S. C., Richards, E. E., Richards, M., Richardson, S., Richter, A., Robert, L., Roberts, I., Rondina, M. T., Rosser, E., Rothwell, P., Roughley, C., Roy, N. B., Rue-Albrecht, K., Sadeghi-Alavijeh, O., Saleem, M. A., Salmon, R. M., Samani, N. J., Samarghitean, C., Sambrook, J. G., Sanchis-Juan, A., Sandford, R., Santra, S., Sargur, R. B., Satchell, S. C., Savic, S., Scelsi, L., Schotte, G., Schulman, S., Schulze, H., Scott, R., Scully, M., Searle, C., Seeger, W., Seneviratne, S. L., Sewell, W. A. C., Seyres, D., Shackley, F., Shamardina, O., Shapiro, S. E., Sharma, P., Shehata, H. A., Shipley, D., Shtoyerman, R., Sibson, K., Side, L., Simeoni, I., Simpson, M., Sims, M. C., Sinha, M. D., Sivapalaratnam, S., Skytte, A. B., Smith, K. G. C., Snape, K., Sneddon, L., Sohal, A., Soubrier, F., Southgate, L., Southwood, M., Splitt, M., Staines, S., Staples, E., Stark, H., Stauss, H., Steele, C. L., Stein, D., Stein, P. E., Stephens, J., Stirrups, K. E., Stock, S., Stubbs, M. J., Suntharalingam, J., Swietlik, E. M., Symington, E., Tait, R. C., Talks, K., Tan, R. Y. Y., Taylor, G. B., Thachil, J., Thaventhiran, J. E. D., Themistocleous, A. C., Thomas, D. C., Thomas, E., Thomas, M. J., Thomas, P., Thompson, D. A., Thomson, K., Thrasher, A. J., Thys, C., Tilly, T., Tischkowitz, M., Titterton, C., Todd, J. A., Toh, C. H., Tool, A. T. J., Toshner, M. R., Traylor, M., Treacy, C. M., Treadaway, P., Trembath, R. C., Trippier, S., Tuna, S., Turek, W., Turro, E., Upton, P. D., Urniaz, R., Vale, T., Van Geet, C., van Zuydam, N., Vandersteen, A. M., Vazquez-Lopez, M., Veltman, M. W. M., Vogt, J., von Ziegenweidt, J., Noordegraaf, A. V., Vora, A., Vries, M. J. A., Wakeling, E. L., Walker, N., Walker, S. M., Walsh, R., Wanjiku, I., Ware, J. S., Warner, T. Q., Wassmer, E., Watkins, H., Watson, H. G., Watt, C., Waugh, D., Webb, N., Webster, A. R., Wei, W., Welch, A., Welch, S. B., Werring, D., Wessels, J., Westbury, S. K., Westwood, J. P. W., Wharton, J., Whitehorn, D., Whitworth, J., Wilkins, M. R., Willcocks, L., Williams, D. J., Williamson, C., Wong, E. K. S., Wood, N., Wood, Y., Woods, C. G., Woodward, E. R., Workman, S., Wort, S. J., Worth, A., Yates, K., Yeatman, N., Yong, P. F. K., Young, T., Yu, P., Yu-Wai-Man, P., Zlamalova, E., Lyons, P. A., Hurles, M. E., Savic, S., Burns, S. O., Kuijpers, T. W., Turro, E., Ouwehand, W. H., Thrasher, A. J., Smith, K. G. C. & Primary Immunodeficiency Consortium for the NIHR Bioresource, 6 Aug 2020, In : Nature. 584, 7819, p. E2

    Research output: Contribution to journalComment/Letter to the editorAcademic

    Open Access
  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Thaventhiran, J. E. D., Lango Allen, H., Burren, O. S., Rae, W., Greene, D., Staples, E., Zhang, Z., Farmery, J. H. R., Simeoni, I., Rivers, E., Maimaris, J., Penkett, C. J., Stephens, J., Deevi, S. V. V., Sanchis-Juan, A., Gleadall, N. S., Thomas, M. J., Sargur, R. B., Gordins, P., Baxendale, H. E. & 616 others, Brown, M., Tuijnenburg, P., Worth, A., Hanson, S., Linger, R. J., Buckland, M. S., Rayner-Matthews, P. J., Gilmour, K. C., Samarghitean, C., Seneviratne, S. L., Sansom, D. M., Lynch, A. G., Megy, K., Ellinghaus, E., Ellinghaus, D., Jorgensen, S. F., Karlsen, T. H., Stirrups, K. E., Cutler, A. J., Kumararatne, D. S., Chandra, A., Edgar, J. D. M., Herwadkar, A., Cooper, N., Grigoriadou, S., Huissoon, A. P., Goddard, S., Jolles, S., Schuetz, C., Boschann, F., Abbs, S., Adhya, Z., Adlard, J., Afzal, M., Ahmed, I., Ahmed, M., Ahmed, S., Aitman, T. J., Alachkar, H., Alamelu, J., Alikhan, R., Allen, C. E., Allen, L., Allsup, D. J., Alvi, A., Ambegaonkar, G., Anantharachagan, A., Ancliff, P., Anderson, J., Antrobus, R., Armstrong, R., Arno, G., Arumugakani, G., Arya, R., Ashford, S., Astle, W. J., Attwood, A., Austin, S., Aydinok, Y., Ayub, W., Babbs, C., Bacchelli, C., Baglin, T., Bakchoul, T., Bariana, T. K., Barratt, J., Barwell, J., Baski, J., Bates, R. W., Batista, J., Baxendale, H. E., Baynam, G., Bennett, D. L., Bethune, C., Bhatnagar, N., Bibi, S., Bierzynska, A., Biss, T., Bitner-Glindzicz, M. A. K., Bleda, M., Blesneac, I., Boardman, B., Boddana, P., Bogaard, H. J., Booth, C., Boyce, S., Bradley, J. R., Brady, A., Breen, G., Brennan, P., Brewer, C., Briley, A., Brown, M., Brown, R., Browning, M. J., Brownlie, M., Bryson, C. J., Buchan, R. J., Buck, J., Buckland, M. S., Bueser, T., Diz, C. B., Burns, S. O., Burren, O. S., Calleja, P., Carmichael, J., Carr-White, G., Carss, K. J., Casey, R., Chalmers, E., Chambers, J., Chambers, J., Chan, M. M. Y., Chan, M. V., Chandra, A., Cheng, F., Chinn, I. K., Chinnery, P. F., Chitre, M., Chong, S., Christian, M. T., Church, C., Clement, E. M., Brod, N. C., Clifford, H., Clowes, V. E., Coghlan, G., Colby, E., Cole, T. R. P., Collins, J. H., Collins, P. W., Condliffe, R., Cook, H. T., Cook, S., Cookson, V., Cooper, N., Corris, P. A., Creaser-Myers, A., Crisp-Hihn, A., Curry, N. S., Cutler, A. J., Da Costa, R., Danesino, C., Daniels, M. J., Darby, D., Daugherty, L. C., Davies, E. G., Davies, S., Davis, J., de Bree, G. J., Deacock, S., Deegan, P. B., Deevi, S. V. V., Dempster, J., Dent, T., Deshpande, C., Devlin, L. A., Dewhurst, E. F., Dixit, A. K., Dixon, P. H., Doffinger, R., Dolling, H., Dormand, N., Downes, K., Drazyk, A. M., Drewe, E., Duarte, D., Dutt, T., Edgar, J. D. M., Edwards, K. E., Egner, W., Ekani, M. N., El-Shanawany, T., Elkhalifa, S., Elston, T., Emmerson, I., Erber, W. N., Erwood, M., Estiu, M. C., Evans, D. G., Evans, G., Everington, T., Eyries, M., Farmery, J. H. R., Favier, R., Firth, H. V., Fitzpatrick, M. M., Fletcher, D., Flinter, F. A., Fox, J. C., Frary, A. J., French, C. E., Freson, K., Frontini, M., Furie, B., Gale, D. P., Gall, H. J., Gardham, A., Gaspar, H. B., Gattens, M., Ghali, N., Ghataorhe, P. K., Ghio, S., Ghofrani, H. A., Ghurye, R., Gibbs, J. S. R., Gilbert, R. D., Gilmour, K. C., Girerd, B., Girling, J. C., Gissen, P., Gleadall, N. S., Goddard, S., Gordins, P., Gorman, K. M., Gosal, D., Graf, S., Grassi, L., Greene, D., Greenhalgh, A. J., Greenhalgh, L., Greinacher, A., Gresele, P., Griffiths, P. G., Griffiths, S., Grigoriadou, S., Grozeva, D., Hackett, S. J., Hadden, R. D. M., Hadinnapola, C., Hague, R., Hague, W. M., Haimel, M., Hall, M., Halmagyi, C., Hammerton, T., Hanson, H. L., Harkness, K., Harper, A. R., Harper, L., Harris, C., Harrison, C., Hart, D., Hassan, A., Hayman, G., Heemskerk, J. W. M., Hegde, S., Henderson, A., Henderson, R. H., Hensiek, A., Henskens, Y. M. C., Herwadkar, A., Hodgson, J., Hoffman, J., Holden, S., Holder, M., Horvath, R., Houlden, H., Houweling, A. C., Howard, L. S., Hu, F., Hudson, G., Hughes, S., Hughes, S., Huis in ‘t Veld, A. E., Huissoon, A. P., Humbert, M., Hurles, M. E., Hurst, J. A., Irvine, V., Izatt, L., James, R., Jeevaratnam, P., Johnson, M., Johnson, S. A., Jolles, S., Jolley, J. D., Jones, B., Jones, J., Josifova, D., Jurkute, N., Karim, Y. M., Karoshi, M. A., Kasanicki, M. A., Kazkaz, H., Kazmi, R., Keeling, D., Kelleher, P., Kelly, A. M., Kempster, C., Kennedy, F., Kiani, S., Kiely, D. G., Kingston, N., Kinsey, S., Klein, N., Klima, R., Knox, E., Kostadima, M. A., Kovacs, G., Koziell, A. B., Kreuzhuber, R., Krishnakumar, D., Kuijpers, T. W., Kumar, A., Kumararatne, D. S., Kurian, M. A., Laffan, J., Laffan, M. A., Lalloo, F., Lambert, M. P., Lango Allen, H., Lawman, S. H. A., Lawrie, A., Layton, D. M., Lear, S. E., Lees, M. M., Lentaigne, C., Levine, A. P., Lewington, A. J. P., Li, W., Liesner, R., Linger, R. J., Liu, B., Longhurst, H., Lorenzo, L. E., Louka, E., Hadeler, S. L., Lyons, P. A., Macdougall, M., Machado, R. D., MacKenzie Ross, R. V., Mackillop, L. H., MacLaren, R., Madan, B., Magee, L., Mahdi-Rogers, M., Maher, E. R., Maimaris, J., Makris, M., Mangles, S., Manson, A., Manzur, A., Mapeta, R., Marchbank, K. J., Mark, P. B., Marks, S., Markus, H. S., Marschall, H. U., Marshall, A., Martin, J. M., Masati, L., Mathias, M., Matser, V., Matthews, E. L., Maw, A., Maxwell, H., McAlinden, P., McCarthy, M. I., McDermott, E. M., McGowan, S. J., McJannet, C., McKinney, H., Meacham, S., Mead, A. J., Castello, I. M., Meehan, S., Megy, K., Mehta, S., Mercer, C. L., Michaelides, M., Michell, A. C., Milford, D., Millar, C. M., Millar, H., Mistry, A., Moenen, F., Moledina, S., Montani, D., Moore, A. T., Moore, J., Morrell, N. W., Morrisson, V., Mozere, M., Muir, K. W., Mumford, A. D., Murng, S. H. K., Nasir, I., Nejentsev, S., Newnham, M., Ng, J., Ngoh, A., Noorani, S., Noori, M., Nurden, P., O’Sullivan, J. M., Obaji, S., Okoli, S., Oksenhendler, E., Olschewski, A., Olschewski, H., Ong, A. C. M., Ong, K. R., Oram, H., Ormondroyd, E., Othman, S., Ouwehand, W. H., Pantazis, A., Papadia, S., Papandreou, A., Park, S. M., Parker, A. P. J., Parry, D., Parsons, G., Pasi, K. J., Paterson, J., Payne, J. H., Peacock, A. J., Peerlinck, K., Penkett, C. J., Pepke-Zaba, J., Perry, D., Petersen, R., Piechowski-Jozwiak, B., Pinto, F., Polwarth, G. J., Ponsford, M. J., Prasad, S., Prokopenko, I., Psaila, B., Pyle, A., Qasim, W., Quinn, E., Quinti, I., Raina, S., Ranganathan, L., Rankin, J., Rankin, S., Rao, A., Raymond, F. L., Rayner-Matthews, P. J., Rehnstrom, K., Reid, E., Reilly, M. M., Renton, T., Revel-Vilk, S., Rhodes, C. J., Rice, A. S. C., Richards, E. E., Richards, M., Richardson, S., Richter, A., Robert, L., Roberts, I., Rondina, M. T., Rosser, E., Rothwell, P., Roughley, C., Roy, N. B., Rue-Albrecht, K., Sadeghi-Alavijeh, O., Saleem, M. A., Salmon, R. M., Samani, N. J., Samarghitean, C., Sambrook, J. G., Sanchis-Juan, A., Sandford, R., Santra, S., Sargur, R. B., Satchell, S. C., Savic, S., Scelsi, L., Schotte, G., Schulman, S., Schulze, H., Scott, R., Scully, M., Searle, C., Seeger, W., Seneviratne, S. L., Sewell, W. A. C., Seyres, D., Shackley, F., Shamardina, O., Shapiro, S. E., Sharma, P., Shehata, H. A., Shipley, D., Shtoyerman, R., Sibson, K., Side, L., Simeoni, I., Simpson, M., Sims, M. C., Sinha, M. D., Sivapalaratnam, S., Skytte, A. B., Smith, K. G. C., Snape, K., Sneddon, L., Sohal, A., Soubrier, F., Southgate, L., Southwood, M., Splitt, M., Staines, S., Staples, E., Stark, H., Stauss, H., Steele, C. L., Stein, D., Stein, P. E., Stephens, J., Stirrups, K. E., Stock, S., Stubbs, M. J., Suntharalingam, J., Swietlik, E. M., Symington, E., Tait, R. C., Talks, K., Tan, R. Y. Y., Taylor, G. B., Thachil, J., Thaventhiran, J. E. D., Themistocleous, A. C., Thomas, D. C., Thomas, E., Thomas, M. J., Thomas, P., Thompson, D. A., Thomson, K., Thrasher, A. J., Thys, C., Tilly, T., Tischkowitz, M., Titterton, C., Todd, J. A., Toh, C. H., Tool, A. T. J., Toshner, M. R., Traylor, M., Treacy, C. M., Treadaway, P., Trembath, R. C., Trippier, S., Tuna, S., Turek, W., Turro, E., Upton, P. D., Urniaz, R., Vale, T., Van Geet, C., van Zuydam, N., Vandersteen, A. M., Vazquez-Lopez, M., Veltman, M. W. M., Vogt, J., von Ziegenweidt, J., Noordegraaf, A. V., Vora, A., Vries, M. J. A., Wakeling, E. L., Walker, N., Walker, S. M., Walsh, R., Wanjiku, I., Ware, J. S., Warner, T. Q., Wassmer, E., Watkins, H., Watson, H. G., Watt, C., Waugh, D., Webb, N., Webster, A. R., Wei, W., Welch, A., Welch, S. B., Werring, D., Wessels, J., Westbury, S. K., Westwood, J. P. W., Wharton, J., Whitehorn, D., Whitworth, J., Wilkins, M. R., Willcocks, L., Williams, D. J., Williamson, C., Wong, E. K. S., Wood, N., Wood, Y., Woods, C. G., Woodward, E. R., Workman, S., Wort, S. J., Worth, A., Yates, K., Yeatman, N., Yong, P. F. K., Young, T., Yu, P., Yu-Wai-Man, P., Zlamalova, E., Lyons, P. A., Hurles, M. E., Savic, S., Burns, S. O., Kuijpers, T. W., Turro, E., Ouwehand, W. H., Thrasher, A. J., Smith, K. G. C. & Primary Immunodeficiency Consortium for the NIHR Bioresource, 1 Jan 2020, (Accepted/In press) In : Nature. 583, 7814, 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2019

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Gorman, K. M., Meyer, E., Grozeva, D., Spinelli, E., McTague, A., Sanchis-Juan, A., Carss, K. J., Bryant, E., Reich, A., Schneider, A. L., Pressler, R. M., Simpson, M. A., Debelle, G. D., Wassmer, E., Morton, J., Sieciechowicz, D., Jan-Kamsteeg, E., Paciorkowski, A. R., King, M. D., Cross, J. H. & 14 others, Poduri, A., Mefford, H. C., Scheffer, I. E., Haack, T. B., McCullagh, G., Deciphering Developmental Disorders Study, NIHR BioResource, UK10K Consortium, Millichap, J. J., Carvill, G. L., Clayton-Smith, J., Maher, E. R., Raymond, F. L. & Kurian, M. A., 2 May 2019, In : American journal of human genetics. 104, 5, p. 948-956 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians

    Luo, Y., Suliman, S., Asgari, S., Amariuta, T., Baglaenko, Y., Martínez-Bonet, M., Ishigaki, K., Gutierrez-Arcelus, M., Calderon, R., Lecca, L., León, S. R., Jimenez, J., Yataco, R., Contreras, C., Galea, J. T., Becerra, M., Nejentsev, S., Nigrovic, P. A., Moody, D. B., Murray, M. B. & 1 others, Raychaudhuri, S., 1 Dec 2019, In : Nature Communications. 10, 1, 3765.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

    Göös, H., Fogarty, C. L., Sahu, B., Plagnol, V., Rajamäki, K., Nurmi, K., Liu, X., Einarsdottir, E., Jouppila, A., Pettersson, T., Vihinen, H., Krjutskov, K., Saavalainen, P. I., Järvinen, A., Muurinen, M., Greco, D., Scala, G., Curtis, J., Nordström, D., Flaumenhaft, R. & 12 others, Vaarala, O., Kovanen, P. E., Keskitalo, S., Ranki, A., Kere, J., Lehto, M., Notarangelo, L. D., Nejentsev, S., Eklund, K. K., Varjosalo, M., Taipale, J. & Seppänen, M. R. J., 1 Nov 2019, In : Journal of Allergy and Clinical Immunology. 144, 5, p. 1364-1376 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

    Dorjbal, B., Stinson, J. R., Ma, C. A., Weinreich, M. A., Miraghazadeh, B., Hartberger, J. M., Frey-Jakobs, S., Weidinger, S., Moebus, L., Franke, A., Schäffer, A. A., Bulashevska, A., Fuchs, S., Ehl, S., Limaye, S., Arkwright, P. D., Briggs, T. A., Langley, C., Bethune, C., Whyte, A. F. & 35 others, Alachkar, H., Nejentsev, S., DiMaggio, T., Nelson, C. G., Stone, K. D., Nason, M., Brittain, E. H., Oler, A. J., Veltri, D. P., Leahy, T. R., Conlon, N., Poli, M. C., Borzutzky, A., Cohen, J. I., Davis, J., Lambert, M. P., Romberg, N., Sullivan, K. E., Paris, K., Freeman, A. F., Lucas, L., Chandrakasan, S., Savic, S., Hambleton, S., Patel, S. Y., Jordan, M. B., Theos, A., Lebensburger, J., Atkinson, T. P., Torgerson, T. R., Chinn, I. K., Milner, J. D., Grimbacher, B., Cook, M. C. & Snow, A. L., Apr 2019, In : Journal of Allergy and Clinical Immunology. 143, 4, p. 1482-1495

    Research output: Contribution to journalArticleAcademicpeer-review

  • Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation

    Neves, J. F., Martins, C., Cordeiro, A. I., Neves, C., Plagnol, V., Curtis, J., Fabre, M., Bibi, S., Borrego, L. M., Moshous, D., Nejentsev, S. & Gilmour, K., 1 May 2019, In : Journal of Pediatric Hematology / Oncology. 41, 4, p. 328-333

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2018

    Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy

    Michalovich, D. & Nejentsev, S., 2018, In : Frontiers in Immunology. 9, p. 369

    Research output: Contribution to journalReview articleAcademicpeer-review

    Open Access
  • Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

    Cuchet-Lourenço, D., Eletto, D., Wu, C., Plagnol, V., Papapietro, O., Curtis, J., Ceron-Gutierrez, L., Bacon, C. M., Hackett, S., Alsaleem, B., Maes, M., Gaspar, M., Alisaac, A., Goss, E., AlIdrissi, E., Siegmund, D., Wajant, H., Kumararatne, D., AlZahrani, M. S., Arkwright, P. D. & 3 others, Abinun, M., Doffinger, R. & Nejentsev, S., 24 Aug 2018, In : Science. 361, 6404, p. 810-813 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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

    NIHR BioResource Rare Diseases Consortium, 5 Jul 2018, In : American journal of human genetics. 103, 1, p. 3-18 16 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

    NIHR BioResource & Care4Rare Canada Consortium, 5 Jul 2018, In : American journal of human genetics. 103, 1, p. 144-153 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Erratum to: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (Scientific Reports, (2018), 8, 1, (1300), 10.1038/s41598-017-14403-y)

    NIHR BioResource - Rare Diseases, 2018, In : Scientific Reports. 8, 1, 13376.

    Research output: Contribution to journalErratumAcademicpeer-review

    Open Access
  • Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data

    23 and Me Research Team, Oct 2018, In : American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177, 7, p. 641-657 17 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

    NIHR BioResource–Rare Diseases Consortium, 1 Oct 2018, In : Journal of Allergy and Clinical Immunology. 142, 4, p. 1285-1296 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

    Neves, J. F., Doffinger, R., Barcena-Morales, G., Martins, C., Papapietro, O., Plagnol, V., Curtis, J., Martins, M., Kumararatne, D., Cordeiro, A. I., Neves, C., Borrego, L. M., Katan, M. & Nejentsev, S., 2018, In : Frontiers in Immunology. 9, p. 2863

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • PI3Kδ hyper-activation promotes development of B cells that exacerbate Streptococcus pneumoniae infection in an antibody-independent manner

    Stark, A-K., Chandra, A., Chakraborty, K., Alam, R., Carbonaro, V., Clark, J., Sriskantharajah, S., Bradley, G., Richter, A. G., Banham-Hall, E., Clatworthy, M. R., Nejentsev, S., Hamblin, J. N., Hessel, E. M., Condliffe, A. M. & Okkenhaug, K., 9 Aug 2018, In : Nature Communications. 9, 1, p. 3174

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

    Farmery, J. H. R., Smith, M. L., Huissoon, A., Furnell, A., Mead, A., Levine, A. P., Manzur, A., Thrasher, A., Greenhalgh, A., Parker, A., Sanchis-Juan, A., Richter, A., Gardham, A., Lawrie, A., Sohal, A., Creaser-Myers, A., Frary, A., Greinacher, A., Themistocleous, A., Peacock, A. J. & 329 others, Marshall, A., Mumford, A., Rice, A., Webster, A., Brady, A., Koziell, A., Manson, A., Chandra, A., Hensiek, A., Veld, A. H. IT., Maw, A., Kelly, A. M., Moore, A., Vonk Noordegraaf, A., Attwood, A., Herwadkar, A., Ghofrani, A., Houweling, A. C., Girerd, B., Furie, B., Treacy, C. M., Millar, C. M., Sewell, C., Roughley, C., Titterton, C., Williamson, C., Hadinnapola, C., Deshpande, C., Toh, C-H., Bacchelli, C., Patch, C., Geet, C. V., Babbs, C., Bryson, C., Penkett, C. J., Rhodes, C. J., Watt, C., Bethune, C., Booth, C., Lentaigne, C., McJannet, C., Church, C., French, C., Samarghitean, C., Halmagyi, C., Gale, D., Greene, D., Hart, D., Allsup, D., Bennett, D., Edgar, D., Kiely, D. G., Gosal, D., Perry, D. J., Keeling, D., Montani, D., Shipley, D., Whitehorn, D., Fletcher, D., Krishnakumar, D., Grozeva, D., Kumararatne, D., Thompson, D., Josifova, D., Maher, E., Wong, E. K. S., Murphy, E., Dewhurst, E., Louka, E., Rosser, E., Chalmers, E., Colby, E., Drewe, E., McDermott, E., Thomas, E., Staples, E., Clement, E., Matthews, E., Wakeling, E., Oksenhendler, E., Turro, E., Reid, E., Wassmer, E., Raymond, F. L., Hu, F., Kennedy, F., Soubrier, F., Flinter, F., Kovacs, G., Polwarth, G., Ambegaonkar, G., Arno, G., Hudson, G., Woods, G., Coghlan, G., Hayman, G., Arumugakani, G., Schotte, G., Cook, H. T., Alachkar, H., Lango Allen, H., Lango-Allen, H., Stark, H., Stauss, H., Schulze, H., Boggard, H. J., Baxendale, H., Dolling, H., Firth, H., Gall, H., Watson, H., Longhurst, H., Markus, H. S., Watkins, H., Simeoni, I., Emmerson, I., Roberts, I., Quinti, I., Wanjiku, I., Gibbs, J. S. R., Thaventhiran, J., Whitworth, J., Hurst, J., Collins, J., Suntharalingam, J., Payne, J., Thachil, J., Martin, J. M., Carmichael, J., Maimaris, J., Paterson, J., Pepke-Zaba, J., Heemskerk, J. W. M., Gebhart, J., Davis, J., Pasi, J., Bradley, J. R., Wharton, J., Stephens, J., Rankin, J., Anderson, J., Vogt, J., von Ziegenweldt, J., Rehnstrom, K., Megy, K., Talks, K., Peerlinck, K., Yates, K., Freson, K., Stirrups, K., Gomez, K., Smith, K. G. C., Rue-Albrecht, K., Gilmour, K., Masati, L., Scelsi, L., Southgate, L., Ranganathan, L., Ginsberg, L., Devlin, L., Willcocks, L., Ormondroyd, L., Lorenzo, L., Harper, L., Allen, L., Daugherty, L., Chitre, M., Kurian, M., Humbert, M., Tischkowitz, M., Bitner-Glindzicz, M., Erwood, M., Scully, M., Veltman, M., Caulfield, M., Layton, M., McCarthy, M., Ponsford, M., Toshner, M., Bleda, M., Wilkins, M., Mathias, M., Reilly, M., Afzal, M., Brown, M., Rondina, M., Stubbs, M., Haimel, M., Lees, M., Laffan, M. A., Browning, M., Gattens, M., Richards, M., Michaelides, M., Lambert, M. P., Makris, M., de Vries, M., Mahdi-Rogers, M., Saleem, M., Thomas, M., Holder, M., Eyries, M. L., Clements-Brod, N., Canham, N., Dormand, N., Zuydam, N. V., Kingston, N., Ghali, N., Cooper, N., Morrell, N. W., Yeatman, N., Roy, N., Shamardina, O., Alavijeh, O. S., Gresele, P., Nurden, P., Chinnery, P., Deegan, P., Yong, P., Man, P. Y. W., Corris, P. A., Calleja, P., Gissen, P., Bolton-Maggs, P., Rayner-Matthews, P., Ghataorhe, P. K., Gordins, P., Stein, P., Collins, P., Dixon, P., Kelleher, P., Ancliff, P., Yu, P., Tait, R. C., Linger, R., Doffinger, R., Machado, R., Kazmi, R., Sargur, R., Favier, R., Tan, R., Liesner, R., Antrobus, R., Sandford, R., Scott, R., Trembath, R., Horvath, R., Hadden, R., Mackenzieross, R. V., Henderson, R., MacLaren, R., James, R., Ghurye, R., Dacosta, R., Hague, R., Mapeta, R., Armstrong, R., Noorani, S., Murng, S., Santra, S., Tuna, S., Johnson, S., Chong, S., Lear, S., Walker, S., Goddard, S., Mangles, S., Westbury, S., Mehta, S., Hackett, S., Nejentsev, S., Moledina, S., Bibi, S., Meehan, S., Othman, S., Revel-Vilk, S., Holden, S., McGowan, S., Staines, S., Savic, S., Burns, S., Grigoriadou, S., Papadia, S., Ashford, S., Schulman, S., Ali, S., Park, S-M., Davies, S., Stock, S., Ali, S., Deevi, S. V. V., Gräf, S., Ghio, S., Wort, S. J., Jolles, S., Austin, S., Welch, S., Meacham, S., Rankin, S., Walker, S., Seneviratne, S., Holder, S., Sivapalaratnam, S., Richardson, S., Kuijpers, T., Kuijpers, T. W., Bariana, T. K., Bakchoul, T., Everington, T., Renton, T., Young, T., Aitman, T., Warner, T. Q., Vale, T., Hammerton, T., Pollock, V., Matser, V., Cookson, V., Clowes, V., Qasim, W., Wei, W., Erber, W. N., Ouwehand, W. H., Astle, W., Egner, W., Turek, W., Henskens, Y., Tan, Y. & Lynch, A. G., 2018, In : Scientific Reports. 8, 1, 1300.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • 2017

    Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

    UK Inherited Retinal Disease Consortium, NIHR BioResource Rare Diseases Consortium, NIHR BioResource Rare Diseases Consortium & NIHR Bioresource – Rare Diseases Consortium, 2 Feb 2017, In : American journal of human genetics. 100, 2, p. 334-342 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

    Coulter, T. I., Chandra, A., Bacon, C. M., Babar, J., Curtis, J., Screaton, N., Goodlad, J. R., Farmer, G., Steele, C. L., Leahy, T. R., Doffinger, R., Baxendale, H., Bernatoniene, J., Edgar, J. D. M., Longhurst, H. J., Ehl, S., Speckmann, C., Grimbacher, B., Sediva, A., Milota, T. & 38 others, Faust, S. N., Williams, A. P., Hayman, G., Kucuk, Z. Y., Hague, R., French, P., Brooker, R., Forsyth, P., Herriot, R., Cancrini, C., Palma, P., Ariganello, P., Conlon, N., Feighery, C., Gavin, P. J., Jones, A., Imai, K., Ibrahim, M. A. A., Markelj, G., Abinun, M., Rieux-Laucat, F., Latour, S., Pellier, I., Fischer, A., Touzot, F., Casanova, J-L., Durandy, A., Burns, S. O., Savic, S., Kumararatne, D. S., Moshous, D., Kracker, S., Vanhaesebroeck, B., Okkenhaug, K., Picard, C., Nejentsev, S., Condliffe, A. M. & Cant, A. J., Feb 2017, In : Journal of Allergy and Clinical Immunology. 139, 2, p. 597-606.e4

    Research output: Contribution to journalArticleAcademicpeer-review

  • Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    NIHR BioResource Rare Diseases Consortium, 5 Jan 2017, In : American journal of human genetics. 100, 1, p. 75-90 16 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Reevaluation of SNP heritability in complex human traits

    UCLEB Consortium, Jul 2017, In : Nature Genetics. 49, 7, p. 986-992 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2016

    Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

    Eletto, D., Burns, S. O., Angulo, I., Plagnol, V., Gilmour, K. C., Henriquez, F., Curtis, J., Gaspar, M., Nowak, K., Daza-Cajigal, V., Kumararatne, D., Doffinger, R., Thrasher, A. J. & Nejentsev, S., 23 Dec 2016, In : Nature Communications. 7, p. 13992

    Research output: Contribution to journalArticleAcademicpeer-review

  • Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

    Elkaim, E., Neven, B., Bruneau, J., Mitsui-Sekinaka, K., Stanislas, A., Heurtier, L., Lucas, C. L., Matthews, H., Deau, M-C., Sharapova, S., Curtis, J., Reichenbach, J., Glastre, C., Parry, D. A., Arumugakani, G., McDermott, E., Kilic, S. S., Yamashita, M., Moshous, D., Lamrini, H. & 23 others, Otremba, B., Gennery, A., Coulter, T., Quinti, I., Stephan, J-L., Lougaris, V., Brodszki, N., Barlogis, V., Asano, T., Galicier, L., Boutboul, D., Nonoyama, S., Cant, A., Imai, K., Picard, C., Nejentsev, S., Molina, T. J., Lenardo, M., Savic, S., Cavazzana, M., Fischer, A., Durandy, A. & Kracker, S., Jul 2016, In : Journal of Allergy and Clinical Immunology. 138, 1, p. 210-218.e9

    Research output: Contribution to journalArticleAcademicpeer-review

  • Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

    Chandra, A., Zhang, F., Gilmour, K. C., Webster, D., Plagnol, V., Kumararatne, D. S., Burns, S. O., Nejentsev, S. & Thrasher, A. J., Mar 2016, In : Journal of Allergy and Clinical Immunology. 137, 3, p. 940-2.e4

    Research output: Contribution to journalArticleAcademicpeer-review

  • HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

    Sveinbjornsson, G., Gudbjartsson, D. F., Halldorsson, B. V., Kristinsson, K. G., Gottfredsson, M., Barrett, J. C., Gudmundsson, L. J., Blondal, K., Gylfason, A., Gudjonsson, S. A., Helgadottir, H. T., Jonasdottir, A., Jonasdottir, A., Karason, A., Kardum, L. B., Knežević, J., Kristjansson, H., Kristjansson, M., Love, A., Luo, Y. & 10 others, Magnusson, O. T., Sulem, P., Kong, A., Masson, G., Thorsteinsdottir, U., Dembic, Z., Nejentsev, S., Blondal, T., Jonsdottir, I. & Stefansson, K., Mar 2016, In : Nature Genetics. 48, 3, p. 318-22 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • PI3Kδ and primary immunodeficiencies

    Lucas, C. L., Chandra, A., Nejentsev, S., Condliffe, A. M. & Okkenhaug, K., Nov 2016, In : Nature Reviews Immunology. 16, 11, p. 702-714 13 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  • 2015

    Beijing clades of Mycobacterium tuberculosis are associated with differential survival in HIV-negative Russian patients

    Balabanova, Y., Nikolayevskyy, V., Ignatyeva, O., Kontsevaya, I., Mironova, S., Kovalyov, A., Kritsky, A., Rodionova, Y., Fedorin, I., Casali, N., Hooper, R., Horstmann, R. D., Nejentsev, S., Hoffner, S., Nuernberg, P. & Drobniewski, F., Dec 2015, In : Infection, Genetics and Evolution. 36, p. 517-523 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: A Mendelian randomisation analysis

    Freitag, D., Butterworth, A. S., Willeit, P., Howson, J. M. M., Burgess, S., Kaptoge, S., Young, R., Ho, W. K., Wood, A. M., Sweeting, M., Spackman, S., Staley, J. R., Ramond, A., Harshfield, E., Nielsen, S. F., Grande, P., Lange, L. A., Bown, M. J., Jones, G. T., Scott, R. A. & 133 others, Bevan, S., Porcu, E., Thorleifsson, G., Zeng, L., Kessler, T., Nikpay, M., Do, R., Zhang, W., Hopewell, J. C., Kleber, M., Delgado, G. E., Nelson, C. P., Goel, A., Bis, J. C., Dehghan, A., Ligthart, S., Smith, A. V., Qu, L., van 't Hof, F. N. G., de Bakker, P. I. W., Baas, A. F., van Rij, A., Tromp, G., Kuivaniemi, H., Ritchie, M. D., Verma, S. S., Crawford, D. C., Malinowski, J., de Andrade, M., Kullo, I. J., Peissig, P. L., McCarty, C. A., Böttinger, E. P., Gottesman, O., Crosslin, D. R., Carrell, D. S., Rasmussen-Torvik, L. J., Pacheco, J. A., Huang, J., Timpson, N. J., Kettunen, J., Ala-Korpela, M., Mitchell, G. F., Parsa, A., Wilkinson, I. B., Gorski, M., Li, Y., Franceschini, N., Keller, M. F., Ganesh, S. K., Langefeld, C. D., Bruijn, L., Brown, M. A., Evans, D. M., Baltic, S., Ferreira, M. A., Baurecht, H., Weidinger, S., Franke, A., Lubitz, S. A., Müller-Nurasyid, M., Felix, J. F., Smith, N. L., Sudman, M., Thompson, S. D., Zeggini, E., Panoutsopoulou, K., Nalls, M. A., Singleton, A., Polychronakos, C., Bradfield, J. P., Hakonarson, H., Easton, D. F., Thompson, D., Tomlinson, I. P., Dunlop, M., Hemminki, K., Morgan, G., Eisen, T., Goldschmidt, H., Allan, J. M., Henrion, M., Whiffin, N., Wang, Y., Chubb, D., Iles, M. M., Bishop, D. T., Law, M. H., Hayward, N. K., Luo, Y., Nejentsev, S., Barbalic, M., Crossman, D., Sanna, S., Soranzo, N., Markus, H. S., Wareham, N. J., Rader, D. J., Reilly, M., Assimes, T., Harris, T. B., Hofman, A., Franco, O. H., Gudnason, V., Tracy, R., Psaty, B. M., Farrall, M., Watkins, H., Hall, A. S., Samani, N. J., März, W., Clarke, R., Collins, R., Kooner, J. S., Chambers, J. C., Kathiresan, S., McPherson, R., Erdmann, J., Kastrati, A., Schunkert, H., Stefánsson, K. R., Thorsteinsdottir, U., Walston, J. D., Tybjærg-Hansen, A., Alam, D. S., Al Shafi Majumder, A., Angelantonio, E. D., Chowdhury, R., Nordestgaard, B. R. G., Saleheen, D., Thompson, S. G., Danesh, J. & Houlston, R. S., 2015, In : The Lancet Diabetes and Endocrinology. 3, 4, p. 243-253

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1

    Record, J., Malinova, D., Zenner, H. L., Plagnol, V., Nowak, K., Syed, F., Bouma, G., Curtis, J., Gilmour, K., Cale, C., Hackett, S., Charras, G., Moulding, D., Nejentsev, S., Thrasher, A. J. & Burns, S. O., 24 Sep 2015, In : Blood. 126, 13, p. 1527-35 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

    Curtis, J., Luo, Y., Zenner, H. L., Cuchet-Lourenço, D., Wu, C., Lo, K., Maes, M., Alisaac, A., Stebbings, E., Liu, J. Z., Kopanitsa, L., Ignatyeva, O., Balabanova, Y., Nikolayevskyy, V., Baessmann, I., Thye, T., Meyer, C. G., Nürnberg, P., Horstmann, R. D., Drobniewski, F. & 3 others, Plagnol, V., Barrett, J. C. & Nejentsev, S., May 2015, In : Nature Genetics. 47, 5, p. 523-527 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2014

    Evolution and transmission of drug-resistant tuberculosis in a Russian population

    Casali, N., Nikolayevskyy, V., Balabanova, Y., Harris, S. R., Ignatyeva, O., Kontsevaya, I., Corander, J., Bryant, J., Parkhill, J., Nejentsev, S., Horstmann, R. D., Brown, T. & Drobniewski, F., Mar 2014, In : Nature Genetics. 46, 3, p. 279-86 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

    Burns, S. O., Plagnol, V., Gutierrez, B. M., Al Zahrani, D., Curtis, J., Gaspar, M., Hassan, A., Jones, A. M., Malone, M., Rampling, D., McLatchie, A., Doffinger, R., Gilmour, K. C., Henriquez, F., Thrasher, A. J., Gaspar, H. B. & Nejentsev, S., Jul 2014, In : Journal of Allergy and Clinical Immunology. 134, 1, p. 215-8 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

    Kracker, S., Curtis, J., Ibrahim, M. A. A., Sediva, A., Salisbury, J., Campr, V., Debré, M., Edgar, J. D. M., Imai, K., Picard, C., Casanova, J-L., Fischer, A., Nejentsev, S. & Durandy, A., Jul 2014, In : Journal of Allergy and Clinical Immunology. 134, 1, p. 233-6 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2013

    Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

    Angulo, I., Vadas, O., Garçon, F., Banham-Hall, E., Plagnol, V., Leahy, T. R., Baxendale, H., Coulter, T., Curtis, J., Wu, C., Blake-Palmer, K., Perisic, O., Smyth, D., Maes, M., Fiddler, C., Juss, J., Cilliers, D., Markelj, G., Chandra, A., Farmer, G. & 24 others, Kielkowska, A., Clark, J., Kracker, S., Debré, M., Picard, C., Pellier, I., Jabado, N., Morris, J. A., Barcenas-Morales, G., Fischer, A., Stephens, L., Hawkins, P., Barrett, J. C., Abinun, M., Clatworthy, M., Durandy, A., Doffinger, R., Chilvers, E. R., Cant, A. J., Kumararatne, D., Okkenhaug, K., Williams, R. L., Condliffe, A. & Nejentsev, S., 15 Nov 2013, In : Science. 342, 6160, p. 866-71 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2012

    A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians

    Png, E., Alisjahbana, B., Sahiratmadja, E., Marzuki, S., Nelwan, R., Balabanova, Y., Nikolayevskyy, V., Drobniewski, F., Nejentsev, S., Adnan, I., van de Vosse, E., Hibberd, M. L., van Crevel, R., Ottenhoff, T. H. M. & Seielstad, M., 13 Jan 2012, In : BMC Medical Genetics. 13, p. 5

    Research output: Contribution to journalArticleAcademicpeer-review

  • A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

    Plagnol, V., Curtis, J., Epstein, M., Mok, K. Y., Stebbings, E., Grigoriadou, S., Wood, N. W., Hambleton, S., Burns, S. O., Thrasher, A. J., Kumararatne, D., Doffinger, R. & Nejentsev, S., 1 Nov 2012, In : Bioinformatics. 28, 21, p. 2747-54 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Common variants at 11p13 are associated with susceptibility to tuberculosis

    Thye, T., Owusu-Dabo, E., Vannberg, F. O., van Crevel, R., Curtis, J., Sahiratmadja, E., Balabanova, Y., Ehmen, C., Muntau, B., Ruge, G., Sievertsen, J., Gyapong, J., Nikolayevskyy, V., Hill, P. C., Sirugo, G., Drobniewski, F., van de Vosse, E., Newport, M., Alisjahbana, B., Nejentsev, S. & 4 others, Ottenhoff, T. H. M., Hill, A. V. S., Horstmann, R. D. & Meyer, C. G., 5 Feb 2012, In : Nature Genetics. 44, 3, p. 257-9 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

    Burns, S. O., Zenner, H. L., Plagnol, V., Curtis, J., Mok, K., Eisenhut, M., Kumararatne, D., Doffinger, R., Thrasher, A. J. & Nejentsev, S., Dec 2012, In : Journal of Allergy and Clinical Immunology. 130, 6, p. 1428-32 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Microevolution of extensively drug-resistant tuberculosis in Russia

    Casali, N., Nikolayevskyy, V., Balabanova, Y., Ignatyeva, O., Kontsevaya, I., Harris, S. R., Bentley, S. D., Parkhill, J., Nejentsev, S., Hoffner, S. E., Horstmann, R. D., Brown, T. & Drobniewski, F., Apr 2012, In : Genome Research. 22, 4, p. 735-45 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2011

    Association analysis of the LTA4H gene polymorphisms and pulmonary tuberculosis in 9115 subjects

    Curtis, J., Kopanitsa, L., Stebbings, E., Speirs, A., Ignatyeva, O., Balabanova, Y., Nikolayevskyy, V., Hoffner, S., Horstmann, R., Drobniewski, F. & Nejentsev, S., Jan 2011, In : Tuberculosis. 91, 1, p. 22-5 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2009

    MCP-1 promoter variant -362C associated with protection from pulmonary tuberculosis in Ghana, West Africa

    Thye, T., Nejentsev, S., Intemann, C. D., Browne, E. N., Chinbuah, M. A., Gyapong, J., Osei, I., Owusu-Dabo, E., Zeitels, L. R., Herb, F., Horstmann, R. D. & Meyer, C. G., 15 Jan 2009, In : Human Molecular Genetics. 18, 2, p. 381-8 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

    Nejentsev, S., Walker, N., Riches, D., Egholm, M. & Todd, J. A., 17 Apr 2009, In : Science. 324, 5925, p. 387-9 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2008

    Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations

    Nejentsev, S., Thye, T., Szeszko, J. S., Stevens, H., Balabanova, Y., Chinbuah, A. M., Hibberd, M., van de Vosse, E., Alisjahbana, B., van Crevel, R., Ottenhoff, T. H. M., Png, E., Drobniewski, F., Todd, J. A., Seielstad, M. & Horstmann, R. D., Mar 2008, In : Nature Genetics. 40, 3, p. 261-2; author reply 262-3

    Research output: Contribution to journalArticleAcademicpeer-review

  • Down-regulation of NKG2D and NKp80 ligands by Kaposi's sarcoma-associated herpesvirus K5 protects against NK cell cytotoxicity

    Thomas, M., Boname, J. M., Field, S., Nejentsev, S., Salio, M., Cerundolo, V., Wills, M. & Lehner, P. J., 5 Feb 2008, In : Proceedings of the National Academy of Sciences of the United States of America. 105, 5, p. 1656-61 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis

    Davila, S., Hibberd, M. L., Hari Dass, R., Wong, H. E. E., Sahiratmadja, E., Bonnard, C., Alisjahbana, B., Szeszko, J. S., Balabanova, Y., Drobniewski, F., van Crevel, R., van de Vosse, E., Nejentsev, S., Ottenhoff, T. H. M. & Seielstad, M., Oct 2008, In : PLoS Genetics. 4, 10, p. e1000218

    Research output: Contribution to journalArticleAcademicpeer-review

  • Sequencing-based genotyping and association analysis of the MICA and MICB genes in type 1 diabetes

    Field, S. F., Nejentsev, S., Walker, N. M., Howson, J. M. M., Godfrey, L. M., Jolley, J. D., Hardy, M. P. A. & Todd, J. A., Jun 2008, In : Diabetes. 57, 6, p. 1753-6 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2007

    Analysis of extended human leukocyte antigen haplotype association with Addison's disease in three populations

    Gombos, Z., Hermann, R., Kiviniemi, M., Nejentsev, S., Reimand, K., Fadeyev, V., Peterson, P., Uibo, R. & Ilonen, J., Dec 2007, In : European Journal of Endocrinology. 157, 6, p. 757-61 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes

    Bailey, R., Cooper, J. D., Zeitels, L., Smyth, D. J., Yang, J. H. M., Walker, N. M., Hyppönen, E., Dunger, D. B., Ramos-Lopez, E., Badenhoop, K., Nejentsev, S. & Todd, J. A., Oct 2007, In : Diabetes. 56, 10, p. 2616-21 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Comprehensive association analysis of the vitamin D pathway genes, VDR, CYP27B1, and CYP24A1, in prostate cancer

    Holick, C. N., Stanford, J. L., Kwon, E. M., Ostrander, E. A., Nejentsev, S. & Peters, U., Oct 2007, In : Cancer Epidemiology Biomarkers and Prevention. 16, 10, p. 1990-9 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

    Wellcome Trust Case-Control Consortium, 6 Dec 2007, In : Nature. 450, 7171, p. 887-92 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review