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

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

Recovery of cardiac function in cardiomyopathy caused by titin truncation

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

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

由 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.
出版 2019

Using high-resolution variant frequencies to empower clinical genome interpretation

由 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.
出版 2019

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

由 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.
出版 2019

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

由 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
出版 2020

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

由 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.
出版 2019

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

由 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.
出版 2018

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

由 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.
出版 2021

Truncations of titin causing dilated cardiomyopathy

由 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.
出版 2018

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

由 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.
出版 2018

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

由 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.
出版 2018

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

由 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.
出版 2019