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

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

Using population data for assessing next-generation sequencing performance

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

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

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

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

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

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

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

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

por 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
Publicado en J Clin Immunol (2015)

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

por 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.
Publicado en Clin Kidney J (2015)

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

por 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.
Publicado en Front Neuroanat (2016)

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

por 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
Publicado en 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...

por 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
Publicado en Stem Cells (2017)

Thrombotic Microangiopathy in Inverted Formin 2–Mediated Renal Disease

por 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
Publicado en J Am Soc Nephrol (2017)

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

por 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
Publicado en Hum Mol Genet (2017)

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

por 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.
Publicado 2014

A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior

por 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.
Publicado en Cell Rep (2016)

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

por 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.
Publicado en 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

por 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.
Publicado en Sci Rep (2018)

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

por 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
Publicado en J Clin Immunol (2016)

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

por 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
Publicado en Nat Commun (2018)

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

por 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.
Publicado en Blood (2015)

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

por 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
Publicado en Nat Immunol (2019)