Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing

por Simon, Michelle M., Moresco, Eva Marie Y., Bull, Katherine R., Kumar, Saumya, Mallon, Ann-Marie, Beutler, Bruce, Potter, Paul K.
Publicado 2015

An ontogenetic switch drives the positive and negative selection of B cells

por Xu, Xijin, Deobagkar-Lele, Mukta, Bull, Katherine R., Crockford, Tanya L., Mead, Adam J., Cribbs, Adam P., Sims, David, Anzilotti, Consuelo, Cornall, Richard J.
Publicado 2020

Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson’s syndrome

por Bull, Katherine R, Mason, Thomas, Rimmer, Andrew J, Crockford, Tanya L, Silver, Karlee L, Bouriez-Jones, Tiphaine, Hough, Tertius A, Chaudhry, Shirine, Roberts, Ian SD, Goodnow, Christopher C, Cornall, Richard J
Publicado 2013

NDRG1 is induced by antigen-receptor signaling but dispensable for B and T cell self-tolerance

por Hodgson, Rose, Xu, Xijin, Anzilotti, Consuelo, Deobagkar-Lele, Mukta, Crockford, Tanya L., Kepple, Jessica D., Cawthorne, Eleanor, Bhandari, Aneesha, Cebrian-Serrano, Alberto, Wilcock, Martin J., Davies, Benjamin, Cornall, Richard J., Bull, Katherine R.
Publicado 2022

Determining the Relationship Between Blood Pressure, Kidney Function, and Chronic Kidney Disease: Insights From Genetic Epidemiology

por Staplin, Natalie, Herrington, William G., Murgia, Federico, Ibrahim, Maysson, Bull, Katherine R., Judge, Parminder K., Ng, Sarah Y.A., Turner, Michael, Zhu, Doreen, Emberson, Jonathan, Landray, Martin J., Baigent, Colin, Haynes, Richard, Hopewell, Jemma C.
Publicado 2022

Prolidase Deficiency Causes Spontaneous T Cell Activation and Lupus-like Autoimmunity

por Hodgson, Rose, Crockford, Tanya L., Bhandari, Aneesha, Kepple, Jessica D., Back, Jennifer, Cawthorne, Eleanor, Abeler-Dörner, Lucie, Laing, Adam G., Clare, Simon, Speak, Anneliese, Adams, David J., Dougan, Gordon, Hayday, Adrian C., Deobagkar-Lele, Mukta, Cornall, Richard J., Bull, Katherine R.
Publicado 2023

VEGF regulates local inhibitory complement proteins in the eye and kidney

por Keir, Lindsay S., Firth, Rachel, Aponik, Lyndsey, Feitelberg, Daniel, Sakimoto, Susumu, Aguilar, Edith, Welsh, Gavin I., Richards, Anna, Usui, Yoshihiko, Satchell, Simon C., Kuzmuk, Valeryia, Coward, Richard J., Goult, Jonathan, Bull, Katherine R., Sharma, Ruchi, Bharti, Kapil, Westenskow, Peter D., Michael, Iacovos P., Saleem, Moin A., Friedlander, Martin
Publicado 2016

Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations

por Bull, Katherine R., Rimmer, Andrew J., Siggs, Owen M., Miosge, Lisa A., Roots, Carla M., Enders, Anselm, Bertram, Edward M., Crockford, Tanya L., Whittle, Belinda, Potter, Paul K., Simon, Michelle M., Mallon, Ann-Marie, Brown, Steve D. M., Beutler, Bruce, Goodnow, Christopher C., Lunter, Gerton, Cornall, Richard J.
Publicado 2013

B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8(−) dendritic cells require the intramembrane endopeptidase SPPL2A

por Bergmann, Hannes, Yabas, Mehmet, Short, Alanna, Miosge, Lisa, Barthel, Nadine, Teh, Charis E., Roots, Carla M., Bull, Katherine R., Jeelall, Yogesh, Horikawa, Keisuke, Whittle, Belinda, Balakishnan, Bhavani, Sjollema, Geoff, Bertram, Edward M., Mackay, Fabienne, Rimmer, Andrew J., Cornall, Richard J., Field, Matthew A., Andrews, T. Daniel, Goodnow, Christopher C., Enders, Anselm
Publicado 2013

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

por Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Publicado 2023