Possible Regulatory Roles of Promoter G-Quadruplexes in Cardiac Function-Related Genes – Human TnIc as a Model

por Zhou, Wenhua, Suntharalingam, Kogularamanan, Brand, Nigel J., Barton, Paul J. R., Vilar, Ramon, Ying, Liming
Publicado 2013

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

por Mazzarotto, Francesco, Olivotto, Iacopo, Boschi, Beatrice, Girolami, Francesca, Poggesi, Corrado, Barton, Paul J. R., Walsh, Roddy
Publicado 2020

FineSplice, enhanced splice junction detection and quantification: a novel pipeline based on the assessment of diverse RNA-Seq alignment solutions

por Gatto, Alberto, Torroja-Fungairiño, Carlos, Mazzarotto, Francesco, Cook, Stuart A., Barton, Paul J. R., Sánchez-Cabo, Fátima, Lara-Pezzi, Enrique
Publicado 2014

AMP Deaminase 1 Gene Polymorphism and Heart Disease—A Genetic Association That Highlights New Treatment

por Smolenski, Ryszard T., Rybakowska, Iwona, Turyn, Jacek, Romaszko, Paweł, Zabielska, Magdalena, Taegtmeyer, Anne, Słomińska, Ewa M., Kaletha, Krystian K., Barton, Paul J. R.
Publicado 2014

Choice of Cell-Delivery Route for Skeletal Myoblast Transplantation for Treating Post-Infarction Chronic Heart Failure in Rat

por Fukushima, Satsuki, Coppen, Steven R., Lee, Joon, Yamahara, Kenichi, Felkin, Leanne E., Terracciano, Cesare M. N., Barton, Paul J. R., Yacoub, Magdi H., Suzuki, Ken
Publicado 2008

Role and possible mechanisms of clenbuterol in enhancing reverse remodelling during mechanical unloading in murine heart failure

por Soppa, Gopal K.R., Lee, Joon, Stagg, Mark A., Felkin, Leanne E., Barton, Paul J.R., Siedlecka, Urszula, Youssef, Samuel, Yacoub, Magdi H., Terracciano, Cesare M.N.
Publicado 2008

Cardiomyocyte-Restricted Expression of IL11 Causes Cardiac Fibrosis, Inflammation, and Dysfunction

por Sweeney, Mark, O’Fee, Katie, Villanueva-Hayes, Chelsie, Rahman, Ekhlas, Lee, Michael, Vanezis, Konstantinos, Andrew, Ivan, Lim, Wei-Wen, Widjaja, Anissa, Barton, Paul J. R., Cook, Stuart A.
Publicado 2023

Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

por Li, Xinzhong, Buckton, Andrew J., Wilkinson, Samuel L., John, Shibu, Walsh, Roddy, Novotny, Tomas, Valaskova, Iveta, Gupta, Manu, Game, Laurence, Barton, Paul J R., Cook, Stuart A., Ware, James S.
Publicado 2013

Using high-resolution variant frequencies to empower clinical genome interpretation

por Whiffin, Nicola, Minikel, Eric, Walsh, Roddy, O’Donnell-Luria, Anne H, Karczewski, Konrad, Ing, Alexander Y, Barton, Paul J R, Funke, Birgit, Cook, Stuart A, MacArthur, Daniel, Ware, James S
Publicado 2017

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

por Rea, Gillian, Homfray, Tessa, Till, Jan, Roses-Noguer, Ferran, Buchan, Rachel J., Wilkinson, Sam, Wilk, Alicja, Walsh, Roddy, John, Shibu, McKee, Shane, Stewart, Fiona J., Murday, Victoria, Taylor, Robert W., Ashworth, Michael, Baksi, A. John, Daubeney, Piers, Prasad, Sanjay, Barton, Paul J.R., Cook, Stuart A., Ware, James S.
Publicado 2017

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

por Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Cook, Stuart A., Barton, Paul J. R., MacArthur, Daniel G., Ware, James S.
Publicado 2020

Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

por Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Cook, Stuart A., Barton, Paul J. R., MacArthur, Daniel G., Ware, James S.
Publicado 2021

New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy

por Aguib, Yasmine, Allouba, Mona, Walsh, Roddy, Ibrahim, Ayman M., Halawa, Sarah, Afify, Alaa, Hosny, Mohammed, Theotokis, Pantazis I., Galal, Aya, Elshorbagy, Sara, Roshdy, Mohamed, Kassem, Heba S., Ellithy, Amany, Buchan, Rachel, Whiffin, Nicola, Anwer, Shehab, Cook, Stuart A., Moustafa, Ahmed, ElGuindy, Ahmed, Ware, James S., Barton, Paul J.R., Yacoub, Magdi
Publicado 2021

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

por McGurk, Kathryn A., Zhang, Xiaolei, Theotokis, Pantazis, Thomson, Kate, Harper, Andrew, Buchan, Rachel J., Mazaika, Erica, Ormondroyd, Elizabeth, Wright, William T., Macaya, Daniela, Pua, Chee Jian, Funke, Birgit, MacArthur, Daniel G., Prasad, Sanjay K., Cook, Stuart A., Allouba, Mona, Aguib, Yasmine, Yacoub, Magdi H., O'Regan, Declan P., Barton, Paul J.R., Watkins, Hugh, Bottolo, Leonardo, Ware, James S.
Publicado 2023

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

por Walsh, Roddy, Mazzarotto, Francesco, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Li, Nicholas, Felkin, Leanne, Ingold, Nathan, Govind, Risha, Ahmad, Mian, Mazaika, Erica, Allouba, Mona, Zhang, Xiaolei, de Marvao, Antonio, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Thomson, Kate L., Watkins, Hugh, Barton, Paul J. R., Olivotto, Iacopo, Cook, Stuart A., Ware, James S.
Publicado 2019

WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling

por Chen, Huimei, Moreno-Moral, Aida, Pesce, Francesco, Devapragash, Nithya, Mancini, Massimiliano, Heng, Ee Ling, Rotival, Maxime, Srivastava, Prashant K., Harmston, Nathan, Shkura, Kirill, Rackham, Owen J. L., Yu, Wei-Ping, Sun, Xi-Ming, Tee, Nicole Gui Zhen, Tan, Elisabeth Li Sa, Barton, Paul J. R., Felkin, Leanne E., Lara-Pezzi, Enrique, Angelini, Gianni, Beltrami, Cristina, Pravenec, Michal, Schafer, Sebastian, Bottolo, Leonardo, Hubner, Norbert, Emanueli, Costanza, Cook, Stuart A., Petretto, Enrico
Publicado 2019

Author Correction: WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling

por Chen, Huimei, Moreno-Moral, Aida, Pesce, Francesco, Devapragash, Nithya, Mancini, Massimiliano, Heng, Ee Ling, Rotival, Maxime, Srivastava, Prashant K., Harmston, Nathan, Shkura, Kirill, Rackham, Owen J. L., Yu, Wei-Ping, Sun, Xi-Ming, Tee, Nicole Gui Zhen, Tan, Elisabeth Li Sa, Barton, Paul J. R., Felkin, Leanne E., Lara-Pezzi, Enrique, Angelini, Gianni, Beltrami, Cristina, Pravenec, Michal, Schafer, Sebastian, Bottolo, Leonardo, Hubner, Norbert, Emanueli, Costanza, Cook, Stuart A., Petretto, Enrico
Publicado 2019

Widespread Translational Control of Fibrosis in the Human Heart by RNA-Binding Proteins

por Chothani, Sonia, Schäfer, Sebastian, Adami, Eleonora, Viswanathan, Sivakumar, Widjaja, Anissa A., Langley, Sarah R., Tan, Jessie, Wang, Mao, Quaife, Nicholas M., Jian Pua, Chee, D’Agostino, Giuseppe, Guna Shekeran, Shamini, George, Benjamin L., Lim, Stella, Yiqun Cao, Elaine, van Heesch, Sebastiaan, Witte, Franziska, Felkin, Leanne E., Christodoulou, Eleni G., Dong, Jinrui, Blachut, Susanne, Patone, Giannino, Barton, Paul J.R., Hubner, Norbert, Cook, Stuart A., Rackham, Owen J.L.
Publicado 2019

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

por Mazzarotto, Francesco, Hawley, Megan H., Beltrami, Matteo, Beekman, Leander, de Marvao, Antonio, McGurk, Kathryn A., Statton, Ben, Boschi, Beatrice, Girolami, Francesca, Roberts, Angharad M., Lodder, Elisabeth M., Allouba, Mona, Romeih, Soha, Aguib, Yasmine, Baksi, A. John, Pantazis, Antonis, Prasad, Sanjay K., Cerbai, Elisabetta, Yacoub, Magdi H., O’Regan, Declan P., Cook, Stuart A., Ware, James S., Funke, Birgit, Olivotto, Iacopo, Bezzina, Connie R., Barton, Paul J. R., Walsh, Roddy
Publicado 2021

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

por Mazzarotto, Francesco, Tayal, Upasana, Buchan, Rachel J., Midwinter, William, Wilk, Alicja, Whiffin, Nicola, Govind, Risha, Mazaika, Erica, de Marvao, Antonio, Dawes, Timothy J.W., Felkin, Leanne E., Ahmad, Mian, Theotokis, Pantazis I., Edwards, Elizabeth, Ing, Alexander Y., Thomson, Kate L., Chan, Laura L.H., Sim, David, Baksi, A. John, Pantazis, Antonis, Roberts, Angharad M., Watkins, Hugh, Funke, Birgit, O’Regan, Declan P., Olivotto, Iacopo, Barton, Paul J.R., Prasad, Sanjay K., Cook, Stuart A., Ware, James S., Walsh, Roddy
Publicado 2020