Genotype positive hypertrophic cardiomyopathy is associated with myocardial perfusion abnormalities

di 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
Pubblicazione 2014

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

di 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
Pubblicato in Glob Cardiol Sci Pract (2015)

Titin: a phenotype-genotype descriptive comparison of dilated cardiomyopathy

di 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
Pubblicazione 2014

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

di 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.
Pubblicato in Cold Spring Harb Mol Case Stud (2017)

Genetic Etiology for Alcohol-Induced Cardiac Toxicity

di 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
Pubblicato in J Am Coll Cardiol (2018)

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

di 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
Pubblicato in Circulation (2020)

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

di 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.
Pubblicato in Sci Transl Med (2015)

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

di 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.
Pubblicato in Circ Genom Precis Med (2020)

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

di 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.
Pubblicato in Nat Genet (2021)