Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia

por Fiorentino, Alessia, Sharp, Sally I, McQuillin, Andrew
Publicado 2015

Brain Derived Neurotrophic Factor (BDNF) Expression Is Regulated by MicroRNAs miR-26a and miR-26b Allele-Specific Binding

por Caputo, Viviana, Sinibaldi, Lorenzo, Fiorentino, Alessia, Parisi, Chiara, Catalanotto, Caterina, Pasini, Augusto, Cogoni, Carlo, Pizzuti, Antonio
Publicado 2011

Genetic variation in the miR‐708 gene and its binding targets in bipolar disorder

por Fiorentino, Alessia, O'Brien, Niamh Louise, Sharp, Sally Isabel, Curtis, David, Bass, Nicholas James, McQuillin, Andrew
Publicado 2016

Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia

por Al Eissa, Mariam M., Fiorentino, Alessia, Sharp, Sally I., O'Brien, Niamh L., Wolfe, Kate, Giaroli, Giovanni, Curtis, David, Bass, Nicholas J., McQuillin, Andrew
Publicado 2017

Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data

por Fiorentino, Alessia, O'Brien, Niamh Louise, Locke, Devin Paul, McQuillin, Andrew, Jarram, Alexandra, Anjorin, Adebayo, Kandaswamy, Radhika, Curtis, David, Blizard, Robert Alan, Gurling, Hugh Malcolm Douglas
Publicado 2014

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

por Bouzia, Zaina, Georgiou, Michalis, Hull, Sarah, Robson, Anthony G., Fujinami, Kaoru, Rotsos, Tryfon, Pontikos, Nikolas, Arno, Gavin, Webster, Andrew R., Hardcastle, Alison J., Fiorentino, Alessia, Michaelides, Michel
Publicado 2020

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

por Fiorentino, Alessia, Yu, Jing, Arno, Gavin, Pontikos, Nikolas, Halford, Stephanie, Broadgate, Suzanne, Michaelides, Michel, Carss, Keren J., Raymond, F. Lucy, Cheetham, Michael E., Webster, Andrew R., Downes, Susan M., Hardcastle, Alison J.
Publicado 2018

The functional GRM3 Kozak sequence variant rs148754219 affects the risk of schizophrenia and alcohol dependence as well as bipolar disorder

por O’Brien, Niamh L., Way, Michael J., Kandaswamy, Radhika, Fiorentino, Alessia, Sharp, Sally I., Quadri, Giorgia, Alex, Jarram, Anjorin, Adebayo, Ball, David, Cherian, Raquin, Dar, Karim, Gormez, Aynur, Guerrini, Irene, Heydtmann, Mathis, Hillman, Audrey, Lankappa, Sudheer, Lydall, Greg, O’Kane, Aideen, Patel, Shamir, Quested, Digby, Smith, Iain, Thomson, Allan D., Bass, Nicholas J., Morgan, Marsha Y., Curtis, David, McQuillin, Andrew
Publicado 2014

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

por Arno, Gavin, Agrawal, Smriti A., Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A., Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J., Fiorentino, Alessia, Hayes, Matthew J., Munro, Peter M., Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E., Asomugha, Chinwe, Raymond, F. Lucy, Moore, Anthony T., Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Li, Yumei, Cukras, Catherine, Webster, Andrew R., Cheetham, Michael E., Chen, Rui
Publicado 2016

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

por de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E.L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa M., Cremers, Frans P.M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.
Publicado 2020

Characterisation of age and polarity at onset in bipolar disorder

por Kalman, Janos L., Olde Loohuis, Loes M., Vreeker, Annabel, McQuillin, Andrew, Stahl, Eli A., Ruderfer, Douglas, Grigoroiu-Serbanescu, Maria, Panagiotaropoulou, Georgia, Ripke, Stephan, Bigdeli, Tim B., Stein, Frederike, Meller, Tina, Meinert, Susanne, Pelin, Helena, Streit, Fabian, Papiol, Sergi, Adams, Mark J., Adolfsson, Rolf, Adorjan, Kristina, Agartz, Ingrid, Aminoff, Sofie R., Anderson-Schmidt, Heike, Andreassen, Ole A., Ardau, Raffaella, Aubry, Jean-Michel, Balaban, Ceylan, Bass, Nicholas, Baune, Bernhard T., Bellivier, Frank, Benabarre, Antoni, Bengesser, Susanne, Berrettini, Wade H, Boks, Marco P., Bromet, Evelyn J., Brosch, Katharina, Budde, Monika, Byerley, William, Cervantes, Pablo, Chillotti, Catina, Cichon, Sven, Clark, Scott R., Comes, Ashley L., Corvin, Aiden, Coryell, William, Craddock, Nick, Craig, David W., Croarkin, Paul E., Cruceanu, Cristiana, Czerski, Piotr M., Dalkner, Nina, Dannlowski, Udo, Degenhardt, Franziska, Del Zompo, Maria, DePaulo, J. Raymond, Djurovic, Srdjan, Edenberg, Howard J., Eissa, Mariam Al, Elvsåshagen, Torbjørn, Etain, Bruno, Fanous, Ayman H., Fellendorf, Frederike, Fiorentino, Alessia, Forstner, Andreas J., Frye, Mark A., Fullerton, Janice M., Gade, Katrin, Garnham, Julie, Gershon, Elliot, Gill, Michael, Goes, Fernando S., Gordon-Smith, Katherine, Grof, Paul, Guzman-Parra, Jose, Hahn, Tim, Hasler, Roland, Heilbronner, Maria, Heilbronner, Urs, Jamain, Stephane, Jimenez, Esther, Jones, Ian, Jones, Lisa, Jonsson, Lina, Kahn, Rene S., Kelsoe, John R., Kennedy, James L., Kircher, Tilo, Kirov, George, Kittel-Schneider, Sarah, Klöhn-Saghatolislam, Farah, Knowles, James A., Kranz, Thorsten M., Lagerberg, Trine Vik, Landen, Mikael, Lawson, William B., Leboyer, Marion, Li, Qingqin S., Maj, Mario, Malaspina, Dolores, Manchia, Mirko, Mayoral, Fermin, McElroy, Susan L., McInnis, Melvin G., McIntosh, Andrew M., Medeiros, Helena, Melle, Ingrid, Milanova, Vihra, Mitchell, Philip B., Monteleone, Palmiero, Monteleone, Alessio Maria, Nöthen, Markus M., Novak, Tomas, Nurnberger, John I., O'Brien, Niamh, O'Connell, Kevin S., O'Donovan, Claire, O'Donovan, Michael C., Opel, Nils, Ortiz, Abigail, Owen, Michael J., Pålsson, Erik, Pato, Carlos, Pato, Michele T., Pawlak, Joanna, Pfarr, Julia-Katharina, Pisanu, Claudia, Potash, James B., Rapaport, Mark H, Reich-Erkelenz, Daniela, Reif, Andreas, Reininghaus, Eva, Repple, Jonathan, Richard-Lepouriel, Hélène, Rietschel, Marcella, Ringwald, Kai, Roberts, Gloria, Rouleau, Guy, Schaupp, Sabrina, Scheftner, William A, Schmitt, Simon, Schofield, Peter R., Schubert, K. Oliver, Schulte, Eva C., Schweizer, Barbara, Senner, Fanny, Severino, Giovanni, Sharp, Sally, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Squassina, Alessio, Stopkova, Pavla, Strauss, John, Tortorella, Alfonso, Turecki, Gustavo, Twarowska-Hauser, Joanna, Veldic, Marin, Vieta, Eduard, Vincent, John B., Xu, Wei, Zai, Clement C., Zandi, Peter P., Di Florio, Arianna, Smoller, Jordan W., Biernacka, Joanna M., McMahon, Francis J., Alda, Martin, Müller-Myhsok, Bertram, Koutsouleris, Nikolaos, Falkai, Peter, Freimer, Nelson B., Andlauer, Till F.M., Schulze, Thomas G., Ophoff, Roel A.
Publicado 2021

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

por Mullins, Niamh, Forstner, Andreas J., O’Connell, Kevin S., Coombes, Brandon, Coleman, Jonathan R. I., Qiao, Zhen, Als, Thomas D., Bigdeli, Tim B., Børte, Sigrid, Bryois, Julien, Charney, Alexander W., Drange, Ole Kristian, Gandal, Michael J., Hagenaars, Saskia P., Ikeda, Masashi, Kamitaki, Nolan, Kim, Minsoo, Krebs, Kristi, Panagiotaropoulou, Georgia, Schilder, Brian M., Sloofman, Laura G., Steinberg, Stacy, Trubetskoy, Vassily, Winsvold, Bendik S., Won, Hong-Hee, Abramova, Liliya, Adorjan, Kristina, Agerbo, Esben, Al Eissa, Mariam, Albani, Diego, Alliey-Rodriguez, Ney, Anjorin, Adebayo, Antilla, Verneri, Antoniou, Anastasia, Awasthi, Swapnil, Baek, Ji Hyun, Bækvad-Hansen, Marie, Bass, Nicholas, Bauer, Michael, Beins, Eva C., Bergen, Sarah E., Birner, Armin, Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco P., Bosch, Rosa, Brum, Murielle, Brumpton, Ben M., Brunkhorst-Kanaan, Nathalie, Budde, Monika, Bybjerg-Grauholm, Jonas, Byerley, William, Cairns, Murray, Casas, Miquel, Cervantes, Pablo, Clarke, Toni-Kim, Cruceanu, Cristiana, Cuellar-Barboza, Alfredo, Cunningham, Julie, Curtis, David, Czerski, Piotr M., Dale, Anders M., Dalkner, Nina, David, Friederike S., Degenhardt, Franziska, Djurovic, Srdjan, Dobbyn, Amanda L., Douzenis, Athanassios, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Ferrier, I. Nicol, Fiorentino, Alessia, Foroud, Tatiana M., Forty, Liz, Frank, Josef, Frei, Oleksandr, Freimer, Nelson B., Frisén, Louise, Gade, Katrin, Garnham, Julie, Gelernter, Joel, Pedersen, Marianne Giørtz, Gizer, Ian R., Gordon, Scott D., Gordon-Smith, Katherine, Greenwood, Tiffany A., Grove, Jakob, Guzman-Parra, José, Ha, Kyooseob, Haraldsson, Magnus, Hautzinger, Martin, Heilbronner, Urs, Hellgren, Dennis, Herms, Stefan, Hoffmann, Per, Holmans, Peter A., Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S., Kalman, Janos L., Kamatani, Yoichiro, Kennedy, James L., Kittel-Schneider, Sarah, Knowles, James A., Kogevinas, Manolis, Koromina, Maria, Kranz, Thorsten M., Kranzler, Henry R., Kubo, Michiaki, Kupka, Ralph, Kushner, Steven A., Lavebratt, Catharina, Lawrence, Jacob, Leber, Markus, Lee, Heon-Jeong, Lee, Phil H., Levy, Shawn E., Lewis, Catrin, Liao, Calwing, Lucae, Susanne, Lundberg, Martin, MacIntyre, Donald J., Magnusson, Sigurdur H., Maier, Wolfgang, Maihofer, Adam, Malaspina, Dolores, Maratou, Eirini, Martinsson, Lina, Mattheisen, Manuel, McCarroll, Steven A., McGregor, Nathaniel W., McGuffin, Peter, McKay, James D., Medeiros, Helena, Medland, Sarah E., Millischer, Vincent, Montgomery, Grant W., Moran, Jennifer L., Morris, Derek W., Mühleisen, Thomas W., O’Brien, Niamh, O’Donovan, Claire, Olde Loohuis, Loes M., Oruc, Lilijana, Papiol, Sergi, Pardiñas, Antonio F., Perry, Amy, Pfennig, Andrea, Porichi, Evgenia, Potash, James B., Quested, Digby, Raj, Towfique, Rapaport, Mark H., DePaulo, J. Raymond, Regeer, Eline J., Rice, John P., Rivas, Fabio, Rivera, Margarita, Roth, Julian, Roussos, Panos, Ruderfer, Douglas M., Sánchez-Mora, Cristina, Schulte, Eva C., Senner, Fanny, Sharp, Sally, Shilling, Paul D., Sigurdsson, Engilbert, Sirignano, Lea, Slaney, Claire, Smeland, Olav B., Smith, Daniel J., Sobell, Janet L., Hansen, Christine Søholm, Artigas, Maria Soler, Spijker, Anne T., Stein, Dan J., Strauss, John S., Świątkowska, Beata, Terao, Chikashi, Thorgeirsson, Thorgeir E., Toma, Claudio, Tooney, Paul, Tsermpini, Evangelia-Eirini, Vawter, Marquis P., Vedder, Helmut, Walters, James T. R., Witt, Stephanie H., Xi, Simon, Xu, Wei, Yang, Jessica Mei Kay, Young, Allan H., Young, Hannah, Zandi, Peter P., Zhou, Hang, Zillich, Lea, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Alfredsson, Lars, Babadjanova, Gulja, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Bengesser, Susanne, Berrettini, Wade H., Blackwood, Douglas H. R., Boehnke, Michael, Børglum, Anders D., Breen, Gerome, Carr, Vaughan J., Catts, Stanley, Corvin, Aiden, Craddock, Nicholas, Dannlowski, Udo, Dikeos, Dimitris, Esko, Tõnu, Etain, Bruno, Ferentinos, Panagiotis, Frye, Mark, Fullerton, Janice M., Gawlik, Micha, Gershon, Elliot S., Goes, Fernando S., Green, Melissa J., Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Henskens, Frans, Hillert, Jan, Hong, Kyung Sue, Hougaard, David M., Hultman, Christina M., Hveem, Kristian, Iwata, Nakao, Jablensky, Assen V., Jones, Ian, Jones, Lisa A., Kahn, René S., Kelsoe, John R., Kirov, George, Landén, Mikael, Leboyer, Marion, Lewis, Cathryn M., Li, Qingqin S., Lissowska, Jolanta, Lochner, Christine, Loughland, Carmel, Martin, Nicholas G., Mathews, Carol A., Mayoral, Fermin, McElroy, Susan L., McIntosh, Andrew M., McMahon, Francis J., Melle, Ingrid, Michie, Patricia, Milani, Lili, Mitchell, Philip B., Morken, Gunnar, Mors, Ole, Mortensen, Preben Bo, Mowry, Bryan, Müller-Myhsok, Bertram, Myers, Richard M., Neale, Benjamin M., Nievergelt, Caroline M., Nordentoft, Merete, Nöthen, Markus M., O’Donovan, Michael C., Oedegaard, Ketil J., Olsson, Tomas, Owen, Michael J., Paciga, Sara A., Pantelis, Chris, Pato, Carlos, Pato, Michele T., Patrinos, George P., Perlis, Roy H., Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Reininghaus, Eva Z., Ribasés, Marta, Rietschel, Marcella, Ripke, Stephan, Rouleau, Guy A., Saito, Takeo, Schall, Ulrich, Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Scott, Laura J., Scott, Rodney J., Serretti, Alessandro, Weickert, Cynthia Shannon, Smoller, Jordan W., Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Streit, Fabian, Sullivan, Patrick F., Turecki, Gustavo, Vaaler, Arne E., Vieta, Eduard, Vincent, John B., Waldman, Irwin D., Weickert, Thomas W., Werge, Thomas, Wray, Naomi R., Zwart, John-Anker, Biernacka, Joanna M., Nurnberger, John I., Cichon, Sven, Edenberg, Howard J., Stahl, Eli A., McQuillin, Andrew, Di Florio, Arianna, Ophoff, Roel A., Andreassen, Ole A.
Publicado 2021