Genotype positive hypertrophic cardiomyopathy is associated with myocardial perfusion abnormalities

per Keenan, Niall G, Varkey, Sneha, Buchan, Rachel J, Roberts, Angharad M, Ware, James S, Raphael, Claire E, Gulati, Ankur, Pennell, Dudley J, Prasad, Sanjay K, Cook, Stuart A
Publicat 2014

Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

per Sanoudou, Despina, Kolokathis, Fotis, Arvanitis, Demetris, Al-Shafai, Kholoud, Krishnamoorthy, Navaneethakrishnan, Buchan, Rachel J, Walsh, Roddy, Tsiapras, Dimitris, Barton, Paul JR, Cook, Stuart A, Kremastinos, Dimitrios, Yacoub, Magdi
Publicat a Glob Cardiol Sci Pract (2015)

Titin: a phenotype-genotype descriptive comparison of dilated cardiomyopathy

per Baksi, Arun J, Roberts, Angharad M, Ware, James S, Gulati, Ankur, Buchan, Rachel J, Walsh, Roddy, John, Shibu, Wilkinson, Samuel, Ali, Aamir, Assomull, Ravi G, Barton, Paul J, Prasad, Sanjay K, Pennell, Dudley J, Cook, Stuart A
Publicat 2014

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

per 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.
Publicat a Cold Spring Harb Mol Case Stud (2017)

Genetic Etiology for Alcohol-Induced Cardiac Toxicity

per Ware, James S., Amor-Salamanca, Almudena, Tayal, Upasana, Govind, Risha, Serrano, Isabel, Salazar-Mendiguchía, Joel, García-Pinilla, Jose Manuel, Pascual-Figal, Domingo A., Nuñez, Julio, Guzzo-Merello, Gonzalo, Gonzalez-Vioque, Emiliano, Bardaji, Alfredo, Manito, Nicolas, López-Garrido, Miguel A., Padron-Barthe, Laura, Edwards, Elizabeth, Whiffin, Nicola, Walsh, Roddy, Buchan, Rachel J., Midwinter, William, Wilk, Alicja, Prasad, Sanjay, Pantazis, Antonis, Baski, John, O’Regan, Declan P., Alonso-Pulpon, Luis, Cook, Stuart A., Lara-Pezzi, Enrique, Barton, Paul J., Garcia-Pavia, Pablo
Publicat a J Am Coll Cardiol (2018)

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

per 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
Publicat a Circulation (2020)

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

per Roberts, Angharad M., Ware, James S., Herman, Daniel S., Schafer, Sebastian, Baksi, John, Bick, Alexander G., Buchan, Rachel J., Walsh, Roddy, John, Shibu, Wilkinson, Samuel, Mazzarotto, Francesco, Felkin, Leanne E., Gong, Sungsam, MacArthur, Jacqueline A.L., Cunningham, Fiona, Flannick, Jason, Gabriel, Stacey B., Altshuler, David M., Macdonald, Peter S., Heinig, Matthias, Keogh, Anne M., Hayward, Christopher S., Banner, Nicholas R., Pennell, Dudley J., O’Regan, Declan, San, Tan Ru, de Marvao, Antonio, Dawes, Timothy J. W., Gulati, Ankur, Birks, Emma J., Yacoub, Magdi H., Radke, Michael, Gotthardt, Michael, Wilson, James G., O’Donnell, Christopher J., Prasad, Sanjay K., Barton, Paul J.R., Fatkin, Diane, Hubner, Norbert, Seidman, J. G., Seidman, Christine E., Cook, Stuart A.
Publicat a Sci Transl Med (2015)

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients

per Pua, Chee Jian, Tham, Nevin, Chin, Calvin W.L., Walsh, Roddy, Khor, Chiea Chuen, Toepfer, Christopher N., Repetti, Giuliana G., Garfinkel, Amanda C., Ewoldt, Jourdan K., Cloonan, Paige, Chen, Christopher S., Lim, Shi Qi, Cai, Jiashen, Loo, Li Yang, Kong, Siew Ching, Chiang, Charleston W.K., Whiffin, Nicola, de Marvao, Antonio, Lio, Pei Min, Hii, An An, Yang, Cheng Xi, Le, Thu Thao, Bylstra, Yasmin, Lim, Weng Khong, Teo, Jing Xian, Padilha, Kallyandra, Silva, Gabriela V., Pan, Bangfen, Govind, Risha, Buchan, Rachel J., Barton, Paul J.R., Tan, Patrick, Foo, Roger, Yip, James W.L., Wong, Raymond C.C., Chan, Wan Xian, Pereira, Alexandre C., Tang, Hak Chiaw, Jamuar, Saumya Shekhar, Ware, James S., Seidman, Jonathan G., Seidman, Christine E., Cook, Stuart A.
Publicat a Circ Genom Precis Med (2020)

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

per Tadros, Rafik, Francis, Catherine, Xu, Xiao, Vermeer, Alexa M. C., Harper, Andrew R., Huurman, Roy, Bisabu, Ken Kelu, Walsh, Roddy, Hoorntje, Edgar T., te Rijdt, Wouter P., Buchan, Rachel J., van Velzen, Hannah G., van Slegtenhorst, Marjon A., Vermeulen, Jentien M., Offerhaus, Joost Allard, Bai, Wenjia, de Marvao, Antonio, Lahrouchi, Najim, Beekman, Leander, Karper, Jacco C., Veldink, Jan H., Kayvanpour, Elham, Pantazis, Antonis, Baksi, A. John, Whiffin, Nicola, Mazzarotto, Francesco, Sloane, Geraldine, Suzuki, Hideaki, Schneider-Luftman, Deborah, Elliott, Paul, Richard, Pascale, Ader, Flavie, Villard, Eric, Lichtner, Peter, Meitinger, Thomas, Tanck, Michael W. T., van Tintelen, J. Peter, Thain, Andrew, McCarty, David, Hegele, Robert A., Roberts, Jason D., Amyot, Julie, Dubé, Marie-Pierre, Cadrin-Tourigny, Julia, Giraldeau, Geneviève, L’Allier, Philippe L., Garceau, Patrick, Tardif, Jean-Claude, Boekholdt, S. Matthijs, Lumbers, R. Thomas, Asselbergs, Folkert W., Barton, Paul J. R., Cook, Stuart A., Prasad, Sanjay K., O’Regan, Declan P., van der Velden, Jolanda, Verweij, Karin J. H., Talajic, Mario, Lettre, Guillaume, Pinto, Yigal M., Meder, Benjamin, Charron, Philippe, de Boer, Rudolf A., Christiaans, Imke, Michels, Michelle, Wilde, Arthur A. M., Watkins, Hugh, Matthews, Paul M., Ware, James S., Bezzina, Connie R.
Publicat a Nat Genet (2021)