A histone H3K36 chromatin switch coordinates DNA double-strand break repair pathway choice by Pai, Chen-Chun, Deegan, Rachel S., Subramanian, Lakxmi, Gal, Csenge, Sarkar, Sovan, Blaikley, Elizabeth J., Walker, Carol, Hulme, Lydia, Bernhard, Eric, Codlin, Sandra, Bähler, Jürg, Allshire, Robin, Whitehall, Simon, Humphrey, Timothy C.

Get full text

Decoy receptors block TRAIL sensitivity at a supracellular level: the role of stromal cells in controlling tumour TRAIL sensitivity by O'Leary, L, van der Sloot, A M, Reis, C R, Deegan, S, Ryan, A E, Dhami, S P S, Murillo, L S, Cool, R H, de Sampaio, P Correa, Thompson, K, Murphy, G, Quax, W J, Serrano, L, Samali, A, Szegezdi, E

Get full text

Set2 Methyltransferase Facilitates DNA Replication and Promotes Genotoxic Stress Responses through MBF-Dependent Transcription by Pai, Chen-Chun, Kishkevich, Anastasiya, Deegan, Rachel S., Keszthelyi, Andrea, Folkes, Lisa, Kearsey, Stephen E., De León, Nagore, Soriano, Ignacio, de Bruin, Robertus Antonius Maria, Carr, Antony M., Humphrey, Timothy C.

Get full text

The DNA damage checkpoint pathway promotes extensive resection and nucleotide synthesis to facilitate homologous recombination repair and genome stability in fission yeast by Blaikley, Elizabeth J., Tinline-Purvis, Helen, Kasparek, Torben R., Marguerat, Samuel, Sarkar, Sovan, Hulme, Lydia, Hussey, Sharon, Wee, Boon-Yu, Deegan, Rachel S., Walker, Carol A., Pai, Chen-Chun, Bähler, Jürg, Nakagawa, Takuro, Humphrey, Timothy C.

Get full text

Cdt1 proteolysis is promoted by dual PIP degrons and is modulated by PCNA ubiquitylation by Guarino, Estrella, Shepherd, Marianne E. A., Salguero, Israel, Hua, Hui, Deegan, Rachel S., Kearsey, Stephen E.

Get full text

What service users want: a new clinic results service. Can we satisfy both patients' needs and wants? by Challenor, R, Deegan, S

Get full text

Methods for Monitoring Endoplasmic Reticulum Stress and the Unfolded Protein Response by Samali, Afshin, FitzGerald, Una, Deegan, Shane, Gupta, Sanjeev

Get full text

In-depth phenotyping for clinical stratification of Gaucher disease by D'Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y, Poole, Kenneth, Jones, Simon A, Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H, Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M

Get full text

The era of reference genomes in conservation genomics by Formenti, Giulio, Bista, Iliana, Bleidorn, Christoph, Ciofi, Claudio, Höglund, Jacob, Paez, Sadye, Paez, Sadye, Palsbøll, Per J., Pampoulie, Christophe, Ruiz-López, María J., de Vries, Jan, Zhang, Guojie, Jarvis, Erich D., Bálint, Miklós, Formenti, Giulio, Fernandes, Carlos, Bista, Iliana, Crottini, Angelica, Mouton, Alice, Palsbøll, Per, Pampoulie, Christophe, Svardal, Hannes, de Vries, Jan, Zhang, Goujie, Mazzoni, Camila J., Bálint, Miklós, Alioto, Tyler S., Almudi, Isabel, Alvarez, Nadir, Alves, Paulo C., Amorim, Isabel R., Antunes, Agostinho, Arribas, Paula, Baldrian, Petr, Berg, Paul R., Böhne, Astrid, Bonisoli-Alquati, Andrea, Boussau, Bastien, Breton, Catherine M., Buzan, Elena, Campos, Paula F., Carreras, Carlos, Castro, L. FIlipe, Conti, Elena, Croll, Daniel, Cunha, Mónica V., Dimitrov, Dimitar, Faria, Rui, Ficetola, Gentile Francesco, Flot, Jean-François, Gabaldón, Toni, Galea Agius, Dolores R., Giani, Alice M., Gilbert, M. Thomas P., Grebenc, Tine, Guschanski, Katerina, Hawlitschek, Oliver, Heintzman, Peter D., Heinze, Berthold, Hiller, Michael, Klinga, Peter, Kratochwil, Claudius F., Layton, Kara K.S., Leonard, Jennifer A., Lerat, Emmanuelle, Liti, Gianni, Manousaki, Tereza, Marques-Bonet, Tomas, Matos-Maraví, Pável, Maumus, Florian, Mc Cartney, Ann M., Mengual, Ximo, Mysłajek, Robert W., Neiber, Marco T., Novo, Marta, Ozretić, Petar, Pascual, Marta, Pavlek, Martina, Pegueroles, Cinta, Pellissier, Loïc, Pesole, Graziano, Primmer, Craig R., Riesgo, Ana, Rüber, Lukas, Salvi, Daniele, Seehausen, Ole, Seidel, Matthias, Secomandi, Simona, Studer, Bruno, Urban, Lara, Vasemägi, Anti, Vella, Adriana, Vella, Noel, Vernes, Sonja C., Vernesi, Cristiano, Vieites, David R., Wheat, Christopher W., Wörheide, Gert, Wurm, Yannick, Zammit, Gabrielle

Get full text

How genomics can help biodiversity conservation by Theissinger, Kathrin, Fernandes, Carlos, Formenti, Giulio, Bista, Iliana, Bleidorn, Christoph, Bombarely, Aureliano, Crottini, Angelica, Gallo, Guido R., Godoy, José A., Jentoft, Sissel, Mouton, Alice, Oomen, Rebekah A., Paez, Sadye, Palsbøll, Per J., Pampoulie, Christophe, Ruiz-López, María J., Theofanopoulou, Constantina, de Vries, Jan, Waldvogel, Ann-Marie, Zhang, Guojie, Jarvis, Erich D., Ciofi, Claudio, Mazzoni, Camila J., Höglund, Jacob, Aghayan, Sargis A., Alioto, Tyler S., Almudi, Isabel, Alvarez, Nadir, Alves, Paulo C., Amorim do Rosario, Isabel R., Antunes, Agostinho, Arribas, Paula, Baldrian, Petr, Bertorelle, Giorgio, Böhne, Astrid, Bonisoli-Alquati, Andrea, Boštjančić, Ljudevit L., Boussau, Bastien, Buzan, Elena, Campos, Paula F., Carreras, Carlos, Castro, L. FIlipe C., Chueca, Luis J., Conti, Elena, Croll, Daniel, Dennis, Alice B., Dimitrov, Dimitar, Favre, Adrien, Fedrigo, Olivier D., Fernández, Rosa, Ficetola, Gentile Francesco, Gabaldón, Toni, Agius, Dolores R., Gilbert, M. Thomas P., Grebenc, Tine, Guschanski, Katerina, Guyot, Romain, Hausdorf, Bernhard, Hawlitschek, Oliver, Heintzman, Peter D., Heinze, Berthold, Hiller, Michael, Husemann, Martin, Kloch, Agnieszka, Kusche, Henrik, Layton, Kara K.S., Lerat, Emmanuelle, Manousaki, Tereza, Marques-Bonet, Tomas, Matschiner, Michael, Mc Cartney, Ann M., Meiri, Shai, Melo-Ferreira, José, Mengual, Ximo, Monaghan, Michael T., Montagna, Matteo, Mysłajek, Robert W., Novo, Marta, Ozretić, Petar, Pârvulescu, Lucian, Pascual, Marta, Paulo, Octávio S., Pavlek, Martina, Pesole, Graziano, Primmer, Craig R., Riesgo, Ana, Rubolini, Diego, Salvi, Daniele, Seehausen, Ole, Seidel, Matthias, Studer, Bruno, Theodoridis, Spyros, Thines, Marco, Vasemägi, Anti, Vernes, Sonja C., Vernesi, Cristiano, Vieites, David R., Wörheide, Gert, Wurm, Yannick, Zammit, Gabrielle

Get full text

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease by Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.

Get full text

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial by Diaz-Manera, Jordi, Kishnani, Priya S, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Berger, Kenneth I, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Choi, Young Chul, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Deegan, Patrick, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Komaki, Hirofumi, Longo, Nicola, Malinova, Vera, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Mongini, Tiziana Enrica, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tarnopolsky, Mark, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Billy, Jenny, Boschi, Silvia, Carrera Garcia, Laura, Chase, Lauren, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Pasnoor, Mamatha, Questienne, Claire, Ramos Lopes, Margarida, Riedl, Michaela, Salort-Campana, Emmanuelle, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien

Get full text

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind,... by Schoser, Benedikt, Roberts, Mark, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen, Kishnani, Priya S, Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Cornelia, Kornblum, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu

Get full text

Sentinel Pigeon Surveillance for West Nile Virus by Using Lard-Can Traps at Differing Elevations and Canopy Cover Classes by Deegan, Carrie S., Burns, Joseph E., Huguenin, Michael, Steinhaus, Eliza Y., Panella, Nicholas A., Beckett, Susan, Komar, Nicholas

Get full text

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes by West, Hannah, Carss, Keren, Shakeel, Hassan, Adlard, Julian, Cole, Trevor, Kwong, Ava, Paterson, Joan, Searle, Claire, Skytte, Anne-Bine, Aitman, Timothy, Ambegaonkar, Gautum, Antrobus, Richard, Arno, Gavin, Astle, William, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Bolton-Maggs, Paula, Booth, Claire, Clements-Brod, Naomi, Clowes, Virginia, Collins, Peter, Cookson, Victoria, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Dewhurst, Eleanor, Doffinger, Rainer, Drewe, Elizabeth, Favier, Remi, Firth, Helen, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gissen, Paul, Gomez, Keith, Graf, Stefan, Gräf, Stefan, Greenhalgh, Alan, Hackett, Scott, Haimel, Matthias, Herwadkar, Archana, Holder, Muriel, Huissoon, Aarnoud, James, Roger, Kennedy, Fiona, Kingston, Nathalie, Kuijpers, Taco, Lawrie, Allan, Lentaigne, Claire, Machado, Rajiv, Maher, Eamonn, Mangles, Sarah, Manson, Ania, Matser, Vera, McDermott, Elizabeth, Megy, Karyn, Millar, Carolyn M., Morrell, Nicholas, Ouwehand, Willem H., Papadia, Sofia, Payne, Jeanette, Peacock, Andrew, Pollock, Val, Quinti, Isabella, Rayner-Matthews, Paula, Rehnstrom, Karola, Rhodes, Christopher J., Richardson, Sylvia, Richter, Alex, Rondina, Matthew, Rosser, Elisabeth, Rue-Albrecht, Kevin, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulze, Harald, Seneviratne, Suranjith, Shamardina, Olga, Simeoni, Ilenia, Staines, Simon, Stark, Hannah, Stock, Sophie, Thaventhiran, James, Thompson, Dorothy, Toh, Cheng-Hock, Turek, Wojciech, Wassmer, Evangeline, Watt, Christopher, Wharton, John, Williamson, Catherine, Woods, Geoff, Wort, John, Yeatman, Nigel, Tischkowitz, Marc D., Maher, Eamonn R.

Get full text

A pragmatic randomized trial of a polypill-based strategy to improve use of indicated preventive treatments in people at high cardiovascular disease risk by Patel, Anushka, Cass, Alan, Peiris, David, Usherwood, Tim, Brown, Alex, Jan, Stephen, Neal, Bruce, Hillis, Graham S, Rafter, Natasha, Tonkin, Andrew, Webster, Ruth, Billot, Laurent, Bompoint, Severine, Burch, Carol, Burke, Hugh, Hayman, Noel, Molanus, Barbara, Reid, Christopher M, Shiel, Louise, Togni, Samantha, Rodgers, Anthony

Get full text

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) by Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Byrne, Barry J., Claeys, Kristl G., Díaz-Manera, Jordi, Laforêt, Pascal, Roberts, Mark, Toscano, Antonio, van der Ploeg, Ans T., Castelli, Jeff, Goldman, Mitchell, Holdbrook, Fred, Sitaraman Das, Sheela, Wasfi, Yasmine, Mozaffar, Tahseen

Get full text

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) by Parenti, Giancarlo, Fecarotta, Simona, Alagia, Marianna, Attaianese, Federica, Verde, Alessandra, Tarallo, Antonietta, Gragnaniello, Vincenza, Ziagaki, Athanasia, Guimaraes, Maria Jose', Aguiar, Patricio, Hahn, Andreas, Azevedo, Olga, Donati, Maria Alice, Kiec-Wilk, Beata, Scarpa, Maurizio, van der Beek, Nadine A M E, Del Toro Riera, Mireja, Germain, Dominique P, Huidekoper, Hidde, van den Hout, Johanna M P, van der Ploeg, Ans T

Get full text

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network by Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio

Get full text

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort... by Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè

Get full text