Coeliac Patients Are Undiagnosed at Routine Upper Endoscopy

por Robson, Kathryn, Alizart, Michelle, Martin, Jarad, Nagel, Robyn
Publicado 2014

Distinct gene expression program dynamics during erythropoiesis from human induced pluripotent stem cells compared with adult and cord blood progenitors

por Merryweather-Clarke, Alison T., Tipping, Alex J., Lamikanra, Abigail A., Fa, Rui, Abu-Jamous, Basel, Tsang, Hoi Pat, Carpenter, Lee, Robson, Kathryn J. H., Nandi, Asoke K., Roberts, David J.
Publicado 2016

Association between a common immunoglobulin heavy chain allele and rheumatic heart disease risk in Oceania

por Parks, Tom, Mirabel, Mariana M., Kado, Joseph, Auckland, Kathryn, Nowak, Jaroslaw, Rautanen, Anna, Mentzer, Alexander J., Marijon, Eloi, Jouven, Xavier, Perman, Mai Ling, Cua, Tuliana, Kauwe, John K., Allen, John B., Taylor, Henry, Robson, Kathryn J., Deane, Charlotte M., Steer, Andrew C., Hill, Adrian V. S.
Publicado 2017

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

por Breuss, Martin, Heng, Julian Ik-Tsen, Poirier, Karine, Tian, Guoling, Jaglin, Xavier Hubert, Qu, Zhengdong, Braun, Andreas, Gstrein, Thomas, Ngo, Linh, Haas, Matilda, Bahi-Buisson, Nadia, Moutard, Marie-Laure, Passemard, Sandrine, Verloes, Alain, Gressens, Pierre, Xie, Yunli, Robson, Kathryn J.H., Rani, Deepa Selvi, Thangaraj, Kumarasamy, Clausen, Tim, Chelly, Jamel, Cowan, Nicholas Justin, Keays, David Anthony
Publicado 2012

Language continuity despite population replacement in Remote Oceania

por Posth, Cosimo, Nägele, Kathrin, Colleran, Heidi, Valentin, Frédérique, Bedford, Stuart, Kami, Kaitip W., Shing, Richard, Buckley, Hallie, Kinaston, Rebecca, Walworth, Mary, Clark, Geoffrey R., Reepmeyer, Christian, Flexner, James, Maric, Tamara, Moser, Johannes, Gresky, Julia, Kiko, Lawrence, Robson, Kathryn J., Auckland, Kathryn, Oppenheimer, Stephen J., Hill, Adrian V.S., Mentzer, Alexander J., Zech, Jana, Petchey, Fiona, Roberts, Patrick, Jeong, Choongwon, Gray, Russell D., Krause, Johannes, Powell, Adam
Publicado 2018

Native American gene flow into Polynesia predating Easter Island settlement

por Ioannidis, Alexander G., Blanco-Portillo, Javier, Sandoval, Karla, Hagelberg, Erika, Miquel-Poblete, Juan Francisco, Moreno-Mayar, J. Víctor, Rodriguez-Rodriguez, Juan Esteban, Quinto-Cortés, Consuelo D., Auckland, Kathryn, Parks, Tom, Robson, Kathryn, Hill, Adrian V. S., Avila-Arcos, María C., Sockell, Alexandra, Homburger, Julian R., Wojcik, Genevieve L., Barnes, Kathleen C., Herrera, Luisa, Berríos, Soledad, Acuña, Mónica, Llop, Elena, Eng, Celeste, Huntsman, Scott, Burchard, Esteban G., Gignoux, Christopher R., Cifuentes, Lucia, Verdugo, Ricardo A., Moraga, Mauricio, Mentzer, Alexander J., Bustamante, Carlos D., Moreno-Estrada, Andrés
Publicado 2020

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

por Bastard, Paul, Hsiao, Kuang-Chih, Zhang, Qian, Choin, Jeremy, Best, Emma, Chen, Jie, Gervais, Adrian, Bizien, Lucy, Materna, Marie, Harmant, Christine, Roux, Maguelonne, Hawley, Nicola L., Weeks, Daniel E., McGarvey, Stephen T., Sandoval, Karla, Barberena-Jonas, Carmina, Quinto-Cortés, Consuelo D., Hagelberg, Erika, Mentzer, Alexander J., Robson, Kathryn, Coulibaly, Boubacar, Seeleuthner, Yoann, Bigio, Benedetta, Li, Zhi, Uzé, Gilles, Pellegrini, Sandra, Lorenzo, Lazaro, Sbihi, Zineb, Latour, Sylvain, Besnard, Marianne, Adam de Beaumais, Tiphaine, Jacqz Aigrain, Evelyne, Béziat, Vivien, Deka, Ranjan, Esera Tulifau, Litara, Viali, Satupa‘itea, Reupena, Muagututi‘a Sefuiva, Naseri, Take, McNaughton, Peter, Sarkozy, Vanessa, Peake, Jane, Blincoe, Annaliesse, Primhak, Sarah, Stables, Simon, Gibson, Kate, Woon, See-Tarn, Drake, Kylie Marie, Hill, Adrian V.S., Chan, Cheng-Yee, King, Richard, Ameratunga, Rohan, Teiti, Iotefa, Aubry, Maite, Cao-Lormeau, Van-Mai, Tangye, Stuart G., Zhang, Shen-Ying, Jouanguy, Emmanuelle, Gray, Paul, Abel, Laurent, Moreno-Estrada, Andrés, Minster, Ryan L., Quintana-Murci, Lluis, Wood, Andrew C., Casanova, Jean-Laurent
Publicado 2022

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

por Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Publicado 2015