Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
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 Nature communications (12.10.2018)
Published in Nature communications (12.10.2018)
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Journal Article
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
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 (22.01.2015)
Published in Blood (22.01.2015)
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Journal Article
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy
Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S, Horvath, Rita
Published in Human molecular genetics (15.07.2016)
Published in Human molecular genetics (15.07.2016)
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Journal Article
Point-of-Care Testing of Pathogenic Bacteria at the Single-Colony Level via Gas Pressure Readout Using Aptamer-Coated Magnetic CuFe^sub 2^O^sub 4^ and Vancomycin-Capped Platinum Nanoparticles
Li, Jizhou, Jiang, Huan, Rao, Xinyue, Liu, Zhongde, Zhu, Haiyan, Xu, Yaobo
Published in Analytical chemistry (Washington) (15.01.2019)
Published in Analytical chemistry (Washington) (15.01.2019)
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Journal Article
An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age‐Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure
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 (Dayton, Ohio) (01.11.2017)
Published in Stem cells (Dayton, Ohio) (01.11.2017)
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Journal Article
Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis
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 Human molecular genetics (15.08.2017)
Published in Human molecular genetics (15.08.2017)
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Journal Article
From Scripted HPC-Based NGS Pipelines to Workflows on the Cloud
Cala, Jacek, Yaobo Xu, Wijaya, Eldarina Azfar, Missier, Paolo
Published in 2014 14th IEEE/ACM International Symposium on Cluster, Cloud and Grid Computing (01.05.2014)
Published in 2014 14th IEEE/ACM International Symposium on Cluster, Cloud and Grid Computing (01.05.2014)
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Conference Proceeding
Corrigendum: Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex
Harkin, Lauren F, Lindsay, Susan J, Xu, Yaobo, Alzu'bi, Ayman, Ferrera, Alexandra, Gullon, Emily A, James, Owen G, Clowry, Gavin J
Published in Cerebral cortex (New York, N.Y. 1991) (01.04.2019)
Published in Cerebral cortex (New York, N.Y. 1991) (01.04.2019)
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Journal Article
The architecture of clonal expansions in morphologically normal tissue from cancerous and non-cancerous prostates
Buhigas, Claudia, Warren, Anne Y, Leung, Wing-Kit, Whitaker, Hayley C, Luxton, Hayley J, Hawkins, Steve, Kay, Jonathan, Butler, Adam, Xu, Yaobo, Woodcock, Dan J, Merson, Sue, Frame, Fiona M, Sahli, Atef, Abascal, Federico, Martincorena, Iñigo, Bova, G Steven, Foster, Christopher S, Campbell, Peter, Maitland, Norman J, Neal, David E, Massie, Charlie E, Lynch, Andy G, Eeles, Rosalind A, Cooper, Colin S, Wedge, David C, Brewer, Daniel S
Published in Molecular cancer (22.09.2022)
Published in Molecular cancer (22.09.2022)
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Journal Article
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors
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 & disease (26.01.2018)
Published in Cell death & disease (26.01.2018)
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Journal Article
Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis
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 Journal of clinical immunology (01.10.2015)
Published in Journal of clinical immunology (01.10.2015)
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Journal Article
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux
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 Scientific reports (03.11.2017)
Published in Scientific reports (03.11.2017)
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Journal Article
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
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 Journal of clinical immunology (01.01.2017)
Published in Journal of clinical immunology (01.01.2017)
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Journal Article
AstuteClinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 ofICOSCauses a Combined Immunodeficiency Associated with an Enteritis and Hepatitis
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 Journal of clinical immunology (23.09.2015)
Published in Journal of clinical immunology (23.09.2015)
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Journal Article
Using population data for assessing next-generation sequencing performance
Houniet, Darren T, Rahman, Thahira J, Al Turki, Saeed, Hurles, Matthew E, Xu, Yaobo, Goodship, Judith, Keavney, Bernard, Santibanez Koref, Mauro
Published in Bioinformatics (Oxford, England) (01.01.2015)
Published in Bioinformatics (Oxford, England) (01.01.2015)
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Journal Article
Genomic evolution shapes prostate cancer disease type
Woodcock, Dan J., Sahli, Atef, Teslo, Ruxandra, Bhandari, Vinayak, Gruber, Andreas J., Ziubroniewicz, Aleksandra, Gundem, Gunes, Xu, Yaobo, Butler, Adam, Anokian, Ezequiel, Pope, Bernard J., Jung, Chol-Hee, Tarabichi, Maxime, Dentro, Stefan C., Farmery, J. Henry R., Van Loo, Peter, Warren, Anne Y., Gnanapragasam, Vincent, Hamdy, Freddie C., Bova, G. Steven, Foster, Christopher S., Neal, David E., Lu, Yong-Jie, Kote-Jarai, Zsofia, Fraser, Michael, Bristow, Robert G., Boutros, Paul C., Costello, Anthony J., Corcoran, Niall M., Hovens, Christopher M., Massie, Charlie E., Lynch, Andy G., Brewer, Daniel S., Eeles, Rosalind A., Cooper, Colin S., Wedge, David C.
Published in Cell genomics (13.03.2024)
Published in Cell genomics (13.03.2024)
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Journal Article
Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux
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 Scientific reports (08.01.2018)
Published in Scientific reports (08.01.2018)
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Journal Article