Increased serum opsonic activity and antibody concentration in patients with sickle cell disease after pneumococcal polysaccharide immunization von Chudwin, David S., Wara, Diane W., Matthay, Katherine K., Caulfield, Mary H., Schiffman, Gerald, Mentzer, William C., Ammann, Arthur J.

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Effectiveness of an educational intervention delivered through the health services to improve nutrition in young children: a cluster-randomised controlled trial von Penny, Mary E, Creed-Kanashiro, Hilary M, Robert, Rebecca C, Narro, M Rocio, Caulfield, Laura E, Black, Robert E

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis von Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study von Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Smith, Katherine R, McDonagh, Ellen M, Polychronopoulos, Dimitris, Chan, Georgia, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, Morris, Huw, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Twiss, Philip, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Wilson, Gill, Ellard, Sian, Temple, I Karen, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Chinnery, Patrick F, Rendon, Augusto, Eberle, Michael A, Taft, Ryan J, Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Hamblin, Angela, Holman, James, Hubbard, Tim J.P., Jones, Louise J., Kayikci, Melis, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Williams, Eleanor, Zarowiecki, Magdalena

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The Barts Health NHS Trust COVID-19 cohort: characteristics, outcomes and risk scoring of patients in East London von Crocker-Buque, T., Williams, S., Brentnall, A. R., Gabe, R., Duffy, S., Prowle, J. R., Orkin, C., Kunst, H., Cutino-Moguel, T., Zenner, D., Bloom, B., Melzer, M., de Freitas, S., Darmalingam, M., McCafferty, K., Kapil, V., Pfeffer, P., Martin, J., Gourtsoyannis, Y., Chandran, S., Dhariwal, A., Rachman, R., Milligan, I., Mabayoje, D., Adobah, E., Falconer, J., Nugent, H., Yaqoob, M., Collier, D., Pearse, R., Caulfield, M., Tiberi, S., on behalf of the Barts Health and Queen Mary COVID-19 Trials Group †

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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis von Shoemark, Amelia, Griffin, Helen, Wheway, Gabrielle, Hogg, Claire, Lucas, Jane S, Camps, Carme, Taylor, Jenny, Carroll, Mary, Loebinger, Michael R, Chalmers, James D, Morris-Rosendahl, Deborah, Mitchison, Hannah M, De Soyza, Anthony, Brown, D, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O'Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M

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Novel Staphylococcus aureus Vaccine: Iron Surface Determinant B Induces Rapid Antibody Responses in Rhesus Macaques and Specific Increased Survival in a Murine S. aureus Sepsis Mod... von Kuklin, Nelly A, Clark, Desmond J, Secore, Susan, Cook, James, Cope, Leslie D, McNeely, Tessie, Noble, Liliane, Brown, Martha J, Zorman, Julie K, Wang, Xin Min, Pancari, Gregory, Fan, Hongxia, Isett, Kevin, Burgess, Bruce, Bryan, Janine, Brownlow, Michelle, George, Hugh, Meinz, Maria, Liddell, Mary E, Kelly, Rosemarie, Schultz, Loren, Montgomery, Donna, Onishi, Janet, Losada, Maria, Martin, Melissa, Ebert, Timothy, Tan, Charles Y, Schofield, Timothy L, Nagy, Eszter, Meineke, Andreas, Joyce, Joseph G, Kurtz, Myra B, Caulfield, Michael J, Jansen, Kathrin U, McClements, William, Anderson, Annaliesa S

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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension von Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D, Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G, Lawrie, Allan, Machado, Rajiv, MacKenzie Ross, Robert, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Vonk Noordegraaf, Anton, Wilkins, Martin R, Wort, Stephen J, Wharton, John, Gräf, Stefan, Morrell, Nicholas W

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing von Macken, William L., Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E., Patel, Yogen, Labrum, Robyn, Phadke, Rahul, Reilly, Mary M., DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G., Vandrovcova, Jana, Pitceathly, Robert D. S.

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy von Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry

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Sex Differences in Lipid Profiles and Treatment Utilization Among Young Adults With Acute Myocardial Infarction: Results from the VIRGO Study von Lu, Yuan, ScD, Zhou, Shengfan, MS, Dreyer, Rachel P., PhD, Caulfield, Michael, PhD, Spatz, Erica S., MD, MHS, Geda, Mary, MSN, Lorenze, Nancy P., DNSc, Herbert, Peter, MD, D'Onofrio, Gail, MD, Jackson, Elizabeth A., MD, Lichtman, Judith H., PhD, MPH, Bueno, Héctor, MD, PhD, Spertus, John A., MD, Krumholz, Harlan M., MD, SM

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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia von Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, Banka, Siddharth, Clayton-Smith, Jill, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Jamra, Rami Abu, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Hanna, Michael, Koenig, Michel, Vandrovcova, Jana, Houlden, Henry, Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Daugherty, L.C., Devereau, A., Foulger, R.E., Fowler, T., Furió-Tarí, P., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Stevens, H.E., Stuckey, A., Sultana, R., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.

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Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome von Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Cerkauskaite, Agne, Savige, Judy

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Comparative Immunogenicity in Rhesus Monkeys of DNA Plasmid, Recombinant Vaccinia Virus, and Replication-Defective Adenovirus Vectors Expressing a Human Immunodeficiency Virus Type... von Casimiro, Danilo R, Chen, Ling, Fu, Tong-Ming, Evans, Robert K, Caulfield, Michael J, Davies, Mary-Ellen, Tang, Aimin, Chen, Minchun, Huang, Lingyi, Harris, Virginia, Freed, Daniel C, Wilson, Keith A, Dubey, Sheri, Zhu, De-Min, Nawrocki, Denise, Mach, Henryk, Troutman, Robert, Isopi, Lynne, Williams, Donna, Hurni, William, Xu, Zheng, Smith, Jeffrey G, Wang, Su, Liu, Xu, Guan, Liming, Long, Romnie, Trigona, Wendy, Heidecker, Gwendolyn J, Perry, Helen C, Persaud, Natasha, Toner, Timothy J, Su, Qin, Liang, Xiaoping, Youil, Rima, Chastain, Michael, Bett, Andrew J, Volkin, David B, Emini, Emilio A, Shiver, John W

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A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering von Leusink, Maarten, Maitland-van der Zee, Anke H, Ding, Bo, Drenos, Fotios, van Iperen, Erik PA, Warren, Helen R, Caulfield, Mark J, Cupples, L Adrienne, Cushman, Mary, Hingorani, Aroon D, Hoogeveen, Ron C, Hovingh, G Kees, Kumari, Meena, Lange, Leslie A, Munroe, Patricia B, Nyberg, Fredrik, Schreiner, Pamela J, Sivapalaratnam, Suthesh, de Bakker, Paul IW, de Boer, Anthonius, Keating, Brendan J, Asselbergs, Folkert W, Onland-Moret, N Charlotte

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A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome von Doyle, Jefferson J, Doyle, Alexander J, Wilson, Nicole K, Habashi, Jennifer P, Bedja, Djahida, Whitworth, Ryan E, Lindsay, Mark E, Schoenhoff, Florian, Myers, Loretha, Huso, Nick, Bachir, Suha, Squires, Oliver, Rusholme, Benjamin, Ehsan, Hamid, Huso, David, Thomas, Craig J, Caulfield, Mark J, Van Eyk, Jennifer E, Judge, Daniel P, Dietz, Harry C

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Mendelian gene identification through mouse embryo viability screening von Cacheiro, Pilar, Westerberg, Carl Henrik, Mager, Jesse, Dickinson, Mary E, Nutter, Lauryl M J, Muñoz-Fuentes, Violeta, Hsu, Chih-Wei, Van den Veyver, Ignatia B, Flenniken, Ann M, McKerlie, Colin, Murray, Stephen A, Teboul, Lydia, Heaney, Jason D, Lloyd, K C Kent, Lanoue, Louise, Braun, Robert E, White, Jacqueline K, Creighton, Amie K, Laurin, Valerie, Guo, Ruolin, Qu, Dawei, Wells, Sara, Cleak, James, Bunton-Stasyshyn, Rosie, Stewart, Michelle, Harrisson, Jackie, Mason, Jeremy, Haseli Mashhadi, Hamed, Parkinson, Helen, Mallon, Ann-Marie, Smedley, Damian

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Process Evaluation Determines the Pathway of Success for a Health Center–Delivered, Nutrition Education Intervention for Infants in Trujillo, Peru von Robert, Rebecca C, Gittelsohn, Joel, Creed-Kanashiro, Hilary M, Penny, Mary E, Caulfield, Laura E, Narro, M Rocio, Black, Robert E

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Implementation examined in a health center-delivered, educational intervention that improved infant growth in Trujillo, Peru: successes and challenges von Robert, Rebecca C., Gittelsohn, Joel, Creed-Kanashiro, Hilary M., Penny, Mary E., Caulfield, Laura E., Narro, M. Rocio, Steckler, Allan, Black, Robert E.

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A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering von Leusink, Maarten, Maitland-Van Der Zee, Anke H, Ding, Bo, Drenos, Fotios, Van Iperen, Erik P A, Warren, Helen R, Caulfield, Mark J, Cupples, L. Adrienne, Cushman, Mary, Hingorani, Aroon D, Hoogeveen, Ron C, Hovingh, G. Kees, Kumari, Meena, Lange, Leslie A, Munroe, Patricia B, Nyberg, Fredrik, Schreiner, Pamela J, Sivapalaratnam, Suthesh, De Bakker, Paul I W, De Boer, Anthonius, Keating, Brendan J, Asselbergs, Folkert W, Onland-Moret, N. Charlotte

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