Search Results - "Foulger, Rebecca"

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels by Martin, Antonio Rueda, Williams, Eleanor, Foulger, Rebecca E., Leigh, Sarah, Daugherty, Louise C., Niblock, Olivia, Leong, Ivone U. S., Smith, Katherine R., Gerasimenko, Oleg, Haraldsdottir, Eik, Thomas, Ellen, Scott, Richard H., Baple, Emma, Tucci, Arianna, Brittain, Helen, de Burca, Anna, Ibañez, Kristina, Kasperaviciute, Dalia, Smedley, Damian, Caulfield, Mark, Rendon, Augusto, McDonagh, Ellen M.

“…A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this…”
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SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse by Koopmans, Frank, van Nierop, Pim, Andres-Alonso, Maria, Byrnes, Andrea, Cijsouw, Tony, Coba, Marcelo P., Cornelisse, L. Niels, Farrell, Ryan J., Goldschmidt, Hana L., Howrigan, Daniel P., Hussain, Natasha K., Imig, Cordelia, de Jong, Arthur P.H., Jung, Hwajin, Kohansalnodehi, Mahdokht, Kramarz, Barbara, Lipstein, Noa, Lovering, Ruth C., MacGillavry, Harold, Mariano, Vittoria, Mi, Huaiyu, Ninov, Momchil, Osumi-Sutherland, David, Pielot, Rainer, Smalla, Karl-Heinz, Tang, Haiming, Tashman, Katherine, Toonen, Ruud F.G., Verpelli, Chiara, Reig-Viader, Rita, Watanabe, Kyoko, van Weering, Jan, Achsel, Tilmann, Ashrafi, Ghazaleh, Asi, Nimra, Brown, Tyler C., De Camilli, Pietro, Feuermann, Marc, Foulger, Rebecca E., Gaudet, Pascale, Joglekar, Anoushka, Kanellopoulos, Alexandros, Malenka, Robert, Nicoll, Roger A., Pulido, Camila, de Juan-Sanz, Jaime, Sheng, Morgan, Südhof, Thomas C., Tilgner, Hagen U., Bagni, Claudia, Bayés, Àlex, Biederer, Thomas, Brose, Nils, Chua, John Jia En, Dieterich, Daniela C., Gundelfinger, Eckart D., Hoogenraad, Casper, Huganir, Richard L., Jahn, Reinhard, Kaeser, Pascal S., Kim, Eunjoon, Kreutz, Michael R., McPherson, Peter S., Neale, Ben M., O’Connor, Vincent, Posthuma, Danielle, Ryan, Timothy A., Sala, Carlo, Feng, Guoping, Hyman, Steven E., Thomas, Paul D., Smit, August B., Verhage, Matthijs

“…Synapses are fundamental information-processing units of the brain, and synaptic dysregulation is central to many brain disorders (“synaptopathies”). However,…”
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The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources by DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., Birney, Ewan, Bocchini, Carol, Bruford, Elspeth A., Coffey, Alison J., Collins, Heather, Cunningham, Fiona, Daugherty, Louise C., Einhorn, Yaron, Firth, Helen V., Fitzpatrick, David R., Foulger, Rebecca E., Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew R., Leigh, Sarah E., Leong, Ivone U.S., Maddirevula, Sateesh, Martin, Christa L., McDonagh, Ellen M., Olry, Annie, Puzriakova, Arina, Radtke, Kelly, Ramos, Erin M., Rath, Ana, Riggs, Erin Rooney, Roberts, Angharad M., Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Tweedie, Susan, Ware, James S., Weller, Phillip, Williams, Eleanor, Wright, Caroline F., Yates, Thabo Michael, Rehm, Heidi L.

“…Several groups and resources provide information that pertains to the validity of gene–disease relationships used in genomic medicine and research; however,…”
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A method for increasing expressivity of Gene Ontology annotations using a compositional approach by Huntley, Rachael P, Harris, Midori A, Alam-Faruque, Yasmin, Blake, Judith A, Carbon, Seth, Dietze, Heiko, Dimmer, Emily C, Foulger, Rebecca E, Hill, David P, Khodiyar, Varsha K, Lock, Antonia, Lomax, Jane, Lovering, Ruth C, Mutowo-Meullenet, Prudence, Sawford, Tony, Van Auken, Kimberly, Wood, Valerie, Mungall, Christopher J

“…The Gene Ontology project integrates data about the function of gene products across a diverse range of organisms, allowing the transfer of knowledge from…”
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Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution by Stark, Zornitza, Foulger, Rebecca E., Williams, Eleanor, Thompson, Bryony A., Patel, Chirag, Lunke, Sebastian, Snow, Catherine, Leong, Ivone U.S., Puzriakova, Arina, Daugherty, Louise C., Leigh, Sarah, Boustred, Christopher, Niblock, Olivia, Rueda-Martin, Antonio, Gerasimenko, Oleg, Savage, Kevin, Bellamy, William, Lin, Victor San Kho, Valls, Roman, Gordon, Lavinia, Brittain, Helen K., Thomas, Ellen R.A., Taylor Tavares, Ana Lisa, McEntagart, Meriel, White, Susan M., Tan, Tiong Y., Yeung, Alison, Downie, Lilian, Macciocca, Ivan, Savva, Elena, Lee, Crystle, Roesley, Ain, De Fazio, Paul, Deller, Jane, Deans, Zandra C., Hill, Sue L., Caulfield, Mark J., North, Kathryn N., Scott, Richard H., Rendon, Augusto, Hofmann, Oliver, McDonagh, Ellen M.

“…Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice,…”
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Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice by Leong, Ivone U S, Cabrera, Claudia P, Cipriani, Valentina, Ross, Paul J, Turner, Richard M, Stuckey, Alex, Sanghvi, Sonali, Pasko, Dorota, Moutsianas, Loukas, Odhams, Christopher A, Elgar, Greg S, Chan, Georgia, Giess, Adam, Walker, Susan, Foulger, Rebecca E, Williams, Eleanor M, Daugherty, Louise C, Rueda-Martin, Antonio, Rhodes, Daniel J, Niblock, Olivia, Pickard, Alexandra, Marks, Lauren, Leigh, Sarah E A, Welland, Matthew J, Bleda, Marta, Snow, Catherine, Deans, Zandra, Murugaesu, Nirupa, Scott, Richard H, Barnes, Michael R, Brown, Matthew A, Rendon, Augusto, Hill, Sue, Sosinsky, Alona, Caulfield, Mark J, McDonagh, Ellen M

“…As part of the 100,000 Genomes Project, we set out to assess the potential viability and clinical impact of reporting genetic variants associated with…”
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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia by Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, García, Alejandro Cisterna, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Wood, Nick, Hardy, John A, Smedley, Damian, Houlden, Henry, Botía, Juan, Ryten, Mina

“…Abstract Improvements in functional genomic annotation have led to a critical mass of neurogenetic discoveries. This is exemplified in hereditary ataxia, a…”
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Dovetailing biology and chemistry: integrating the Gene Ontology with the ChEBI chemical ontology by Hill, David P, Adams, Nico, Bada, Mike, Batchelor, Colin, Berardini, Tanya Z, Dietze, Heiko, Drabkin, Harold J, Ennis, Marcus, Foulger, Rebecca E, Harris, Midori A, Hastings, Janna, Kale, Namrata S, de Matos, Paula, Mungall, Christopher J, Owen, Gareth, Roncaglia, Paola, Steinbeck, Christoph, Turner, Steve, Lomax, Jane

“…The Gene Ontology (GO) facilitates the description of the action of gene products in a biological context. Many GO terms refer to chemical entities that…”
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Representing kidney development using the gene ontology by Alam-Faruque, Yasmin, Hill, David P, Dimmer, Emily C, Harris, Midori A, Foulger, Rebecca E, Tweedie, Susan, Attrill, Helen, Howe, Douglas G, Thomas, Stephen Randall, Davidson, Duncan, Woolf, Adrian S, Blake, Judith A, Mungall, Christopher J, O'Donovan, Claire, Apweiler, Rolf, Huntley, Rachael P

“…Gene Ontology (GO) provides dynamic controlled vocabularies to aid in the description of the functional biological attributes and subcellular locations of gene…”
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The Gene Ontology (GO) Cellular Component Ontology: integration with SAO (Subcellular Anatomy Ontology) and other recent developments by Roncaglia, Paola, Martone, Maryann E, Hill, David P, Berardini, Tanya Z, Foulger, Rebecca E, Imam, Fahim T, Drabkin, Harold, Mungall, Christopher J, Lomax, Jane

“…The Gene Ontology (GO) (http://www.geneontology.org/) contains a set of terms for describing the activity and actions of gene products across all kingdoms of…”
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The ins and outs of eukaryotic viruses: Knowledge base and ontology of a viral infection by Hulo, Chantal, Masson, Patrick, de Castro, Edouard, Auchincloss, Andrea H, Foulger, Rebecca, Poux, Sylvain, Lomax, Jane, Bougueleret, Lydie, Xenarios, Ioannis, Le Mercier, Philippe

“…Viruses are genetically diverse, infect a wide range of tissues and host cells and follow unique processes for replicating themselves. All these processes were…”
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Improving Interpretation of Cardiac Phenotypes and Enhancing Discovery With Expanded Knowledge in the Gene Ontology by Lovering, Ruth C, Roncaglia, Paola, Howe, Douglas G, Laulederkind, Stanley J F, Khodiyar, Varsha K, Berardini, Tanya Z, Tweedie, Susan, Foulger, Rebecca E, Osumi-Sutherland, David, Campbell, Nancy H, Huntley, Rachael P, Talmud, Philippa J, Blake, Judith A, Breckenridge, Ross, Riley, Paul R, Lambiase, Pier D, Elliott, Perry M, Clapp, Lucie, Tinker, Andrew, Hill, David P

“…A systems biology approach to cardiac physiology requires a comprehensive representation of how coordinated processes operate in the heart, as well as the…”
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TermGenie - a web-application for pattern-based ontology class generation by Dietze, Heiko, Berardini, Tanya Z, Foulger, Rebecca E, Hill, David P, Lomax, Jane, Osumi-Sutherland, David, Roncaglia, Paola, Mungall, Christopher J

“…Biological ontologies are continually growing and improving from requests for new classes (terms) by biocurators. These ontology requests can frequently create…”
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An integrated ontology resource to explore and study host-virus relationships by Masson, Patrick, Hulo, Chantal, de Castro, Edouard, Foulger, Rebecca, Poux, Sylvain, Bridge, Alan, Lomax, Jane, Bougueleret, Lydie, Xenarios, Ioannis, Le Mercier, Philippe

“…Our growing knowledge of viruses reveals how these pathogens manage to evade innate host defenses. A global scheme emerges in which many viruses usurp key…”
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Predicting gene function from patterns of annotation by King, Oliver D, Foulger, Rebecca E, Dwight, Selina S, White, James V, Roth, Frederick P

“…The Gene Ontology (GO) Consortium has produced a controlled vocabulary for annotation of gene function that is used in many organism-specific gene annotation…”
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report by Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana L T, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone U S, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu

“…The 100,000 Genomes Project is a U.K. government project that is sequencing the genomes of patients with cancer or rare or infectious diseases. This pilot…”
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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 by 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

“…Repeat expansion disorders affect about 1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats…”
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The Universal Protein Resource (UniProt) in 2010 by Anon

“…The primary mission of UniProt is to support biological research by maintaining a stable, comprehensive, fully classified, richly and accurately annotated…”
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Ongoing and future developments at the Universal Protein Resource by Morgat, Anne, Apweiler, Rolf, Martin, Maria-Jesus, O'Donovan, C., Magrane, M., Alam-Faruque, Y., Antunes, R., Barrell, D., Bely, B., Bingley, M., Binns, D., Bower, L., Browne, P., Wm, Chan, Dimmer, E., Eberhardt, R., Fazzini, Pier-Francesco, Fedotov, A., Foulger, R., Garavelli, J., Lg, Castro, Huntley, R., Jacobsen, J., Kleen, M., Laiho, K., Legge, D., Lin, Q., Liu, W., Luo, J., Orchard, S., Patient, S., Pichler, K., Poggioli, D., Pontikos, N., Pruess, M., Rosanoff, S., Sawford, T., Sehra, H., Turner, E., Corbett, M., Donnelly, M., Rensburg P, Van, Xenarios, I., Bougueleret, L., Auchincloss, A., Argoud-Puy, G., Axelsen, K., Bairoch, A., Baratin, D., Mc, Blatter, Boeckmann, B., Bolleman, J., Bollondi, L., Boutet, E., Sb, Quintaje, Breuza, L., Bridge, A., Decastro, E., Coudert, E., Cusin, I., Doche, M., Dornevil, D., Duvaud, S., Estreicher, A., Famiglietti, L., Feuermann, M., Gehant, S., Ferro, S., Gasteiger, E., Gateau, A., Gerritsen, V., Gos, A., Gruaz-Gumowski, N., Hinz, U., Hulo, C., Hulo, N., James, J., Jimenez, S., Jungo, F., Kappler, T., Keller, G., Lara, V., Lemercier, P., Lieberherr, D., Martin, X., Masson, P., Moinat, M., Paesano, S., Pedruzzi, I., Pilbout, S., Poux, S., Pozzato, M., Redaschi, N., Rivoire, C., Roechert, B., Schneider, M., Sigrist, C., Sonesson, K., Staehli, S., Stanley, E.

“…The primary mission of Universal Protein Resource (UniProt) is to support biological research by maintaining a stable, comprehensive, fully classified, richly…”
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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases by Blauwendraat, Cornelis, Faghri, Faraz, Pihlstrom, Lasse, Geiger, Joshua T, Elbaz, Alexis, Lesage, Suzanne, Corvol, Jean-Christophe, May, Patrick, Nicolas, Aude, Abramzon, Yevgeniya, Murphy, Natalie A, Gibbs, J. Raphael, Ryten, Mina, Ferrari, Raffaele, Bras, Jose, Guerreiro, Rita, Williams, Julie, Sims, Rebecca, Lubbe, Steven, Hernandez, Dena G, Mok, Kin Y, Robak, Laurie, Campbell, Roy H, Rogaeva, Ekaterina, Traynor, Bryan J, Chia, Ruth, Chung, Sun Ju, Hardy, John A, Brice, Alexis, Wood, Nicholas W, Houlden, Henry, Shulman, Joshua M, Morris, Huw R, Gasser, Thomas, Krüger, Rejko, Heutink, Peter, Sharma, Manu, Simón-Sánchez, Javier, Nalls, Mike A, Singleton, Andrew B, Scholz, Sonja W

“…Abstract Genetics has proven to be a powerful approach in neurodegenerative diseases research, resulting in the identification of numerous causal and risk…”
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