Pituitary adenylate cyclase-activating peptide induces long-lasting neuroprotection through the induction of activity-dependent signaling via the cyclic AMP response element-bindin...

por Baxter, Paul S, Martel, Marc-Andre, McMahon, Aoife, Kind, Peter C, Hardingham, Giles E
Publicado 2011

The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements

por Morales, Joannella, McMahon, Aoife C., Loveland, Jane, Perry, Emily, Frankish, Adam, Hunt, Sarah, Armean, Irina M., Flicek, Paul, Cunningham, Fiona
Publicado 2021

Sequencing-based genome-wide association studies reporting standards

por McMahon, Aoife, Lewis, Elizabeth, Buniello, Annalisa, Cerezo, Maria, Hall, Peggy, Sollis, Elliot, Parkinson, Helen, Hindorff, Lucia A., Harris, Laura W., MacArthur, Jacqueline A.L.
Publicado 2021

Scaling up data curation using deep learning: An application to literature triage in genomic variation resources

por Lee, Kyubum, Famiglietti, Maria Livia, McMahon, Aoife, Wei, Chih-Hsuan, MacArthur, Jacqueline Ann Langdon, Poux, Sylvain, Breuza, Lionel, Bridge, Alan, Cunningham, Fiona, Xenarios, Ioannis, Lu, Zhiyong
Publicado 2018

The Subtype of GluN2 C-terminal Domain Determines the Response to Excitotoxic Insults

por Martel, Marc-André, Ryan, Tomás J., Bell, Karen F.S., Fowler, Jill H., McMahon, Aoife, Al-Mubarak, Bashayer, Komiyama, Noboru H., Horsburgh, Karen, Kind, Peter C., Grant, Seth G.N., Wyllie, David J.A., Hardingham, Giles E.
Publicado 2012

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

por MacArthur, Jacqueline, Bowler, Emily, Cerezo, Maria, Gil, Laurent, Hall, Peggy, Hastings, Emma, Junkins, Heather, McMahon, Aoife, Milano, Annalisa, Morales, Joannella, Pendlington, Zoe May, Welter, Danielle, Burdett, Tony, Hindorff, Lucia, Flicek, Paul, Cunningham, Fiona, Parkinson, Helen
Publicado 2017

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

por Morales, Joannella, Welter, Danielle, Bowler, Emily H., Cerezo, Maria, Harris, Laura W., McMahon, Aoife C., Hall, Peggy, Junkins, Heather A., Milano, Annalisa, Hastings, Emma, Malangone, Cinzia, Buniello, Annalisa, Burdett, Tony, Flicek, Paul, Parkinson, Helen, Cunningham, Fiona, Hindorff, Lucia A., MacArthur, Jacqueline A. L.
Publicado 2018

Workshop proceedings: GWAS summary statistics standards and sharing

por MacArthur, Jacqueline A.L., Buniello, Annalisa, Harris, Laura W., Hayhurst, James, McMahon, Aoife, Sollis, Elliot, Cerezo, Maria, Hall, Peggy, Lewis, Elizabeth, Whetzel, Patricia L., Bahcall, Orli G., Barroso, Inês, Carroll, Robert J., Inouye, Michael, Manolio, Teri A., Rich, Stephen S., Hindorff, Lucia A., Wiley, Ken, Parkinson, Helen
Publicado 2021

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

por Buniello, Annalisa, MacArthur, Jacqueline A L, Cerezo, Maria, Harris, Laura W, Hayhurst, James, Malangone, Cinzia, McMahon, Aoife, Morales, Joannella, Mountjoy, Edward, Sollis, Elliot, Suveges, Daniel, Vrousgou, Olga, Whetzel, Patricia L, Amode, Ridwan, Guillen, Jose A, Riat, Harpreet S, Trevanion, Stephen J, Hall, Peggy, Junkins, Heather, Flicek, Paul, Burdett, Tony, Hindorff, Lucia A, Cunningham, Fiona, Parkinson, Helen
Publicado 2019

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

por Sollis, Elliot, Mosaku, Abayomi, Abid, Ala, Buniello, Annalisa, Cerezo, Maria, Gil, Laurent, Groza, Tudor, Güneş, Osman, Hall, Peggy, Hayhurst, James, Ibrahim, Arwa, Ji, Yue, John, Sajo, Lewis, Elizabeth, MacArthur, Jacqueline A L, McMahon, Aoife, Osumi-Sutherland, David, Panoutsopoulou, Kalliope, Pendlington, Zoë, Ramachandran, Santhi, Stefancsik, Ray, Stewart, Jonathan, Whetzel, Patricia, Wilson, Robert, Hindorff, Lucia, Cunningham, Fiona, Lambert, Samuel A, Inouye, Michael, Parkinson, Helen, Harris, Laura W
Publicado 2022

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

por Morales, Joannella, Pujar, Shashikant, Loveland, Jane E., Astashyn, Alex, Bennett, Ruth, Berry, Andrew, Cox, Eric, Davidson, Claire, Ermolaeva, Olga, Farrell, Catherine M., Fatima, Reham, Gil, Laurent, Goldfarb, Tamara, Gonzalez, Jose M., Haddad, Diana, Hardy, Matthew, Hunt, Toby, Jackson, John, Joardar, Vinita S., Kay, Michael, Kodali, Vamsi K., McGarvey, Kelly M., McMahon, Aoife, Mudge, Jonathan M., Murphy, Daniel N., Murphy, Michael R., Rajput, Bhanu, Rangwala, Sanjida H., Riddick, Lillian D., Thibaud-Nissen, Françoise, Threadgold, Glen, Vatsan, Anjana R., Wallin, Craig, Webb, David, Flicek, Paul, Birney, Ewan, Pruitt, Kim D., Frankish, Adam, Cunningham, Fiona, Murphy, Terence D.
Publicado 2022

Ensembl 2019

por Cunningham, Fiona, Achuthan, Premanand, Akanni, Wasiu, Allen, James, Amode, M Ridwan, Armean, Irina M, Bennett, Ruth, Bhai, Jyothish, Billis, Konstantinos, Boddu, Sanjay, Cummins, Carla, Davidson, Claire, Dodiya, Kamalkumar Jayantilal, Gall, Astrid, Girón, Carlos García, Gil, Laurent, Grego, Tiago, Haggerty, Leanne, Haskell, Erin, Hourlier, Thibaut, Izuogu, Osagie G, Janacek, Sophie H, Juettemann, Thomas, Kay, Mike, Laird, Matthew R, Lavidas, Ilias, Liu, Zhicheng, Loveland, Jane E, Marugán, José C, Maurel, Thomas, McMahon, Aoife C, Moore, Benjamin, Morales, Joannella, Mudge, Jonathan M, Nuhn, Michael, Ogeh, Denye, Parker, Anne, Parton, Andrew, Patricio, Mateus, Abdul Salam, Ahamed Imran, Schmitt, Bianca M, Schuilenburg, Helen, Sheppard, Dan, Sparrow, Helen, Stapleton, Eloise, Szuba, Marek, Taylor, Kieron, Threadgold, Glen, Thormann, Anja, Vullo, Alessandro, Walts, Brandon, Winterbottom, Andrea, Zadissa, Amonida, Chakiachvili, Marc, Frankish, Adam, Hunt, Sarah E, Kostadima, Myrto, Langridge, Nick, Martin, Fergal J, Muffato, Matthieu, Perry, Emily, Ruffier, Magali, Staines, Daniel M, Trevanion, Stephen J, Aken, Bronwen L, Yates, Andrew D, Zerbino, Daniel R, Flicek, Paul
Publicado 2019

Ensembl 2020

por Yates, Andrew D, Achuthan, Premanand, Akanni, Wasiu, Allen, James, Allen, Jamie, Alvarez-Jarreta, Jorge, Amode, M Ridwan, Armean, Irina M, Azov, Andrey G, Bennett, Ruth, Bhai, Jyothish, Billis, Konstantinos, Boddu, Sanjay, Marugán, José Carlos, Cummins, Carla, Davidson, Claire, Dodiya, Kamalkumar, Fatima, Reham, Gall, Astrid, Giron, Carlos Garcia, Gil, Laurent, Grego, Tiago, Haggerty, Leanne, Haskell, Erin, Hourlier, Thibaut, Izuogu, Osagie G, Janacek, Sophie H, Juettemann, Thomas, Kay, Mike, Lavidas, Ilias, Le, Tuan, Lemos, Diana, Martinez, Jose Gonzalez, Maurel, Thomas, McDowall, Mark, McMahon, Aoife, Mohanan, Shamika, Moore, Benjamin, Nuhn, Michael, Oheh, Denye N, Parker, Anne, Parton, Andrew, Patricio, Mateus, Sakthivel, Manoj Pandian, Abdul Salam, Ahamed Imran, Schmitt, Bianca M, Schuilenburg, Helen, Sheppard, Dan, Sycheva, Mira, Szuba, Marek, Taylor, Kieron, Thormann, Anja, Threadgold, Glen, Vullo, Alessandro, Walts, Brandon, Winterbottom, Andrea, Zadissa, Amonida, Chakiachvili, Marc, Flint, Bethany, Frankish, Adam, Hunt, Sarah E, IIsley, Garth, Kostadima, Myrto, Langridge, Nick, Loveland, Jane E, Martin, Fergal J, Morales, Joannella, Mudge, Jonathan M, Muffato, Matthieu, Perry, Emily, Ruffier, Magali, Trevanion, Stephen J, Cunningham, Fiona, Howe, Kevin L, Zerbino, Daniel R, Flicek, Paul
Publicado 2020

Ensembl 2021

por Howe, Kevin L, Achuthan, Premanand, Allen, James, Allen, Jamie, Alvarez-Jarreta, Jorge, Amode, M Ridwan, Armean, Irina M, Azov, Andrey G, Bennett, Ruth, Bhai, Jyothish, Billis, Konstantinos, Boddu, Sanjay, Charkhchi, Mehrnaz, Cummins, Carla, Da Rin Fioretto, Luca, Davidson, Claire, Dodiya, Kamalkumar, El Houdaigui, Bilal, Fatima, Reham, Gall, Astrid, Garcia Giron, Carlos, Grego, Tiago, Guijarro-Clarke, Cristina, Haggerty, Leanne, Hemrom, Anmol, Hourlier, Thibaut, Izuogu, Osagie G, Juettemann, Thomas, Kaikala, Vinay, Kay, Mike, Lavidas, Ilias, Le, Tuan, Lemos, Diana, Gonzalez Martinez, Jose, Marugán, José Carlos, Maurel, Thomas, McMahon, Aoife C, Mohanan, Shamika, Moore, Benjamin, Muffato, Matthieu, Oheh, Denye N, Paraschas, Dimitrios, Parker, Anne, Parton, Andrew, Prosovetskaia, Irina, Sakthivel, Manoj P, Salam, Ahamed I Abdul, Schmitt, Bianca M, Schuilenburg, Helen, Sheppard, Dan, Steed, Emily, Szpak, Michal, Szuba, Marek, Taylor, Kieron, Thormann, Anja, Threadgold, Glen, Walts, Brandon, Winterbottom, Andrea, Chakiachvili, Marc, Chaubal, Ameya, De Silva, Nishadi, Flint, Bethany, Frankish, Adam, Hunt, Sarah E, IIsley, Garth R, Langridge, Nick, Loveland, Jane E, Martin, Fergal J, Mudge, Jonathan M, Morales, Joanella, Perry, Emily, Ruffier, Magali, Tate, John, Thybert, David, Trevanion, Stephen J, Cunningham, Fiona, Yates, Andrew D, Zerbino, Daniel R, Flicek, Paul
Publicado 2020

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

por Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
Publicado 2018

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

por Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M., Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
Publicado 2018