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

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

Using population data for assessing next-generation sequencing performance

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

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

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

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

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

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

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

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

by 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
Published in J Clin Immunol (2015)

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

by 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.
Published in Clin Kidney J (2015)

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

by 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.
Published in Front Neuroanat (2016)

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

by 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
Published in 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...

by 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
Published in Stem Cells (2017)

Thrombotic Microangiopathy in Inverted Formin 2–Mediated Renal Disease

by 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
Published in J Am Soc Nephrol (2017)

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

by 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
Published in Hum Mol Genet (2017)

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

by 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.
Published 2014

A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior

by 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.
Published in Cell Rep (2016)

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

by 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.
Published in 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

by 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.
Published in Sci Rep (2018)

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

by 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
Published in J Clin Immunol (2016)

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

by 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
Published in Nat Commun (2018)

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

by 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.
Published in Blood (2015)

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

by 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
Published in Nat Immunol (2019)