Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

Por Kienzler, Anne-Kathrin, van Schouwenburg, Pauline A., Taylor, John, Marwah, Ishita, Sharma, Richa U., Noakes, Charlotte, Thomson, Kate, Sadler, Ross, Segal, Shelley, Ferry, Berne, Taylor, Jenny C., Blair, Edward, Chapel, Helen, Patel, Smita Y.
Publicado no Clin Immunol (2016)

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

Por van Schouwenburg, Pauline A., Davenport, Emma E., Kienzler, Anne-Kathrin, Marwah, Ishita, Wright, Benjamin, Lucas, Mary, Malinauskas, Tomas, Martin, Hilary C., Lockstone, Helen E., Cazier, Jean-Baptiste, Chapel, Helen M., Knight, Julian C., Patel, Smita Y.
Publicado no Clin Immunol (2015)

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Por Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H
Publicado no Gut (2017)

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

Por Vinh, Donald C., Patel, Smita Y., Uzel, Gulbu, Anderson, Victoria L., Freeman, Alexandra F., Olivier, Kenneth N., Spalding, Christine, Hughes, Stephen, Pittaluga, Stefania, Raffeld, Mark, Sorbara, Lynn R., Elloumi, Houda Z., Kuhns, Douglas B., Turner, Maria L., Cowen, Edward W., Fink, Danielle, Long-Priel, Debra, Hsu, Amy P., Ding, Li, Paulson, Michelle L., Whitney, Adeline R., Sampaio, Elizabeth P., Frucht, David M., DeLeo, Frank R., Holland, Steven M.
Publicado em 2010

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

Por Hsu, Amy P., Sampaio, Elizabeth P., Khan, Javed, Calvo, Katherine R., Lemieux, Jacob E., Patel, Smita Y., Frucht, David M., Vinh, Donald C., Auth, Roger D., Freeman, Alexandra F., Olivier, Kenneth N., Uzel, Gulbu, Zerbe, Christa S., Spalding, Christine, Pittaluga, Stefania, Raffeld, Mark, Kuhns, Douglas B., Ding, Li, Paulson, Michelle L., Marciano, Beatriz E., Gea-Banacloche, Juan C., Orange, Jordan S., Cuellar-Rodriguez, Jennifer, Hickstein, Dennis D., Holland, Steven M.
Publicado em 2011

Adult-onset immunodeficiency in Thailand and Taiwan

Por Browne, Sarah K., Burbelo, Peter D., Chetchotisakd, Ploenchan, Suputtamongkol, Yupin, Kiertiburanakul, Sasisopin, Shaw, Pamela A., Kirk, Jennifer L., Jutivorakool, Kamonwan, Zaman, Rifat, Ding, Li, Hsu, Amy P., Patel, Smita Y., Olivier, Kenneth N., Lulitanond, Viraphong, Mootsikapun, Piroon, Anunnatsiri, Siriluck, Angkasekwinai, Nasikarn, Sathapatayavongs, Boonmee, Hsueh, Po-Ren, Shieh, Chi-Chang, Brown, Margaret R., Thongnoppakhun, Wanna, Claypool, Reginald, Sampaio, Elizabeth P., Thepthai, Charin, Waywa, Duangdao, Dacombe, Camilla, Reizes, Yona, Zelazny, Adrian M., Saleeb, Paul, Rosen, Lindsey B., Mo, Allen, Iadarola, Michael, Holland, Steven M.
Publicado em 2012

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Por Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., Picard, Capucine
Publicado no Blood (2017)

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 no Nat Genet (2015)