Recovery of cardiac function in cardiomyopathy caused by titin truncation

بواسطة Felkin L.E., Walsh R., Ware J.S., Yacoub M.H., Birks E.J., Barton P.J.R., Cook S.A.
منشور في 2018

Defining the genetic architecture of hypertrophic cardiomyopathy: Re-evaluating the role of non-sarcomeric genes

بواسطة Walsh R., Buchan R., Wilk A., John S., Felkin L.E., Thomson K.L., Chiaw T.H., Loong C.C.W., Pua C.J., Raphael C., Prasad S., Barton P.J., Funke B., Watkins H., Ware J.S., Cook S.A.
منشور في 2019

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

بواسطة Fatkin D., Lam L., Herman D.S., Benson C.C., Felkin L.E., Barton P.J.R., Walsh R., Candan S., Ware J.S., Roberts A.M., Chung W.K., Smoot L., Bornaun H., Keogh A.M., Macdonald P.S., Hayward C.S., Seidman J.G., Roberts A.E., Cook S.A., Seidman C.E.
منشور في 2019

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

بواسطة Horvat C., Johnson R., Lam L., Munro J., Mazzarotto F., Roberts A.M., Herman D.S., Parfenov M., Haghighi A., McDonough B., DePalma S.R., Keogh A.M., Macdonald P.S., Hayward C.S., Roberts A., Barton P.J.R., Felkin L.E., Giannoulatou E., Cook S.A., Seidman J.G., Seidman C.E., Fatkin D.
منشور في 2018

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

بواسطة Walsh, R., Mazzarotto, F., Whiffin, N., Buchan, R., Midwinter, W., Wilk, A., Li, N., Felkin, L., Ingold, N., Govind, R., Ahmad, M., Mazaika, E., Allouba, M., Zhang, X., De Marvao, A., Day, S.M., Ashley, E., Colan, S.D., Michels, M., Pereira, A.C., Jacoby, D., Ho, C.Y., Thomson, K.L., Watkins, H., Barton, P.J.R., Olivotto, I., Cook, S.A., Ware, J.S.
منشور في 2021

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy

بواسطة Heinig M., Adriaens M.E., Schafer S., van Deutekom H.W.M., Lodder E.M., Ware J.S., Schneider V., Felkin L.E., Creemers E.E., Meder B., Katus H.A., Rühle F., Stoll M., Cambien F., Villard E., Charron P., Varro A., Bishopric N.H., George A.L., dos Remedios C., Moreno-Moral A., Pesce F., Bauerfeind A., Rüschendorf F., Rintisch C., Petretto E., Barton P.J., Cook S.A., Pinto Y.M., Bezzina C.R., Hubner N.
منشور في 2019

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function

بواسطة McDermott-Roe C., Ye J., Ahmed R., Sun X.-M., Serafín A., Ware J., Bottolo L., Muckett P., Cañas X., Zhang J., Rowe G.C., Buchan R., Lu H., Braithwaite A., Mancini M., Hauton D., Martí R., García-Arumí E., Hubner N., Jacob H., Serikawa T., Zidek V., Papousek F., Kolar F., Cardona M., Ruiz-Meana M., García-Dorado D., Comella J.X., Felkin L.E., Barton P.J.R., Arany Z., Pravenec M., Petretto E., Sanchis D., Cook S.A.
منشور في 2018

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

بواسطة Roberts A.M., Ware J.S., Herman D.S., Schafer S., Baksi J., Bick A.G., Buchan R.J., Walsh R., John S., Wilkinson S., Mazzarotto F., Felkin L.E., Gong S., Macarthur J.A.L., Cunningham F., Flannick J., Gabriel S.B., Altshuler D.M., MacDonald P.S., Heinig M., Keogh A.M., Hayward C.S., Banner N.R., Pennell D.J., O'Regan D.P., San T.R., De Marvao A., Dawes T.J.W., Gulati A., Birks E.J., Yacoub M.H., Radke M., Gotthardt M., Wilson J.G., O'Donnell C.J., Prasad S.K., Barton P.J.R., Fatkin D., Hubner N., Seidman J.G., Seidman C.E., Cook S.A.
منشور في 2019