Characterization of Pathway-Specific Regulator NigR for High Yield Production of Nigericin in Streptomyces malaysiensis F913

por Wei, Junhong, Ma, Mengting, Guo, Senwen, Xu, Yaobo, Xie, Jie, Pan, Guoqing, Zhou, Zeyang
Publicado 2022

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 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 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 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 2017

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 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 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 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 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 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 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 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 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 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 2016

The architecture of clonal expansions in morphologically normal tissue from cancerous and non-cancerous prostates

por 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.
Publicado 2022

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 2018

Genome-wide association study identifies susceptibility loci for acute myeloid leukemia

por Lin, Wei-Yu, Fordham, Sarah E., Hungate, Eric, Sunter, Nicola J., Elstob, Claire, Xu, Yaobo, Park, Catherine, Quante, Anne, Strauch, Konstantin, Gieger, Christian, Skol, Andrew, Rahman, Thahira, Sucheston-Campbell, Lara, Wang, Junke, Hahn, Theresa, Clay-Gilmour, Alyssa I., Jones, Gail L., Marr, Helen J., Jackson, Graham H., Menne, Tobias, Collin, Mathew, Ivey, Adam, Hills, Robert K., Burnett, Alan K., Russell, Nigel H., Fitzgibbon, Jude, Larson, Richard A., Le Beau, Michelle M., Stock, Wendy, Heidenreich, Olaf, Alharbi, Abrar, Allsup, David J., Houlston, Richard S., Norden, Jean, Dickinson, Anne M., Douglas, Elisabeth, Lendrem, Clare, Daly, Ann K., Palm, Louise, Piechocki, Kim, Jeffries, Sally, Bornhäuser, Martin, Röllig, Christoph, Altmann, Heidi, Ruhnke, Leo, Kunadt, Desiree, Wagenführ, Lisa, Cordell, Heather J., Darlay, Rebecca, Andersen, Mette K., Fontana, Maria C., Martinelli, Giovanni, Marconi, Giovanni, Sanz, Miguel A., Cervera, José, Gómez-Seguí, Inés, Cluzeau, Thomas, Moreilhon, Chimène, Raynaud, Sophie, Sill, Heinz, Voso, Maria Teresa, Lo-Coco, Francesco, Dombret, Hervé, Cheok, Meyling, Preudhomme, Claude, Gale, Rosemary E., Linch, David, Gaal-Wesinger, Julia, Masszi, Andras, Nowak, Daniel, Hofmann, Wolf-Karsten, Gilkes, Amanda, Porkka, Kimmo, Milosevic Feenstra, Jelena D., Kralovics, Robert, Grimwade, David, Meggendorfer, Manja, Haferlach, Torsten, Krizsán, Szilvia, Bödör, Csaba, Stölzel, Friedrich, Onel, Kenan, Allan, James M.
Publicado 2021

Author Correction: Genome-wide association study identifies susceptibility loci for acute myeloid leukemia

por Lin, Wei-Yu, Fordham, Sarah E., Hungate, Eric, Sunter, Nicola J., Elstob, Claire, Xu, Yaobo, Park, Catherine, Quante, Anne, Strauch, Konstantin, Gieger, Christian, Skol, Andrew, Rahman, Thahira, Sucheston-Campbell, Lara, Wang, Junke, Hahn, Theresa, Clay-Gilmour, Alyssa I., Jones, Gail L., Marr, Helen J., Jackson, Graham H., Menne, Tobias, Collin, Mathew, Ivey, Adam, Hills, Robert K., Burnett, Alan K., Russell, Nigel H., Fitzgibbon, Jude, Larson, Richard A., Le Beau, Michelle M., Stock, Wendy, Heidenreich, Olaf, Alharbi, Abrar, Allsup, David J., Houlston, Richard S., Norden, Jean, Dickinson, Anne M., Douglas, Elisabeth, Lendrem, Clare, Daly, Ann K., Palm, Louise, Piechocki, Kim, Jeffries, Sally, Bornhäuser, Martin, Röllig, Christoph, Altmann, Heidi, Ruhnke, Leo, Kunadt, Desiree, Wagenführ, Lisa, Cordell, Heather J., Darlay, Rebecca, Andersen, Mette K., Fontana, Maria C., Martinelli, Giovanni, Marconi, Giovanni, Sanz, Miguel A., Cervera, José, Gómez-Seguí, Inés, Cluzeau, Thomas, Moreilhon, Chimène, Raynaud, Sophie, Sill, Heinz, Voso, Maria Teresa, Lo-Coco, Francesco, Dombret, Hervé, Cheok, Meyling, Preudhomme, Claude, Gale, Rosemary E., Linch, David, Gaal-Wesinger, Julia, Masszi, Andras, Nowak, Daniel, Hofmann, Wolf-Karsten, Gilkes, Amanda, Porkka, Kimmo, Milosevic Feenstra, Jelena D., Kralovics, Robert, Grimwade, David, Meggendorfer, Manja, Haferlach, Torsten, Krizsán, Szilvia, Bödör, Csaba, Stölzel, Friedrich, Onel, Kenan, Allan, James M.
Publicado 2022