Recovery of cardiac function in cardiomyopathy caused by titin truncation

by Felkin L.E., Walsh R., Ware J.S., Yacoub M.H., Birks E.J., Barton P.J.R., Cook S.A.
Published 2018

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

by Gatto A., Torroja-Fungairiño C., Mazzarotto F., Cook S.A., Barton P.J.R., Sánchez-Cabo F., Lara-Pezzi E.
Published 2018

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

by Li X., Buckton A.J., Wilkinson S.L., John S., Walsh R., Novotny T., Valaskova I., Gupta M., Game L., Barton P.J.R., Cook S.A., Ware J.S.
Published 2019

Using high-resolution variant frequencies to empower clinical genome interpretation

by Whiffin N., Minikel E., Walsh R., O'Donnell-Luria A.H., Karczewski K., Ing A.Y., Barton P.J.R., Funke B., Cook S.A., Macarthur D., Ware J.S.
Published 2019

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing

by Maatz H., Jens M., Liss M., Schafer S., Heinig M., Kirchner M., Adami E., Rintisch C., Dauksaite V., Radke M.H., Selbach M., Barton P.J.R., Cook S.A., Rajewsky N., Gotthardt M., Landthaler M., Hubner N.
Published 2019

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

by Whiffin, N, Walsh, R, Govind, R, Edwards, M, Ahmad, M, Zhang, X, Tayal, U, Buchan, R, Midwinter, W, Wilk, A.E, Najgebauer, H, Francis, C, Wilkinson, S, Monk, T, Brett, L, O’Regan, D.P, Prasad, S.K, Morris-Rosendahl, D.J, Barton, P.J.R, Edwards, E, Ware, J.S, Cook, S.A
Published 2020

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

by 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.
Published 2019

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

by 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.
Published 2018

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

by 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.
Published 2021

Truncations of titin causing dilated cardiomyopathy

by Herman D.S., Lam L., Taylor M.R.G., Wang L., Teekakirikul P., Christodoulou D., Conner L., DePalma S.R., McDonough B., Sparks E., Teodorescu D.L., Cirino A.L., Banner N.R., Pennell D.J., Graw S., Merlo M., Di Lenarda A., Sinagra G., Bos J.M., Ackerman M.J., Mitchell R.N., Murry C.E., Lakdawala N.K., Ho C.Y., Barton P.J.R., Cook S.A., Mestroni L., Seidman J.G., Seidman C.E.
Published 2018

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

by McDermott-Roe C., Ye J., Ahmed R., Sun X.-M., Seraf�n A., Ware J., Bottolo L., Muckett P., Ca�as X., Zhang J., Rowe G.C., Buchan R., Lu H., Braithwaite A., Mancini M., Hauton D., Mart� R., Garc�-Arum� E., Hubner N., Jacob H., Serikawa T., Zidek V., Papousek F., Kolar F., Cardona M., Ruiz-Meana M., Garc�a-Dorado D., Comella J.X., Felkin L.E., Barton P.J.R., Arany Z., Pravenec M., Petretto E., Sanchis D., Cook S.A.
Published 2018

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

by Villard E., Perret C., Gary F., Proust C., Dilanian G., Hengstenberg C., Ruppert V., Arbustini E., Wichter T., Germain M., Dubourg O., Tavazzi L., Aumont M.-C., De Groote P., Fauchier L., Trochu J.-N., Gibelin P., Aupetit J.-F., Stark K., Erdmann J., Hetzer R., Roberts A.M., Barton P.J.R., Regitz-Zagrosek V., Consortium C., Aslam U., Duboscq-Bidot L., Meyborg M., Maisch B., Madeira H., Waldenström A., Galve E., Cleland J.G., Dorent R., Roizes G., Zeller T., Blankenberg S., Goodall A.H., Cook S., Tregouet D.A., Tiret L., Isnard R., Komajda M., Charron P., Cambien F.
Published 2018

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

by 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.
Published 2019