Renal Trauma from Recreational Accidents Manifests Different Injury Patterns than Urban Renal Trauma

Autor Lloyd, Granville L., Slack, Sean, McWilliams, Kelly L., Black, Aaron, Nicholson, Tristan M.
Vydáno 2012

Implementation of Informatics to Support the NIH All of Us Research Program in a Healthcare Provider Organization

Autor Turner, Scott P., Pompea, Sean T., Williams, Kelly L., Kraemer, David A., Sholle, Evan T., Chen, Cindy, Cole, Curtis L., Kaushal, Rainu, Campion, Thomas R.
Vydáno v AMIA Jt Summits Transl Sci Proc (2019)

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

Autor Henden, Lyndal, Twine, Natalie A., Szul, Piotr, McCann, Emily P., Nicholson, Garth A., Rowe, Dominic B., Kiernan, Matthew C., Bauer, Denis C., Blair, Ian P., Williams, Kelly L.
Vydáno v NPJ Genom Med (2020)

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis

Autor Fifita, Jennifer A., Chan Moi Fat, Sandrine, McCann, Emily P., Williams, Kelly L., Twine, Natalie A., Bauer, Denis C., Rowe, Dominic B., Pamphlett, Roger, Kiernan, Matthew C., Tan, Vanessa X., Blair, Ian P., Guillemin, Gilles J.
Vydáno v Front Immunol (2021)

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression

Autor Tarr, Ingrid S., McCann, Emily P., Benyamin, Beben, Peters, Timothy J., Twine, Natalie A., Zhang, Katharine Y., Zhao, Qiongyi, Zhang, Zong-Hong, Rowe, Dominic B., Nicholson, Garth A., Bauer, Denis, Clark, Susan J., Blair, Ian P., Williams, Kelly L.
Vydáno v Sci Rep (2019)

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Autor Sreedharan, Jemeen, Blair, Ian P., Tripathi, Vineeta B., Hu, Xun, Vance, Caroline, Rogelj, Boris, Ackerley, Steven, Durnall, Jennifer C., Williams, Kelly L., Buratti, Emanuele, Baralle, Francisco, de Belleroche, Jacqueline, Mitchell, J. Douglas, Leigh, P. Nigel, Al-Chalabi, Ammar, Miller, Christopher C., Nicholson, Garth, Shaw, Christopher E.
Vydáno v Science (2008)

Exome sequencing to identify de novo mutations in sporadic ALS trios

Autor Chesi, Alessandra, Staahl, Brett T., Jovicic, Ana, Couthouis, Julien, Fasolino, Maria, Raphael, Alya R., Yamazaki, Tomohiro, Elias, Laura, Polak, Meraida, Kelly, Crystal, Williams, Kelly L., Fifita, Jennifer A., Maragakis, Nicholas J., Nicholson, Garth A., King, Oliver D., Reed, Robin, Crabtree, Gerald R., Blair, Ian P., Glass, Jonathan D., Gitler, Aaron D.
Vydáno 2013

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

Autor de Brouwer, Arjan P. M. , Williams, Kelly L. , Duley, John A. , van Kuilenburg, André B. P. , Nabuurs, Sander B. , Egmont-Petersen, Michael , Lugtenberg, Dorien , Zoetekouw, Lida , Banning, Martijn J. G. , Roeffen, Melissa , Hamel, Ben C. J. , Weaving, Linda , Ouvrier, Robert A. , Donald, Jennifer A. , Wevers, Ron A. , Christodoulou, John , van Bokhoven, Hans 
Vydáno 2007

Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF((cyclin F)) complex

Autor Lee, Albert, Rayner, Stephanie L., De Luca, Alana, Gwee, Serene S. L., Morsch, Marco, Sundaramoorthy, Vinod, Shahheydari, Hamideh, Ragagnin, Audrey, Shi, Bingyang, Yang, Shu, Williams, Kelly L., Don, Emily K., Walker, Adam K., Zhang, Katharine Y., Yerbury, Justin J., Cole, Nicholas J., Atkin, Julie D., Blair, Ian P., Molloy, Mark P., Chung, Roger S.
Vydáno v Open Biol (2017)

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Autor Thomas-Jinu, Swapna, Gordon, Patricia M., Fielding, Triona, Taylor, Richard, Smith, Bradley N., Snowden, Victoria, Blanc, Eric, Vance, Caroline, Topp, Simon, Wong, Chun-Hao, Bielen, Holger, Williams, Kelly L., McCann, Emily P., Nicholson, Garth A., Pan-Vazquez, Alejandro, Fox, Archa H., Bond, Charles S., Talbot, William S., Blair, Ian P., Shaw, Christopher E., Houart, Corinne
Vydáno v Neuron (2017)

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Autor Thomas-Jinu, Swapna, Gordon, Patricia M., Fielding, Triona, Taylor, Richard, Smith, Bradley N., Snowden, Victoria, Blanc, Eric, Vance, Caroline, Topp, Simon, Wong, Chun-Hao, Bielen, Holger, Williams, Kelly L., McCann, Emily P., Nicholson, Garth A., Pan-Vazquez, Alejandro, Fox, Archa H., Bond, Charles S., Talbot, William S., Blair, Ian P., Shaw, Christopher E., Houart, Corinne
Vydáno v Neuron (2017)

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Autor Vance, Caroline, Rogelj, Boris, Hortobágyi, Tibor, De Vos, Kurt J., Nishimura, Agnes Lumi, Sreedharan, Jemeen, Hu, Xun, Smith, Bradley, Ruddy, Deborah, Wright, Paul, Ganesalingam, Jeban, Williams, Kelly L., Tripathi, Vineeta, Al-Saraj, Safa, Al-Chalabi, Ammar, Leigh, P. Nigel, Blair, Ian P., Nicholson, Garth, de Belleroche, Jackie, Gallo, Jean-Marc, Miller, Christopher C., Shaw, Christopher E.
Vydáno v Science (2009)

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

Autor Couthouis, Julien, Hart, Michael P., Erion, Renske, King, Oliver D., Diaz, Zamia, Nakaya, Tadashi, Ibrahim, Fadia, Kim, Hyung-Jun, Mojsilovic-Petrovic, Jelena, Panossian, Saarene, Kim, Cecilia E., Frackelton, Edward C., Solski, Jennifer A., Williams, Kelly L., Clay-Falcone, Dana, Elman, Lauren, McCluskey, Leo, Greene, Robert, Hakonarson, Hakon, Kalb, Robert G., Lee, Virginia M.Y., Trojanowski, John Q., Nicholson, Garth A., Blair, Ian P., Bonini, Nancy M., Van Deerlin, Vivianna M., Mourelatos, Zissimos, Shorter, James, Gitler, Aaron D.
Vydáno 2012

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics

Autor Iacoangeli, Alfredo, Lin, Tian, Al Khleifat, Ahmad, Jones, Ashley R., Opie-Martin, Sarah, Coleman, Jonathan R.I., Shatunov, Aleksey, Sproviero, William, Williams, Kelly L., Garton, Fleur, Restuadi, Restuadi, Henders, Anjali K., Mather, Karen A., Needham, Merilee, Mathers, Susan, Nicholson, Garth A., Rowe, Dominic B., Henderson, Robert, McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Schultz, David, Sachdev, Perminder S., Newhouse, Stephen J., Proitsi, Petroula, Fogh, Isabella, Ngo, Shyuan T., Dobson, Richard J.B., Wray, Naomi R., Steyn, Frederik J., Al-Chalabi, Ammar
Vydáno v Cell Rep (2020)

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Autor Takahashi, Yuji, Fukuda, Yoko, Yoshimura, Jun, Toyoda, Atsushi, Kurppa, Kari, Moritoyo, Hiroyoko, Belzil, Veronique V., Dion, Patrick A., Higasa, Koichiro, Doi, Koichiro, Ishiura, Hiroyuki, Mitsui, Jun, Date, Hidetoshi, Ahsan, Budrul, Matsukawa, Takashi, Ichikawa, Yaeko, Moritoyo, Takashi, Ikoma, Mayumi, Hashimoto, Tsukasa, Kimura, Fumiharu, Murayama, Shigeo, Onodera, Osamu, Nishizawa, Masatoyo, Yoshida, Mari, Atsuta, Naoki, Sobue, Gen, Fifita, Jennifer A., Williams, Kelly L., Blair, Ian P., Nicholson, Garth A., Gonzalez-Perez, Paloma, Brown, Robert H., Nomoto, Masahiro, Elenius, Klaus, Rouleau, Guy A., Fujiyama, Asao, Morishita, Shinichi, Goto, Jun, Tsuji, Shoji
Vydáno 2013

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Autor Nabais, Marta F., Lin, Tian, Benyamin, Beben, Williams, Kelly L., Garton, Fleur C., Vinkhuyzen, Anna A. E., Zhang, Futao, Vallerga, Costanza L., Restuadi, Restuadi, Freydenzon, Anna, Zwamborn, Ramona A. J., Hop, Paul J., Robinson, Matthew R., Gratten, Jacob, Visscher, Peter M., Hannon, Eilis, Mill, Jonathan, Brown, Matthew A., Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Needham, Merrilee, Veldink, Jan H., Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Yang, Jian, Blair, Ian P., McRae, Allan F., Wray, Naomi R.
Vydáno v NPJ Genom Med (2020)

CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

Autor Dobson-Stone, Carol, Hallupp, Marianne, Shahheydari, Hamideh, Ragagnin, Audrey M G, Chatterton, Zac, Carew-Jones, Francine, Shepherd, Claire E, Stefen, Holly, Paric, Esmeralda, Fath, Thomas, Thompson, Elizabeth M, Blumbergs, Peter, Short, Cathy L, Field, Colin D, Panegyres, Peter K, Hecker, Jane, Nicholson, Garth, Shaw, Alex D, Fullerton, Janice M, Luty, Agnes A, Schofield, Peter R, Brooks, William S, Rajan, Neil, Bennett, Mark F, Bahlo, Melanie, Shankaracharya, Landers, John E, Piguet, Olivier, Hodges, John R, Halliday, Glenda M, Topp, Simon D, Smith, Bradley N, Shaw, Christopher E, McCann, Emily, Fifita, Jennifer A, Williams, Kelly L, Atkin, Julie D, Blair, Ian P, Kwok, John B
Vydáno v Brain (2020)

A yeast functional screen predicts new candidate ALS disease genes

Autor Couthouis, Julien, Hart, Michael P., Shorter, James, DeJesus-Hernandez, Mariely, Erion, Renske, Oristano, Rachel, Liu, Annie X., Ramos, Daniel, Jethava, Niti, Hosangadi, Divya, Epstein, James, Chiang, Ashley, Diaz, Zamia, Nakaya, Tadashi, Ibrahim, Fadia, Kim, Hyung-Jun, Solski, Jennifer A., Williams, Kelly L., Mojsilovic-Petrovic, Jelena, Ingre, Caroline, Boylan, Kevin, Graff-Radford, Neill R., Dickson, Dennis W., Clay-Falcone, Dana, Elman, Lauren, McCluskey, Leo, Greene, Robert, Kalb, Robert G., Lee, Virginia M.-Y., Trojanowski, John Q., Ludolph, Albert, Robberecht, Wim, Andersen, Peter M., Nicholson, Garth A., Blair, Ian P., King, Oliver D., Bonini, Nancy M., Van Deerlin, Vivianna, Rademakers, Rosa, Mourelatos, Zissimos, Gitler, Aaron D.
Vydáno 2011

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

Autor Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P., Mowry, Bryan J., Ngo, Shyuan T., Pamphlett, Roger, Ran, Shu, Reutens, David C., Rowe, Dominic B., Sachdev, Perminder, Shah, Sonia, Song, Sharon, Tan, Li-Jun, Tang, Lu, van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Wallace, Robyn H., Wheeler, Lawrie, Williams, Kelly L., Wu, Jinyu, Wu, Xin, Yang, Jian, Yue, Weihua, Zhang, Zong-Hong, Zhang, Dai, Noakes, Peter G., Blair, Ian P., Henderson, Robert D., McCombe, Pamela A., Visscher, Peter M., Xu, Huji, Bartlett, Perry F., Brown, Matthew A., Wray, Naomi R., Fan, Dongsheng
Vydáno v Nat Commun (2017)

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

Autor Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, oz-Blanco, José Luis Muñ, Simpson, Michael, Consortium, SLAGEN, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E.
Vydáno v Neuron (2014)