Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2011

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

por Leiter, Sarah M, Parker, Victoria E R, Welters, Alena, Knox, Rachel, Rocha, Nuno, Clark, Graeme, Payne, Felicity, Lotta, Luca, Harris, Julie, Guerrero-Fernández, Julio, González-Casado, Isabel, García-Miñaur, Sixto, Gordo, Gema, Wareham, Nick, Martínez-Glez, Víctor, Allison, Michael, O’Rahilly, Stephen, Barroso, Inês, Meissner, Thomas, Davies, Susan, Hussain, Khalid, Temple, Karen, Barreda-Bonis, Ana-Coral, Kummer, Sebastian, Semple, Robert K
Publicado 2017

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Del Vecchio Duarte, Silvana, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2018

School-Level Variation in Coverage of Co-Administered dTpa and HPV Dose 1 in Three Australian States

por Vujovich-Dunn, Cassandra, Skinner, Susan Rachel, Brotherton, Julia, Wand, Handan, Sisnowski, Jana, Lorch, Rebecca, Veitch, Mark, Sheppeard, Vicky, Effler, Paul, Gidding, Heather, Venn, Alison, Davies, Cristyn, Hocking, Jane, Whop, Lisa J., Leask, Julie, Canfell, Karen, Sanci, Lena, Smith, Megan, Kang, Melissa, Temple-Smith, Meredith, Kidd, Michael, Burns, Sharyn, Selvey, Linda, Meijer, Dennis, Ennis, Sonya, Thomson, Chloe A., Lane, Nikole, Kaldor, John, Guy, Rebecca
Publicado 2021

Measuring school level attributable risk to support school-based HPV vaccination programs

por Vujovich-Dunn, C., Wand, H., Brotherton, J. M. L., Gidding, H., Sisnowski, J., Lorch, R., Veitch, M., Sheppeard, V., Effler, P., Skinner, S. R., Venn, A., Davies, C., Hocking, J., Whop, L., Leask, J., Canfell, K., Sanci, L., Smith, M., Kang, M., Temple-Smith, M., Kidd, M., Burns, S., Selvey, L., Meijer, D., Ennis, S., Thomson, C., Lane, N., Kaldor, J., Guy, R.
Publicado 2022

Creating Patient-Specific Neural Cells for the In Vitro Study of Brain Disorders

por Brennand, Kristen J., Marchetto, M. Carol, Benvenisty, Nissim, Brüstle, Oliver, Ebert, Allison, Izpisua Belmonte, Juan Carlos, Kaykas, Ajamete, Lancaster, Madeline A., Livesey, Frederick J., McConnell, Michael J., McKay, Ronald D., Morrow, Eric M., Muotri, Alysson R., Panchision, David M., Rubin, Lee L., Sawa, Akira, Soldner, Frank, Song, Hongjun, Studer, Lorenz, Temple, Sally, Vaccarino, Flora M., Wu, Jun, Vanderhaeghen, Pierre, Gage, Fred H., Jaenisch, Rudolf
Publicado 2015

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

por Jeffries, Aaron R., Maroofian, Reza, Salter, Claire G., Chioza, Barry A., Cross, Harold E., Patton, Michael A., Dempster, Emma, Temple, I. Karen, Mackay, Deborah J.G., Rezwan, Faisal I., Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F., Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H., Baple, Emma L.
Publicado 2019

Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

por Gualtieri, Angelica, Kyprianou, Nikolina, Gregory, Louise C., Vignola, Maria Lillina, Nicholson, James G., Tan, Rachael, Inoue, Shin-ichi, Scagliotti, Valeria, Casado, Pedro, Blackburn, James, Abollo-Jimenez, Fernando, Marinelli, Eugenia, Besser, Rachael E. J., Högler, Wolfgang, Karen Temple, I., Davies, Justin H., Gagunashvili, Andrey, Robinson, Iain C.A.F., Camper, Sally A., Davis, Shannon W., Cutillas, Pedro R., Gevers, Evelien F., Aoki, Yoko, Dattani, Mehul T., Gaston-Massuet, Carles
Publicado 2021

Effect of Mailing Educational Material to Patients With Atrial Fibrillation and Their Clinicians on Use of Oral Anticoagulants: A Randomized Clinical Trial

por Pokorney, Sean D., Cocoros, Noelle, Al-Khalidi, Hussein R., Haynes, Kevin, Li, Shuang, Al-Khatib, Sana M., Corrigan-Curay, Jacqueline, Driscoll, Meighan Rogers, Garcia, Crystal, Calvert, Sara B., Harkins, Thomas, Jin, Robert, Knecht, Daniel, Levenson, Mark, Lin, Nancy D., Martin, David, McCall, Debbe, McMahill-Walraven, Cheryl, Nair, Vinit, Parlett, Lauren, Petrone, Andrew, Temple, Robert, Zhang, Rongmei, Zhou, Yunping, Platt, Richard, Granger, Christopher B.
Publicado 2022

An Iterative Approach Guides Discovery of the FabI Inhibitor Fabimycin, a Late-Stage Antibiotic Candidate with In Vivo Efficacy against Drug-Resistant Gram-Negative Infections

por Parker, Erica N., Cain, Brett N., Hajian, Behnoush, Ulrich, Rebecca J., Geddes, Emily J., Barkho, Sulyman, Lee, Hyang Yeon, Williams, John D., Raynor, Malik, Caridha, Diana, Zaino, Angela, Shekhar, Mrinal, Muñoz, Kristen A., Rzasa, Kara M., Temple, Emily R., Hunt, Diana, Jin, Xiannu, Vuong, Chau, Pannone, Kristina, Kelly, Aya M., Mulligan, Michael P., Lee, Katie K., Lau, Gee W., Hung, Deborah T., Hergenrother, Paul J.
Publicado 2022

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

por Mackay, Deborah, Bliek, Jet, Kagami, Masayo, Tenorio-Castano, Jair, Pereda, Arrate, Brioude, Frédéric, Netchine, Irène, Papingi, Dzhoy, de Franco, Elisa, Lever, Margaret, Sillibourne, Julie, Lombardi, Paola, Gaston, Véronique, Tauber, Maithé, Diene, Gwenaelle, Bieth, Eric, Fernandez, Luis, Nevado, Julian, Tümer, Zeynep, Riccio, Andrea, Maher, Eamonn R., Beygo, Jasmin, Tannorella, Pierpaola, Russo, Silvia, de Nanclares, Guiomar Perez, Temple, I. Karen, Ogata, Tsutomu, Lapunzina, Pablo, Eggermann, Thomas
Publicado 2022

Functional imaging and circulating biomarkers of response to regorafenib in treatment-refractory metastatic colorectal cancer patients in a prospective phase II study

por Khan, Khurum, Rata, Mihaela, Cunningham, David, Koh, Dow-Mu, Tunariu, Nina, Hahne, Jens C, Vlachogiannis, George, Hedayat, Somaieh, Marchetti, Silvia, Lampis, Andrea, Damavandi, Mahnaz Darvish, Lote, Hazel, Rana, Isma, Williams, Anja, Eccles, Suzanne A, Fontana, Elisa, Collins, David, Eltahir, Zakaria, Rao, Sheela, Watkins, David, Starling, Naureen, Thomas, Jan, Kalaitzaki, Eleftheria, Fotiadis, Nicos, Begum, Ruwaida, Bali, Maria, Rugge, Massimo, Temple, Eleanor, Fassan, Matteo, Chau, Ian, Braconi, Chiara, Valeri, Nicola
Publicado 2018

Correction to “An Iterative Approach Guides Discovery of the FabI Inhibitor Fabimycin, a Late-Stage Antibiotic Candidate with In Vivo Efficacy against Drug-Resistant Gram-Negative...

por Parker, Erica N., Cain, Brett N., Hajian, Behnoush, Ulrich, Rebecca J., Geddes, Emily J., Barkho, Sulyman, Lee, Hyang Yeon, Williams, John D., Raynor, Malik, Caridha, Diana, Zaino, Angela, Rohde, Jason M., Zak, Mark, Shekhar, Mrinal, Muñoz, Kristen A., Rzasa, Kara M., Temple, Emily R., Hunt, Diana, Jin, Xiannu, Vuong, Chau, Pannone, Kristina, Kelly, Aya M., Mulligan, Michael P., Lee, Katie K., Lau, Gee W., Hung, Deborah T., Hergenrother, Paul J.
Publicado 2022

Enhancing pre-employment transition services: A type 1 hybrid randomized controlled trial protocol for evaluating WorkChat: A Virtual Workday among autistic transition-age youth

por Smith, Matthew J., Sherwood, Kari, Sung, Connie, Williams, Ed-Dee, Ross, Brittany, Sharma, Sagun, Sharma, Apara, Harrington, Meghan, Brown, Cheryl, Telfer, David, Bond, Justine, Toda, Sen, Kearon, David, Morrow, Shelby, Lovelace, Temple, Dababnah, Sarah, Kattari, Shanna K., Magaña, Sandra, Watkins, Tikia, Liggett, Caleb, Riddle, Edwina, Smith, Justin D., Hume, Kara, Dawkins, Tamara, Baker-Ericzén, Mary, Eack, Shaun M., Sinco, Brandi, Burke-Miller, Jane K., Olsen, Dale, Elkins, Jeff, Humm, Laura, Steacy, Chris
Publicado 2023

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

por Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
Publicado 2011

Pathogenicity and selective constraint on variation near splice sites

por Lord, Jenny, Gallone, Giuseppe, Short, Patrick J., McRae, Jeremy F., Ironfield, Holly, Wynn, Elizabeth H., Gerety, Sebastian S., He, Liu, Kerr, Bronwyn, Johnson, Diana S., McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I. Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P.M., Lam, Wayne, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Barrett, Jeffrey C., Hurles, Matthew E.
Publicado 2019

Survival After Induction Chemotherapy and Chemoradiation Versus Chemoradiation and Adjuvant Chemotherapy for Locally Advanced Rectal Cancer

por Kim, Jin K, Marco, Michael R, Roxburgh, Campbell S D, Chen, Chin-Tung, Cercek, Andrea, Strombom, Paul, Temple, Larissa K F, Nash, Garrett M, Guillem, Jose G, Paty, Philip B, Yaeger, Rona, Stadler, Zsofia K, Gonen, Mithat, Segal, Neil H, Reidy, Diane L, Varghese, Anna, Shia, Jinru, Vakiani, Efsevia, Wu, Abraham J, Romesser, Paul B, Crane, Christopher H, Gollub, Marc J, Saltz, Leonard, Smith, J Joshua, Weiser, Martin R, Patil, Sujata, Garcia-Aguilar, Julio
Publicado 2022

Climate change, human health, and resilience in the Holocene

por Robbins Schug, Gwen, Buikstra, Jane E., DeWitte, Sharon N., Baker, Brenda J., Berger, Elizabeth, Buzon, Michele R., Davies-Barrett, Anna M., Goldstein, Lynne, Grauer, Anne L., Gregoricka, Lesley A., Halcrow, Siân E., Knudson, Kelly J., Larsen, Clark Spencer, Martin, Debra L., Nystrom, Kenneth C., Perry, Megan A., Roberts, Charlotte A., Santos, Ana Luisa, Stojanowski, Christopher M., Suby, Jorge A., Temple, Daniel H., Tung, Tiffiny A., Vlok, Melandri, Watson-Glen, Tatyana, Zakrzewski, Sonia R.
Publicado 2023

Recommendations to Enhance Pediatric Cardiovascular Drug Development: Report of a Multi‐Stakeholder Think Tank

por Torok, Rachel D., Li, Jennifer S., Kannankeril, Prince J., Atz, Andrew M., Bishai, Raafat, Bolotin, Ellen, Breitenstein, Stefanie, Chen, Cathy, Diacovo, Thomas, Feltes, Timothy, Furlong, Patricia, Hanna, Michael, Graham, Eric M., Hsu, Daphne, Ivy, D. Dunbar, Murphy, Dianne, Kammerman, Lisa A., Kearns, Gregory, Lawrence, John, Lebeaut, Brigitte, Li, Danshi, Male, Christoph, McCrindle, Brian, Mugnier, Pierre, Newburger, Jane W., Pearson, Gail D., Peiris, Vasum, Percival, Lisa, Pina, Miriam, Portman, Ronald, Shaddy, Robert, Stockbridge, Norman L., Temple, Robert, Hill, Kevin D.
Publicado 2018