Effects of Tissue Handling on RNA Integrity and Microarray Measurements From Resected Breast Cancers by Hatzis, Christos, Sun, Hongxia, Yao, Hui, Hubbard, Rebekah E., Meric-Bernstam, Funda, Babiera, Gildy V., Wu, Yun, Pusztai, Lajos, Symmans, W. Fraser

Get full text

First generation prognostic gene signatures for breast cancer predict both survival and chemotherapy sensitivity and identify overlapping patient populations by Iwamoto, Takayuki, Lee, Ju-Seog, Bianchini, Giampaolo, Hubbard, Rebekah E., Young, Elliana, Matsuoka, Junji, Kim, Sang Bae, Symmans, W. Fraser, Hortobagyi, Gabriel N., Pusztai, Lajos

Get full text

PIK3CA-activating mutations and chemotherapy sensitivity in stage II-III breast cancer by Liedtke, Cornelia, Cardone, Luca, Tordai, Attila, Yan, Kai, Gomez, Henry L, Figureoa, Luis J Barajas, Hubbard, Rebekah E, Valero, Vicente, Souchon, Eduardo A, Symmans, W Fraser, Hortobagyi, Gabriel N, Bardelli, Alberto, Pusztai, Lajos

Get full text

Development and piloting of 'When Cancer Comes Along': A cancer awareness program for Australian secondary school students by Wright, Adam J., Patterson, Pandora, McDonald, Fiona E. J., Hubbard, Gill, Patrick, Rebecca

Get full text

An integrated encyclopedia of DNA elements in the human genome by Kundaje, Anshul, Collins, Patrick J, Davis, Carrie A, Khatun, Jainab, Lajoie, Bryan R, Landt, Stephen G, Safi, Alexias, Altshuler, Robert C, Cheng, Chao, Greven, Melissa, Hoffman, Michael M, Lassmann, Timo, Thurman, Robert E, Wu, Weisheng, Xi, Hualin S, Zhuang, Jiali, Gunter, Chris, Dekker, Job, Elnitski, Laura, Giddings, Morgan C, Margulies, Elliott H, Stamatoyannopoulos, John A, Wold, Barbara, Kuiper, Heather C, Dobin, Alex, Tanzer, Andrea, Xue, Chenghai, Zaleski, Chris, Roder, Maik, Baer, Michael T, Bell, Kimberly, Gordon, Assaf, Howald, Cedric, Johnson, Rory, Kingswood, Colin, Li, Guoliang, Luo, Oscar J, Robyr, Daniel, Ruan, Xiaoan, Skancke, Jorgen, Suzuki, Ana Maria, Takahashi, Hazuki, Tilgner, Hagen, Wang, Huaien, Hayashizaki, Yoshihide, Hannon, Gregory J, Malladi, Venkat S, Dreszer, Timothy R, Showers, Kimberly A, London, Darin, Zhang, Zhancheng, Keefe, Damian, Zheng, Meizhen, Vielmetter, Jost, Jain, Preti, Pusey, Barbara, Meadows, Sarah K, Absher, Devin M, Pennachio, Len A, Abyzov, Alexej, Barrell, Daniel, Bignell, Alexandra, Diekhans, Mark, Ezkurdia, Iakes, Frankish, Adam, Hunt, Toby, Jungreis, Irwin, Loveland, Jane, Manthravadi, Deepa, Pei, Baikang, Snow, Catherine, Zhang, Zhengdong, Alexander, Roger P, Balasubramanian, Suganthi, Bettinger, Keith, Cayting, Philip, Habegger, Lukas, Lamarre-Vincent, Nathan, Lindahl-Allen, Marianne, Monahan, Hannah, Patacsil, Dorrelyn, Struhl, Kevin, Ma, Lijia, Inoue, Daigo, Kellner, Tanja, Kirchmaier, Stephan, Bates, Daniel L, Canfield, Theresa K, Boatman, Lisa, Neph, Shane J, Roach, Vaughn, Sanchez, Minerva E, Shafer, Anthony O, Vernot, Benjamin, Weaver, Molly A, Akey, Joshua M, Bender, Michael, Navas, Patrick, Hussami, Nadine, Schaub, Marc A

Get full text

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

Get full text

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration by Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Pochiero, Francesca, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Lopez, Javier F., Maleady-Crowe, Fiona, Minneci, Federico, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Rahim, Tahrima, Rendon, Augusto, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Ratto, Gian Michele, Guerrini, Renzo

Get full text

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis by Dewan, Ramita, Keagle, Pamela, Bacikova, Dagmar, Soltis, Anthony R., Kost, Jason, Colombrita, Claudia, Lewis, Elizabeth A., Pensato, Viviana, Castellotti, Barbara, McLaughlin, Russell L., Comi, Giacomo P., Ceroni, Mauro, Gagliardi, Stella, van Blitterswijk, Marka, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Morrison, Karen E., Veldink, Jan H., Brown, Robert H., Ambrose, John C., Brittain, H., Elgar, Greg, Halai, Dina, Holman, James E., Jackson, Rob, Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Riesgo-Ferreiro, Pablo, Rogers, Tim, Watters, Sarah A., Arepalli, Sampath, Chiò, Adriano, Dunckley, Travis L., Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Gerhard, Glenn, Jansson, Lilja, Kirby, Janine, Mora, Gabriele, Nalls, Mike A., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Robey, Ian, Dols-Icardo, Oriol, Illán-Gala, Ignacio, Lleó, Alberto, Khoshnood, Behzad, Sorbi, Sandro, Pastor, Pau, Bigio, Eileen H., Black, Sandra E., Brunetti, Maura, Canosa, Antonio, Gan-Or, Ziv, Goate, Alison, Hupalo, Daniel, Infante, Jon, Kaufmann, Horacio, Kim, Ronald C., Krüger, Rejko, Logroscino, Giancarlo, Love, Seth, Mao, Qinwen, Masliah, Eliezer, Pletnikova, Olga, Reynolds, Regina H., Scherzer, Clemens R., Serrano, Geidy E., Xiromerisiou, Georgia, Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Malaspina, Andrea, Thompson, Leslie M., Dardiotis, Efthimios, Chandran, Siddharthan, Butovsky, Oleg, Dubnau, Joshua, Harms, Matt, Poss, Mary, Phillips-Cremins, Jennifer, Altschuler, Steven, Hu, Michele T.M., Leigh, P. Nigel, Massey, Luke A., Pavese, Nicola, Vaughan, Jenny, Rowe, James B., Ghidoni, Roberta, Ryten, Mina, Tanaka, Toshiko, Ferrucci, Luigi, Vonsattel, Jean Paul, Landers, John E.

Get full text

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy by Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry

Get full text

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

Get full text

University of Pennsylvania Telehealth Research Center of Excellence by Wainwright, Jocelyn V, Aggarwal, Charu, Beucker, Sarah, Dougherty, David W, Gabriel, Peter E, Jacobs, Linda A, Kalman, Jillian, Linn, Kristin A, Martella, Anthony O, Mehta, Shivan J, Rhodes, Corinne M, Roy, Megan, Schapira, Marilyn M, Shulman, Lawrence N, Steltz, Jennifer, Stephens Shields, Alisa J, Tan, Andy S L, Thompson, Jeffrey C, Toneff, Hannah, Wender, Richard C, Zeb, Sana, Rendle, Katharine A, Vachani, Anil, Bekelman, Justin E

Get full text

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes by Freeman, Timothy M, Wang, Dennis, Harris, Jason

Get full text

Predicting Long COVID in the National COVID Cohort Collaborative Using Super Learner: Cohort Study by Butzin-Dozier, Zachary, Ji, Yunwen, Li, Haodong, Coyle, Jeremy, Shi, Junming, Phillips, Rachael V, Mertens, Andrew N, Pirracchio, Romain, van der Laan, Mark J, Patel, Rena C, Colford, John M, Hubbard, Alan E

Get full text

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 by Lin, Sheng-Jia, Orr, David, Holden, Simon, Harrison, Mike, Burrows, Nigel, Petree, Cassidy, Donnelly, Deirdre, Ambrose, J.C., Arumugam, P., Boardman-Pretty, F., Chan, G.C., Henderson, S., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Lopez, F.J., Maleady-Crowe, F., O‘Donovan, P., Patch, C., Pereira, M.B., Rahim, T., Savage, K., Sieghart, A., Taylor Tavares, A.L., Thomas, E.R.A., Tucci, A., Welland, M.J., Williams, E., Zurek, Birte, Demidov, German, Schulze-Hentrich, Julia M., Kessler, Christoph, Traschütz, Andreas, Schöls, Ludger, Scheffer, Hans, Steyaert, Wouter, Sablauskas, Karolis, van Os, Nienke, Janssen, Erik, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Mehtarizadeh, Mehdi, Töpf, Ana, Banka, Siddharth, Faivre, Laurence, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Laurie, Steven, Matalonga, Leslie, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Hanauer, Marc, Havrylenko, Svitlana, Izem, Katia, Nelson, Isabelle, Eymard, Bruno, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremlik, Vlastimil, Parkinson, Helen, Robinson, Peter, Hanna, Mike, Houlden, Henry, Vandrovcova, Jana, Muntoni, Francesco, Sarkozy, Anna, Van de Vondel, Liedewei, Banfi, Sandro, Aretz, Stefan, Spier, Isabel, José, Celina São, Ferreira, Marta, Carneiro, Fátima, Johansson, Lennart, van der Vries, Gerben, Roelofs-Prins, Dieuwke, Castello, Raffaele, Morleo, Manuela, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Renieri, Alessandra, Benetti, Elisa, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Polavarapu, Kiran, Beeson, David, Udd, Bjarne, Holinski-Feder, Elke, Steinke-Lange, Verena, Schröck, Evelin, Varshney, Gaurav K.

Get full text