De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency von McFarland, Robert, Kirby, Denise M., Fowler, Kerry J., Ohtake, Akira, Ryan, Michael T., Amor, David J., Fletcher, Janice M., Dixon, Joanne W., Collins, Felicity A., Turnbull, Douglass M., Taylor, Robert W., Thorburn, David R.

Volltext

Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 von Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A., Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J., Tarpey, Patrick S., Robertson, Stephen P., Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W., Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L., Schwartz, Charles E., Friez, Michael J., Sadikovic, Bekim, Stevenson, Roger E.

Volltext

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 von Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A, Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J, Tarpey, Patrick S, Robertson, Stephen P, Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W, Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L, Schwartz, Charles E, Friez, Michael J, Sadikovic, Bekim, Stevenson, Roger E

Volltext

Folic acid fortification of foodstuffs von Dixon, Joanne W, Thurston, Lyall

Volltext

Folic acid and neural tube defects in New Zealand : a cautionary tale? von Dixon, J. W

Volltext

Bloom syndrome and maternal uniparental disomy for chromosome 15 von WOODAGE, T, MADHURI PRASAD, TRENT, R. J, DIXON, J. W, SELBY, R. E, ROMAIN, D. R, COLUMBANO-GREEN, L. M, GRAHAM, D, ROGAN, P. K, SEIP, J. R, SMITH, A

Volltext

The stress-responsive kinase DYRK2 activates heat shock factor 1 promoting resistance to proteotoxic stress von Moreno, Rita, Banerjee, Sourav, Jackson, Angus W., Quinn, Jean, Baillie, Gregg, Dixon, Jack E., Dinkova-Kostova, Albena T., Edwards, Joanne, de la Vega, Laureano

Volltext

Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data von Shi, Huwenbo, Kichaev, Gleb, Pasaniuc, Bogdan

Volltext

Prehospital transdermal glyceryl trinitrate in patients with ultra-acute presumed stroke (RIGHT-2): an ambulance-based, randomised, sham-controlled, blinded, phase 3 trial von Bath, Philip M, Cala, Lesley, Dixon, Mark, Mair, Grant, Potter, John, Roffe, Christine, Sandset, Else C, Sanossian, Nerses, Venables, Graham, Sprigg, Nikola, Amarenco, Pierre, Walker, Gemma, Gregory, Hayley, Smithson, Jennifer, Keeling, Joanne, Frowd, Nadia, Law, Zhe Kang, Payne, T, Spaight, R, Spaight, A, Whileman, A, Patel, C, Khan, S, Perkin, L, Arif, S, Sunman, W, Buck, A, Richardson, C, Constantin, C, Markova, S, Hedstrom, A, Keane, S, McKenzie, H, Mellows, K, Wyllie, H, Goffin, K, Ravenhill, G, Ford, L, Davison, W, Ho, C, McKenzie, E, Sylvester, N, Skene, I, Cuenoud, L, Daboo, P, Watchurst, C, Obarey, S, Pocock, H, Robinson, M, Oborn, M, Obeid, M, Whiting, R, Gagg, J, Hussain, M, Bagnall, C, Harrington, F, Nisbett, T, Jennings, G, Shaw, L, Worner, R, Saulat, A, Garfield-Smith, J, Haley, M, Rashed, K, Tanate, A, Wood, D, Matthews, L, Rees, N, Convery, C, Dixon, M, Davies, C, Chandler, A, Andrews, K, Horwood, P, Boldy, R, Jenkins, C, Price, F, Willberry, A, Alipio, F, Hiden, J, Varquez, R, Epstein, E, Hurdowar, S, Bellfield, R, Nair, A, Wilson, A, Gomes, P, Bwalya, A, Gillespie, A, Naylor, C, Clarkson, E, Finch, L, Datta, P, Needle, A, Walker, R, Murray, V, Ali, A, Kamara, C, Doyle, C, Willcoxson, P

Volltext

The acute toxicity of bitumen-influenced groundwaters from the oil sands region to aquatic organisms von Bauer, Anthony E., Hewitt, L. Mark, Roy, James W., Parrott, Joanne L., Bartlett, Adrienne J., Gillis, Patricia L., Norwood, Warren P., Rudy, Martina D., Campbell, Sheena D., Rodrigues, Maegan R., Brown, Lisa R., Vanderveen, Ruth, Deeth, Lorna E., Holman, Emily A.M., Salerno, Joseph, Marentette, Julie R., Lavalle, Christine, Sullivan, Cheryl, Shires, Kallie, Galicia, Melissa, Rubino, Julian, Brown, Mitra, O'Neill, Alicia, Bickerton, Greg, Dixon, D. George, Frank, Richard A.

Volltext

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer von Lindstrom, Sara, Dennis, Joe, Maranian, Mel J, Brand, Judith S, Nordestgaard, Børge G, Flyger, Henrik, Rahman, Nazneen, Fletcher, Olivia, Nevanlinna, Heli, Muranen, Taru A, Aaltonen, Kirsimari, Ahsan, Habibul, John, Esther M, Gammon, Marilie D, Ursin, Giske, Schmidt, Daniel F, Gapstur, Susan M, Gaudet, Mia M, Diver, W Ryan, Schumacher, Fredrick, Hoover, Robert N, Lambrechts, Diether, Wildiers, Hans, van Limbergen, Erik, Broeks, Annegien, Cornelissen, Sten, Couch, Fergus J, Olson, Janet E, Hallberg, Emily, Meijers-Heijboer, Hanne, Ito, Hidemi, Iwata, Hiroji, Guénel, Pascal, Sanchez, Marie, Marme, Frederik, Surowy, Harald, Sohn, Christof, Van Den Berg, David, Benitez, Javier, Lu, Wei, Gao, Yu-Tang, Andrulis, Irene L, Knight, Julia A, Mulligan, Anna Marie, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Lindblom, Annika, Hollestelle, Antoinette, Collée, J Margriet, Blot, William, Signorello, Lisa B, Cai, Qiuyin, Hou, Ming-Feng, Kristensen, Vessela N, Milne, Roger L, McLean, Catriona, Peeters, Petra, Khaw, Kay-Tee, Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Meindl, Alfons, Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Siriwanarangsan, Pornthep, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A, Beckmann, Matthias W, Haeberle, Lothar, Brenner, Hermann, Stegmaier, Christa, Ashworth, Alan, Schoemaker, Minouk J, Brinton, Louise, Zheng, Wei, Grip, Mervi, Brauch, Hiltrud, Radice, Paolo, Manoukian, Siranoush, Bernard, Loris, Dörk, Thilo, Hartikainen, Jaana M, Tollenaar, Robert A E M, Seynaeve, Caroline, Van Asperen, Christi J, Brennan, Paul, McKay, James, Neuhausen, Susan L, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S, Herrero, Daniel, Simard, Jacques, Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F

Volltext

Baricitinib versus dexamethasone for adults hospitalised with COVID-19 (ACTT-4): a randomised, double-blind, double placebo-controlled trial von Wolfe, Cameron R, Tomashek, Kay M, Mularski, Richard A, Pineda, Justino Regalado, Dretler, Alexandra W, de Castilla, Diego Lopez, Short, William R, McLellan, Susan L F, Iovine, Nicole M, Huprikar, Nikhil, Hohmann, Elizabeth, Kelley, Colleen F, Holodniy, Mark, Finberg, Robert W, Ko, Emily R, Engemann, John J, Ponce, Philip O, Larson, LuAnn, Melendez, Dante Paolo, de Leon, Alfredo Ponce, Cardoso, Anabela, de Bono, Stephanie, Ferreira, Jennifer L, Makowski, Mat, Bonnett, Tyler, Ghazaryan, Varduhi, Nayak, Seema U, Dodd, Lori E, Kalil, Andre C, Patterson, Jan E., Odrobina, Robert, Golamari, Reshma R., Riska, Paul F., Sosa, Nestor, Berhe, Mezgebe, Dishner, Emma, Hubel, Kinsley, Bautista Felix, Nora, Bechnak, Amer Ryan, Saklawi, Youssef, Walsh, Edward E., Falsey, Ann R., Olbrich, Norman, Levine, Corri, Kim, Hyun, Whitaker, Jennifer A., Luetkemeyer, Anne F., Bainbridge, Emma, Bhamidipati, Divya R., Nithin Gopalsamy, Srinivasa, Chary, Aarthi, Kim, Hong Bin, Benson, Constance A., McConnell, Kimberly, Wang, Jennifer P., Wessolossky, Mireya, Berjohn, Catherine, Utz, Gregory C., Bell, Taison D., Colombo, Christopher J., Colombo, Rhonda E., Tapson, Victor F., Grein, Jonathan, Sutterwala, Fayyaz, Ince, Dilek, Fung, Monica, Wyles, David, Sarcone, Ellen, Neumann, Henry, Hochman, Sarah, Mulligan, Mark, Eckhardt, Benjamin, Carmody, Ellie, Nadeau, Kari, Bessesen, Mary, Lambert, Allison A., Alicic, Radica Z., Saito, Sho, Hsieh, Lanny, Amin, Alpesh N., Candiotti, Keith A., Castro, Jose G., Antor, Maria A., Lalani, Tahaniyat, Borgetti, Scott A., Hoft, Daniel F., Chakrabarty, Melony, Lindholm, David A., Wellington, Trevor R., Husson, Jennifer S., Levine, Andrea R., Shafi, Humaira, Burgess, Timothy H., Nieuwoudt, Christina, Hill, Heather, Pettibone, Stephanie, Deye, Gregory A., Jurao, Robert, Koo, Hyung, Proschan, Michael

Volltext

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair von Zhou, Weibin, Otto, Edgar A, Cluckey, Andrew, Airik, Rannar, Hurd, Toby W, Chaki, Moumita, Diaz, Katrina, Lach, Francis P, Bennett, Geoffrey R, Gee, Heon Yung, Ghosh, Amiya K, Natarajan, Sivakumar, Thongthip, Supawat, Veturi, Uma, Allen, Susan J, Janssen, Sabine, Ramaswami, Gokul, Dixon, Joanne, Burkhalter, Felix, Spoendlin, Martin, Moch, Holger, Mihatsch, Michael J, Verine, Jerome, Reade, Richard, Soliman, Hany, Godin, Michel, Kiss, Denes, Monga, Guido, Mazzucco, Gianna, Amann, Kerstin, Artunc, Ferruh, Newland, Ronald C, Wiech, Thorsten, Zschiedrich, Stefan, Huber, Tobias B, Friedl, Andreas, Slaats, Gisela G, Joles, Jaap A, Goldschmeding, Roel, Washburn, Joseph, Giles, Rachel H, Levy, Shawn, Smogorzewska, Agata, Hildebrandt, Friedhelm

Volltext

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk von Mavaddat, Nasim, Steyerberg, Ewout W., Pharoah, Paul D.P., Abu-Ful, Zumuruda, Anton-Culver, Hoda, Benitez, Javier, Bonanni, Bernardo, Brucker, Sara Y., Burwinkel, Barbara, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Clarke, Christine L., Børresen-Dale, Anne-Lise, Sahlberg, Kristine, Ottestad, Lars, Schlichting, Ellen, Sauer, Toril, Engebråten, Olav, Naume, Bjørn, Kiserud, Cecile, Reinertsen, Kristin, Geisler, Jürgen, Alnæs, Grethe Grenaker, Collée, J. Margriet, Czene, Kamila, Daly, Mary B., Dwek, Miriam, Eccles, Diana M., Fasching, Peter A., Flyger, Henrik, Gago-Dominguez, Manuela, García-Sáenz, José A., González-Neira, Anna, Haiman, Christopher A., Hamann, Ute, Heemskerk-Gerritsen, Bernadette A.M., Pathmanathan, Nirmala, Simpson, Peter, Graham, J. Dinny, Sachchithananthan, Mythily, Balleine, Rosemary, Bennett, Ian, Brennan, Meagan, Brown, Melissa, Burke, Jo, Chauhan, Deepa, Dickson, Rebecca, Edkins, Ted, Edwards, Stacey, Field, Michael, Flanagan, James, Friedlander, Michael, George, Peter, Harris, Marion, Hayward, Nick, Hopper, John, Hunt, Clare, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Lawrence, Mitchell, McLachlan, Sue Anne, Patterson, Briony, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Salisbury, Elizabeth, Saunders, Christobel, Sexton, Adrienne, Southey, Melissa, Spurdle, Amanda, Visvader, Jane, Williams, Rachael, Ito, Hidemi, Jakimovska, Milena, Janni, Wolfgang, Kang, Daehee, Kristensen, Vessela N., Lubiński, Jan, Mannermaa, Arto, Margolin, Sara, Milne, Roger L., Muranen, Taru A., Neuhausen, Susan L., Peto, Julian, Petridis, Christos, Rennert, Gad, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J., Schwentner, Lukas, Scott, Christopher, See, Mee-Hoong, Shen, Chen-Yang, Shu, Xiao-Ou, Spinelli, John J., Teo, Soo Hwang, van Ongeval, Chantal, van Veen, Elke M., Wolk, Alicja

Volltext

Distinct aspects of frontal lobe structure mediate age-related differences in fluid intelligence and multitasking von Kievit, Rogier A., Davis, Simon W., Mitchell, Daniel J., Taylor, Jason R., Duncan, John, Henson, Richard N.A.

Volltext

Sex in Plasmodium : a sign of commitment von Dixon, Matthew W.A, Thompson, Joanne, Gardiner, Donald L, Trenholme, Katharine R

Volltext

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis von Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.

Volltext

Multiple determinants of lifespan memory differences von Henson, Richard N., Campbell, Karen L., Davis, Simon W., Taylor, Jason R., Emery, Tina, Erzinclioglu, Sharon, Kievit, Rogier A.

Volltext

Mendelian randomisation study of smoking exposure in relation to breast cancer risk von Park, Hanla A., Neumeyer, Sonja, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Beane Freeman, Laura E., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Campa, Daniele, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Couch, Fergus J., Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dwek, Miriam, Eliassen, A. Heather, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Giles, Graham G., Goldgar, David E., Grip, Mervi, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Han, Sileny, Hart, Steven N., He, Wei, Heemskerk-Gerritsen, Bernadette A. M., Hopper, John L., Jakubowska, Anna, John, Esther M., Jung, Audrey, Kapoor, Pooja Middha, Keeman, Renske, Kitahara, Cari M., Koppert, Linetta B., Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Lo, Wing-Yee, Lubiński, Jan, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Meindl, Alfons, Menon, Usha, Milne, Roger L., Nevanlinna, Heli, Nordestgaard, Børge G., Offit, Kenneth, Olshan, Andrew F., Olsson, Håkan, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Radice, Paolo, Rennert, Gad, Rennert, Hedy S., Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shu, Xiao-Ou, Simard, Jacques, Smeets, Ann, Southey, Melissa C., Spinelli, John J., Tamimi, Rulla M., Tapper, William J., Terry, Mary Beth, Troester, Melissa A., Truong, Thérèse, van Veen, Elke M., Vijai, Joseph, Wang, Sophia, Wendt, Camilla, Wolk, Alicja, Dunning, Alison M., Pharoah, Paul D. P., Chang-Claude, Jenny

Volltext

Who gains clinical benefit from using insulin pump therapy? A qualitative study of the perceptions and views of health professionals involved in the Relative Effectiveness of Pumps... von Lawton, J., Kirkham, J., Rankin, D., White, D. A., Elliott, J., Jaap, A., Smithson, W. H., Heller, S.

Volltext