Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

gan Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita
Cyhoeddwyd yn Hum Mol Genet (2016)

Using population data for assessing next-generation sequencing performance

gan Houniet, Darren T., Rahman, Thahira J., Al Turki, Saeed, Hurles, Matthew E., Xu, Yaobo, Goodship, Judith, Keavney, Bernard, Santibanez Koref, Mauro
Cyhoeddwyd yn Bioinformatics (2015)

The long non-coding RNA ROCR contributes to SOX9 expression and chondrogenic differentiation of human mesenchymal stem cells

gan Barter, Matt J., Gomez, Rodolfo, Hyatt, Sam, Cheung, Kat, Skelton, Andrew J., Xu, Yaobo, Clark, Ian M., Young, David A.
Cyhoeddwyd yn Development (2017)

Neurexins 1–3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex

gan Harkin, Lauren F, Lindsay, Susan J, Xu, Yaobo, Alzu'bi, Ayman, Ferrara, Alexandra, Gullon, Emily A, James, Owen G, Clowry, Gavin J
Cyhoeddwyd yn Cereb Cortex (2017)

Corrigendum: Neurexins 1–3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex

gan Harkin, Lauren F, Lindsay, Susan J, Xu, Yaobo, Alzu’bi, Ayman, Ferrera, Alexandra, Gullon, Emily A, James, Owen G, Clowry, Gavin J
Cyhoeddwyd yn Cereb Cortex (2019)

AstuteClinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 ofICOSCauses a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

gan Robertson, Nic, Engelhardt, Karin R., Morgan, Neil V., Barge, Dawn, Cant, Andrew J., Hughes, Stephen M., Abinun, Mario, Xu, Yaobo, Koref, Mauro Santibanez, Arkwright, Peter D., Hambleton, Sophie
Cyhoeddwyd yn J Clin Immunol (2015)

A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’

gan Edwards, Noel, Rice, Sarah J., Raman, Shreya, Hynes, Ann Marie, Srivastava, Shalabh, Moore, Iain, Al-Hamed, Mohamed, Xu, Yaobo, Santibanez-Koref, Mauro, Thwaites, David T., Gale, Daniel P., Sayer, John A.
Cyhoeddwyd yn Clin Kidney J (2015)

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

gan Lindsay, Susan J., Xu, Yaobo, Lisgo, Steven N., Harkin, Lauren F., Copp, Andrew J., Gerrelli, Dianne, Clowry, Gavin J., Talbot, Aysha, Keogh, Michael J., Coxhead, Jonathan, Santibanez-Koref, Mauro, Chinnery, Patrick F.
Cyhoeddwyd yn Front Neuroanat (2016)

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors

gan Melguizo-Sanchis, Dario, Xu, Yaobo, Taheem, Dheraj, Yu, Min, Tilgner, Katarzyna, Barta, Tomas, Gassner, Katja, Anyfantis, George, Wan, Tengfei, Elango, Ramu, Alharthi, Sameer, El-Harouni, Ashraf A., Przyborski, Stefan, Adam, Soheir, Saretzki, Gabriele, Samarasinghe, Sujith, Armstrong, Lyle, Lako, Majlinda
Cyhoeddwyd yn Cell Death Dis (2018)

An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age‐Related Macular Degeneration and Indicat...

gan Hallam, Dean, Collin, Joseph, Bojic, Sanja, Chichagova, Valeria, Buskin, Adriana, Xu, Yaobo, Lafage, Lucia, Otten, Elsje. G., Anyfantis, George, Mellough, Carla, Przyborski, Stefan, Alharthi, Sameer, Korolchuk, Viktor, Lotery, Andrew, Saretzki, Gabriele, McKibbin, Martin, Armstrong, Lyle, Steel, David, Kavanagh, David, Lako, Majlinda
Cyhoeddwyd yn Stem Cells (2017)

Thrombotic Microangiopathy in Inverted Formin 2–Mediated Renal Disease

gan Challis, Rachel C., Ring, Troels, Xu, Yaobo, Wong, Edwin K.S., Flossmann, Oliver, Roberts, Ian S.D., Ahmed, Saeed, Wetherall, Michael, Salkus, Giedrius, Brocklebank, Vicky, Fester, Julian, Strain, Lisa, Wilson, Valerie, Wood, Katrina M., Marchbank, Kevin J., Santibanez-Koref, Mauro, Goodship, Timothy H.J., Kavanagh, David
Cyhoeddwyd yn J Am Soc Nephrol (2017)

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

gan Yang, Chunbo, Xu, Yaobo, Yu, Min, Lee, David, Alharti, Sameer, Hellen, Nicola, Ahmad Shaik, Noor, Banaganapalli, Babajan, Sheikh Ali Mohamoud, Hussein, Elango, Ramu, Przyborski, Stefan, Tenin, Gennadiy, Williams, Simon, O’Sullivan, John, Al-Radi, Osman O, Atta, Jameel, Harding, Sian E., Keavney, Bernard, Lako, Majlinda, Armstrong, Lyle
Cyhoeddwyd yn Hum Mol Genet (2017)

Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons

gan Best, Andrew, James, Katherine, Dalgliesh, Caroline, Hong, Elaine, Kheirolahi-Kouhestani, Mahsa, Curk, Tomaz, Xu, Yaobo, Danilenko, Marina, Hussain, Rafiq, Keavney, Bernard, Wipat, Anil, Klinck, Roscoe, Cowell, Ian G., Cheong Lee, Ka, Austin, Caroline A., Venables, Julian P., Chabot, Benoit, Santibanez Koref, Mauro, Tyson-Capper, Alison, Elliott, David J.
Cyhoeddwyd 2014

A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior

gan Ehrmann, Ingrid, Gazzara, Matthew R., Pagliarini, Vittoria, Dalgliesh, Caroline, Kheirollahi-Chadegani, Mahsa, Xu, Yaobo, Cesari, Eleonora, Danilenko, Marina, Maclennan, Marie, Lowdon, Kate, Vogel, Tanja, Keskivali-Bond, Piia, Wells, Sara, Cater, Heather, Fort, Philippe, Santibanez-Koref, Mauro, Middei, Silvia, Sette, Claudio, Clowry, Gavin J., Barash, Yoseph, Cunningham, Mark O., Elliott, David J.
Cyhoeddwyd yn Cell Rep (2016)

Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

gan Darlow, John M., Darlay, Rebecca, Dobson, Mark G., Stewart, Aisling, Charoen, Pimphen, Southgate, Jennifer, Baker, Simon C., Xu, Yaobo, Hunziker, Manuela, Lambert, Heather J., Green, Andrew J., Santibanez-Koref, Mauro, Sayer, John A., Goodship, Timothy H. J., Puri, Prem, Woolf, Adrian S., Kenda, Rajko B., Barton, David E., Cordell, Heather J.
Cyhoeddwyd yn Sci Rep (2017)

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

gan Darlow, John M., Darlay, Rebecca, Dobson, Mark G., Stewart, Aisling, Charoen, Pimphen, Southgate, Jennifer, Baker, Simon C., Xu, Yaobo, Hunziker, Manuela, Lambert, Heather J., Green, Andrew J., Santibanez-Koref, Mauro, Sayer, John A., Goodship, Timothy H. J., Puri, Prem, Woolf, Adrian S., Kenda, Rajko B., Barton, David E., Cordell, Heather J.
Cyhoeddwyd yn Sci Rep (2018)

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

gan Engelhardt, Karin R., Xu, Yaobo, Grainger, Angela, Germani Batacchi, Mila G. C., Swan, David J., Willet, Joseph D. P., Abd Hamid, Intan J., Agyeman, Philipp, Barge, Dawn, Bibi, Shahnaz, Jenkins, Lucy, Flood, Terence J., Abinun, Mario, Slatter, Mary A., Gennery, Andrew R., Cant, Andrew J., Santibanez Koref, Mauro, Gilmour, Kimberly, Hambleton, Sophie
Cyhoeddwyd yn J Clin Immunol (2016)

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

gan Buskin, Adriana, Zhu, Lili, Chichagova, Valeria, Basu, Basudha, Mozaffari-Jovin, Sina, Dolan, David, Droop, Alastair, Collin, Joseph, Bronstein, Revital, Mehrotra, Sudeep, Farkas, Michael, Hilgen, Gerrit, White, Kathryn, Pan, Kuan-Ting, Treumann, Achim, Hallam, Dean, Bialas, Katarzyna, Chung, Git, Mellough, Carla, Ding, Yuchun, Krasnogor, Natalio, Przyborski, Stefan, Zwolinski, Simon, Al-Aama, Jumana, Alharthi, Sameer, Xu, Yaobo, Wheway, Gabrielle, Szymanska, Katarzyna, McKibbin, Martin, Inglehearn, Chris F., Elliott, David J., Lindsay, Susan, Ali, Robin R., Steel, David H., Armstrong, Lyle, Sernagor, Evelyne, Urlaub, Henning, Pierce, Eric, Lührmann, Reinhard, Grellscheid, Sushma-Nagaraja, Johnson, Colin A., Lako, Majlinda
Cyhoeddwyd yn Nat Commun (2018)

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

gan Milner, Joshua D., Vogel, Tiphanie P., Forbes, Lisa, Ma, Chi A., Stray-Pedersen, Asbjørg, Niemela, Julie E., Lyons, Jonathan J., Engelhardt, Karin R., Zhang, Yu, Topcagic, Nermina, Roberson, Elisha D. O., Matthews, Helen, Verbsky, James W., Dasu, Trivikram, Vargas-Hernandez, Alexander, Varghese, Nidhy, McClain, Kenneth L., Karam, Lina B., Nahmod, Karen, Makedonas, George, Mace, Emily M., Sorte, Hanne S., Perminow, Gøri, Rao, V. Koneti, O’Connell, Michael P., Price, Susan, Su, Helen C., Butrick, Morgan, McElwee, Joshua, Hughes, Jason D., Willet, Joseph, Swan, David, Xu, Yaobo, Santibanez-Koref, Mauro, Slowik, Voytek, Dinwiddie, Darrell L., Ciaccio, Christina E., Saunders, Carol J., Septer, Seth, Kingsmore, Stephen F., White, Andrew J., Cant, Andrew J., Hambleton, Sophie, Cooper, Megan A.
Cyhoeddwyd yn Blood (2015)

An essential role for the Zn(2+) transporter ZIP7 in B cell development

gan Anzilotti, Consuelo, Swan, David J., Boisson, Bertrand, Deobagkar-Lele, Mukta, Oliveira, Cathy, Chabosseau, Pauline, Engelhardt, Karin R, Xu, Xijin, Chen, Rui, Alvarez, Luis, Berlinguer-Palmini, Rolando, Bull, Katherine R., Cawthorne, Eleanor, Cribbs, Adam P., Crockford, Tanya L., Dang, Tarana Singh, Fearn, Amy, Fenech, Emma J., de Jong, Sarah J., Lagerholm, B. Christoffer, Ma, Cindy S., Sims, David, van den Berg, Bert, Xu, Yaobo, Cant, Andrew J., Kleiner, Gary, Leahy, T. Ronan, de la Morena, M. Teresa, Puck, Jennifer M., Shapiro, Ralph S., van der Burg, Mirjam, Chapman, J. Ross, Christianson, John C., Davies, Ben, McGrath, John A., Przyborski, Stefan, Koref, Mauro Santibanez, Tangye, Stuart G., Werner, Andreas, Rutter, Guy A., Padilla-Parra, Sergi, Casanova, Jean-Laurent, Cornall, Richard J., Conley, Mary Ellen, Hambleton, Sophie
Cyhoeddwyd yn Nat Immunol (2019)