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 no J Pathol (2013)

Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas

Por Newey, Paul J., Nesbit, M. Andrew, Rimmer, Andrew J., Attar, Moustafa, Head, Rosie T., Christie, Paul T., Gorvin, Caroline M., Stechman, Michael, Gregory, Lorna, Mihai, Radu, Sadler, Greg, McVean, Gil, Buck, David, Thakker, Rajesh V.
Publicado no J Clin Endocrinol Metab (2012)

Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas

Por Newey, Paul J., Nesbit, M. Andrew, Rimmer, Andrew J., Head, Rosie A., Gorvin, Caroline M., Attar, Moustafa, Gregory, Lorna, Wass, John A. H., Buck, David, Karavitaki, Niki, Grossman, Ashley B., McVean, Gilean, Ansorge, Olaf, Thakker, Rajesh V.
Publicado no J Clin Endocrinol Metab (2013)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Por Nesbit, M. Andrew, Hannan, Fadil M., Howles, Sarah A., Reed, Anita A.C., Cranston, Treena, Thakker, Clare E., Gregory, Lorna, Rimmer, Andrew J., Rust, Nigel, Graham, Una, Morrison, Patrick J., Hunter, Steven J., Whyte, Michael P., McVean, Gil, Buck, David, Thakker, Rajesh V.
Publicado em 2012

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 em 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 em 2013

Evolutionary dynamics of Staphylococcus aureus during progression from carriage to disease

Por Young, Bernadette C., Golubchik, Tanya, Batty, Elizabeth M., Fung, Rowena, Larner-Svensson, Hanna, Votintseva, Antonina A., Miller, Ruth R., Godwin, Heather, Knox, Kyle, Everitt, Richard G., Iqbal, Zamin, Rimmer, Andrew J., Cule, Madeleine, Ip, Camilla L. C., Didelot, Xavier, Harding, Rosalind M., Donnelly, Peter, Peto, Tim E., Crook, Derrick W., Bowden, Rory, Wilson, Daniel J.
Publicado em 2012