A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

Autor: Ades, Lesley, Enriquez, Annabel, McLean, Alison, Smyth, Renee, Alankarage, Dimithu, Fatkin, Diane, McNamara, James, Soka, Magdalena, Morgan almog, Fear, Vanessa, Medi, Caroline, Stark, Zornitza, Al-Shinnag, Mohammad, Fine, Miriam, Metke, Alejandro, Sy, Raymond, Atherton, John J., Finlay, Keri, Milnes, Di, Tang, Dotti, Austin, Rachel, Garza, Denisse, Milward, Michael, Taylor, Jessica, Bagnall, Richard D., Giannoulatou, Eleni, Morrish, Ansley, Taylor, Shelby, Barnett, Chris, Gongolidis, Laura, Morwood, Jim, Tchan, Michel, Blue, Gillian M., Gray, Belinda, Mountain, Helen, Thompson, Tina, Bodek, Simon, Greer, Cassie, Mowat, David, Thorpe, Jordan, Boggs, Kirsten, Haan, Eric, Ng, Chai-Ann, Trainer, Alison, Bogwitz, Michael, Haas, Mathilda, Nowak, Natalie, Trivedi, Gunjan, Boughtwood, Tiffany, Hanna, Bernadette, Martinez, Noelia Nunez, Valente, Giulia, Bray, Alessandra, Harvey, Richard, Ohanian, Monique, van Spaendonck-Zwarts, Karin, Brion, Marie-Jo, Hayward, Janette, O’Sullivan, Sinead, Vandenberg, Jamie, Brown, Jaye, Herrera, Carmen, Overkov, Angela, Verma, Kunal, Richardson, Rob Bryson, Hill, Adam, Pachter, Nicholas, Vidgen, Miranda, Burnett, Leslie, Hollingsworth, Georgie, Patel, Chirag, Vohra, Jitendra, Burns, Charlotte, Hollway, Georgina, Perrin, Mark, Waddel-Smith, Kathryn, Cao, Michelle, Horton, Ari E., Perry, Matthew, Wallis, Mathew, Carr, Will, Howting, Denise, Pflaumer, Andreas, Weintraub, Robert G., Casauria, Sarah, Ingles, Jodie, Phillips, Peta, Wilson, Meredith, Chalinor, Heather, Isbister, Joanne, Phuong, Thuan, Winlaw, David, Chang, Yuchen, Jackson, Matilda, Pope-Couston, Rachel, Worgan, Lisa, Chapman, Gavin, James, Paul, Poplawski, Nicola K., Wornham, Linda, Charitou, Theosodia, Jane-Pantaleo, Sarah, Punni, Preeti, Wu, Kathy, Chong, Belinda, Johnson, Renee, Quinn, Michael C.J., Yeates, Laura, Collins, Felicity, Kelly, Andrew, Quinn, Michael, Zentner, Dominica, Correnti, Gemma, King-Smith, Sarah, Rajagopalan, Sulekha, Cox, Kathy, Kirk, Edwin, Raju, Hariharan, Cunningham, Fiona, Kummerfeld, Sarah, Rath, Emma M., Das, Debjani, Lassman, Timo, Regan, Matthew, Davis, Jason, Lipton, Jonathon, Rogers, Jonathan, Davis, Andrew, Lunke, Sebastian, Ryan, Mark, De Fazio, Paul, Macciocca, Ivan, Sandaradura, Sarah, de Silva, Michelle, MacIntyre, Paul, Schonrock, Nicole, Den Elzen, Nicola, Madelli, Evanthia O., Scuffham, Paul, Devery, Sophie, Mallawaarachchi, Amali, Semsarian, Chris, Dobbins, Julia, Mansour, Julia, Sherburn, Isabella, Dunwoodie, Sally L., Martin, Ellenore, Sherlock, Mary-Clare, Dwyer, Nathan, Mathew, Jacob, Singer, Emma, Elbracht-Leong, Stefanie, Mattiske, Tessa, Smerdon, Carla, Elliott, David, McGaughran, Julie, Smith, Janine, Brown, Jaye S., Haas, Matilda, Pantaleo, Sarah-Jane

Publikováno v: In Genetics in Medicine Open 2024 2

Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

Autor: Ferrari, Raffaele, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Ramasamy, Adaikalavan, Kwok, John B.J., Dobson-Stone, Carol, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Haan, Eric, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J., Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R.A., Hsiung, Ging-Yuek R., Mann, David M.A., Grafman, Jordan, Morris, Christopher M., Attems, Johannes, Griffiths, Timothy D., McKeith, Ian G., Thomas, Alan J., Pietrini, P., Huey, Edward D., Wassermann, Eric M., Baborie, Atik, Jaros, Evelyn, Tierney, Michael C., Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B., Schlachetzki, Johannes C.M., Uphill, James, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M., Grossman, Murray, Trojanowski, John Q., van der Zee, Julie, Deschamps, William, Van Langenhove, Tim, Cruts, Marc, Van Broeckhoven, Christine, Cappa, Stefano F., Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E., Hjermind, Lena E., Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Spillantini, Maria Grazia, Morris, Huw R., Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S., Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C., Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Knopman, David, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Rosen, Howard, van Swieten, John C., Dopper, Elise G.P., Seelaar, Harro, Pijnenburg, Yolande A.L., Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A., Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebert, Florence, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B., Hardy, John, Momeni, Parastoo, Ge, Yi-Jun, Ou, Ya-Nan, Deng, Yue-Ting, Wu, Bang-Sheng, Yang, Liu, Zhang, Ya-Ru, Chen, Shi-Dong, Huang, Yu-Yuan, Dong, Qiang, Tan, Lan, Yu, Jin-Tai

Publikováno v: In Biological Psychiatry 1 May 2023 93(9):770-779

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Frontotemporal dementia and its subtypes: a genome-wide association study

Autor: Ferrari, Raffaele, Hernandez, Dena G, Nalls, Michael A, Rohrer, Jonathan D, Ramasamy, Adaikalavan, Kwok, John B J, Dobson-Stone, Carol, Brooks, William S, Schofield, Peter R, Halliday, Glenda M, Hodges, John R, Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Haan, Eric, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R A, Hsiung, Ging-Yuek R, Mann, David M A, Grafman, Jordan, Morris, Christopher M, Attems, Johannes, Griffiths, Timothy D, McKeith, Ian G, Thomas, Alan J, Pietrini, P, Huey, Edward D, Wassermann, Eric M, Baborie, Atik, Jaros, Evelyn, Tierney, Michael C, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, St George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B, Schlachetzki, Johannes C M, Uphill, James, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M, Grossman, Murray, Trojanowski, John Q, van der Zee, Julie, Deschamps, William, Van Langenhove, Tim, Cruts, Marc, Van Broeckhoven, Christine, Cappa, Stefano F, Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E, Hjermind, Lena E, Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N, Fox, Nick C, Warren, Jason D, Spillantini, Maria Grazia, Morris, Huw R, Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S, Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C, Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W, Graff-Radford, Neill R, Petersen, Ronald C, Knopman, David, Josephs, Keith A, Boeve, Bradley F, Parisi, Joseph E, Seeley, William W, Miller, Bruce L, Karydas, Anna M, Rosen, Howard, van Swieten, John C, Dopper, Elise G P, Seelaar, Harro, Pijnenburg, Yolande A L, Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A, Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebert, Florence, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B, Hardy, John, Momeni, Parastoo

Publikováno v: In Lancet Neurology July 2014 13(7):686-699

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy

Autor: McMichael, Gai, Haan, Eric, Gardner, Alison, Yap, Tzu Ying, Thompson, Suzanna, Ouvrier, Robert, Dale, Russell C., Gecz, Jozef, MacLennan, Alastair H.

Publikováno v: In European Journal of Medical Genetics September 2013 56(9):506-509