Genotype positive hypertrophic cardiomyopathy is associated with myocardial perfusion abnormalities

Por 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
Publicado em 2014

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

Por 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
Publicado no Glob Cardiol Sci Pract (2015)

Titin: a phenotype-genotype descriptive comparison of dilated cardiomyopathy

Por 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
Publicado em 2014

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 no Cold Spring Harb Mol Case Stud (2017)

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

Por 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.
Publicado no Sci Transl Med (2015)