Large-scale discovery of novel genetic causes of developmental disorders von van Kogelenberg, M, Goudie, D, Gray, E, Harrison, L, Hawkins, R, Henderson, A, Holder, S, Irving, M, Bayzetinova, T, Jones, D, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kumar, D, Lachlan, K, Lees, M, Lim, D, Coomber, E L, Lowther, G, Lynch, S A, Maher, E, Mansour, S, Maye, U, McCann, E, McMullan, D J, McNerlan, S, Metcalfe, K, Mohammed, S, Jones, P, Moore, D, Morton, J, Mugalaasi, H, Newbury-Ecob, R, Ogilvie, C, Park, S, Parker, M J, Patel, C, Porteous, D, Mason, L E, Ragge, N, Rankin, J, Raymond, L, Rosser, E, Miller, R, Sarkar, A, Scott, C, Scott, R, Selby, A, Shannon, N, Simpkin, D, Singzon, R, Skitt, Z, Rajan, D, Splitt, M, Stewart, F, Swaminathan, G J, Tatton-Brown, K, Temple, I K, Torokwa, A, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Walker, D, Ahmed, M, Widaa, S, Williams, N, Wragg, C, Yau, M, FitzPatrick, D R, Anjum, U, Balasubramanian, M, Banerjee, R, Baralle, D, Baty, D, Bennett, C, Berg, J, Bevan, A P, Bourdon, L, Brady, A, Burton, J, Chandler, K, Cooper, N, Cross, G, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Donnelly, C, Douglas, A, Eason, J, Edkins, S, Foulds, N, Fryer, A, Gardiner, C, Pereira, S L Gomes, Goodship, J

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Autologous breast reconstruction in patients with achondroplasia: Reconstructive and anaesthetic challenges von Touil, L.L., Saggar, A.K., Taghizadeh, R.

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Estimation of nitrous oxide emission from ecosystems and its mitigation technologies von Saggar, Surinder

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Long‐term cognitive outcomes in tuberous sclerosis complex von Tye, Charlotte, Mcewen, Fiona S, Liang, Holan, Underwood, Lisa, Woodhouse, Emma, Barker, Edward D, Sheerin, Fintan, Yates, John R W, Bolton, Patrick F, Higgins, N, Attard, V, Clarke, A, Elmslie, FV, Saggar, AK, Baines, D, Kerr, BA, Brayne, C, Carcani‐Rathwell, I, Connolly, C, Clifford, M, Lydon, A, Oluwo, F, Rogers, H, Srivastava, C, Steenbruggen, J, Cook, JA, Falconer, C, Davies, DM, Sampson, JR, Fryer, AE, Haslop, M, Granader, Y, Griffiths, PD, Hunt, A, Lam, WWK, Kingswood, JC, Miedzybrodzka, ZH, Crawford, H, Morrison, PJ, O'Callaghan, FJK, Philip, SG, Seri, S, Sheehan‐Dare, R, Shepherd, CH

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REGN-COV2, a Neutralizing Antibody Cocktail, in Outpatients with Covid-19 von Weinreich, David M, Sivapalasingam, Sumathi, Norton, Thomas, Ali, Shazia, Gao, Haitao, Bhore, Rafia, Musser, Bret J, Soo, Yuhwen, Rofail, Diana, Im, Joseph, Perry, Christina, Pan, Cynthia, Hosain, Romana, Mahmood, Adnan, Davis, John D, Turner, Kenneth C, Hooper, Andrea T, Hamilton, Jennifer D, Baum, Alina, Kyratsous, Christos A, Kim, Yunji, Cook, Amanda, Kampman, Wendy, Kohli, Anita, Sachdeva, Yessica, Graber, Ximena, Kowal, Bari, DiCioccio, Thomas, Stahl, Neil, Lipsich, Leah, Braunstein, Ned, Herman, Gary, Yancopoulos, George D

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Sotatercept for the Treatment of Pulmonary Arterial Hypertension von Humbert, Marc, McLaughlin, Vallerie, Gibbs, J. Simon R, Gomberg-Maitland, Mardi, Hoeper, Marius M, Preston, Ioana R, Souza, Rogerio, Waxman, Aaron, Escribano Subias, Pilar, Feldman, Jeremy, Meyer, Gisela, Montani, David, Olsson, Karen M, Manimaran, Solaiappan, Barnes, Jennifer, Linde, Peter G, de Oliveira Pena, Janethe, Badesch, David B

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Tuberose sclerosis complex: analysis of growth rates aids differentiation of renal cell carcinoma from atypical or minimal-fat-containing angiomyolipoma von Patel, U., Simpson, E., Kingswood, J.C., Saggar-Malik, A.K.

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Identification of five novel SPRED1 germline mutations in Legius syndrome von Laycock-van Spyk, S, Jim, HP, Thomas, L, Spurlock, G, Fares, L, Palmer-Smith, S, Kini, U, Saggar, A, Patton, M, Mautner, V, Pilz, DT, Upadhyaya, M

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PO.03 A novel OPA1 mutation is associated with a multiple sclerosis-like illness in two sisters von Jones, W, Saggar, A K, Howe, F, Rich, P, Al-Memar, A

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Right Ventricular Functional Reserve in Early-Stage Idiopathic Pulmonary Fibrosis: An Exercise Two-Dimensional Speckle Tracking Doppler Echocardiography Study von D'Andrea, Antonello, Stanziola, Anna Agnese, Saggar, Rajan, Saggar, Rajeev, Sperlongano, Simona, Conte, Marianna, D'Alto, Michele, Ferrara, Francesco, Gargani, Luna, Lancellotti, Patrizio, Bossone, Eduardo

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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance von Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

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Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis von McCormack, Francis X, Inoue, Yoshikazu, Moss, Joel, Singer, Lianne G, Strange, Charlie, Nakata, Koh, Barker, Alan F, Chapman, Jeffrey T, Brantly, Mark L, Stocks, James M, Brown, Kevin K, Lynch, Joseph P, Goldberg, Hilary J, Young, Lisa R, Kinder, Brent W, Downey, Gregory P, Sullivan, Eugene J, Colby, Thomas V, McKay, Roy T, Cohen, Marsha M, Korbee, Leslie, Taveira-DaSilva, Angelo M, Lee, Hye-Seung, Krischer, Jeffrey P, Trapnell, Bruce C

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Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease von MacDermot, K D, Saggar-Malik, A K, Economides, D L, Jeffery, S

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly von Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M

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Perioperative Nonsteroidal Anti-inflammatory Drugs (NSAID) Administration and Acute Kidney Injury (AKI) in Major Gastrointestinal Surgery: A Prospective, Multicenter, Propensity Ma... von Collaborative, STARSurg

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DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome von Slade, Ingrid, Bacchelli, Chiara, Davies, Helen, Murray, Anne, Abbaszadeh, Fatemeh, Hanks, Sandra, Barfoot, Rita, Burke, Amos, Chisholm, Julia, Hewitt, Martin, Jenkinson, Helen, King, Derek, Morland, Bruce, Pizer, Barry, Prescott, Katrina, Saggar, Anand, Side, Lucy, Traunecker, Heidi, Vaidya, Sucheta, Ward, Paul, Futreal, P Andrew, Vujanic, Gordan, Nicholson, Andrew G, Sebire, Neil, Turnbull, Clare, Priest, John R, Pritchard-Jones, Kathryn, Houlston, Richard, Stiller, Charles, Stratton, Michael R, Douglas, Jenny, Rahman, Nazneen

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Ethnicity, equity, and access to genetic services-the UK perspective von Mehta, P., Saggar, A. K.

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Intellectual development before and after the onset of infantile spasms: A controlled prospective longitudinal study in tuberous sclerosis von Humphrey, Ayla, MacLean, Cathy, Ploubidis, George B., Granader, Yael, Clifford, Michelle, Haslop, Maisy, Neville, Brian G.R., Yates, John R.W., Bolton, Patrick F.

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Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes von Weedon, Michael N, Lindgren, Cecilia M, Timpson, Nicholas J, Freathy, Rachel M, Morris, Andrew P, Walker, Mark, Doney, Alex S.F, Clayton, David G, Craddock, Nick, Deloukas, Panos, Ouwehand, Willem H, Todd, John A, Evans, David, Leung, Hin-Tak, Attwood, Antony P, Boorman, James P, Everson, Ursula, Knight, Alexandra S, Stevens, Helen E, Walters, Graham R, Walker, Neil M, Winzer, Thilo, Ring, Susan M, Strachan, David P, Pembrey, Marcus, Fraser, Christine, Jones, Ian R, Kirov, George, Williamson, Richard, Young, Allan H, Ferrier, I. Nicol, Iles, Mark M, Maqbool, Azhar, Hall, Alistair S, Braund, Peter S, Stevens, Suzanne, Thompson, John R, Bredin, Francesca, Lees, Charles W, Forbes, Alastair, Lewis, Cathryn M, Prescott, Natalie J, Todhunter, Catherine E, Ahmad, Tariq, Cummings, Fraser R, Jewell, Derek P, Webster, John, Connell, John, Dominiczak, Anna, Gungadoo, Johannie, Lee, Kate L, Munroe, Patricia B, Onipinla, Abiodun, Caulfield, Mark, Farrall, Martin, Potter, Catherine, Silman, Alan J, Worthington, Jane, Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Farrar, Claire, Brown, Matthew A, Simmonds, Matthew J, Gough, Stephen C.L, Ban, Maria, Goris, An, Compston, Alastair, Hunt, Sarah E, Inouye, Michael, McGinnis, Ralph, Widden, Claire, Su, Zhan, Teo, Yik Ying, Ouwehand, Nilesh J, Samani, Michael R, Ardern-Jones, A, Brice, G, Castle, B, Donaldson, A, Eeles, R, Goodman, S, Gray, J, Greenhalgh, L, Hodgson, S.V, Izatt, L, Jeffers, L, Locke, I, Longmuir, M, Mackay, J, Magee, A, Miedzybrodzka, Z, Paterson, J, Porteous, M, Rowe, S, Shanley, S, Saggar, A, Side, L, Steel, M, Thomas, M

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Comparison of phenotypes of polycystic kidney disease types 1 and 2 von Hateboer, Nick, v Dijk, Marjan A, Bogdanova, Nadja, Coto, Eliecer, Saggar-Malik, Anand K, Millan, Jose L San, Torra, Roser, Breuning, Martijn, Ravine, David

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