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

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

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

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

بواسطة 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.
منشور في 2019

Using high-resolution variant frequencies to empower clinical genome interpretation

بواسطة 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.
منشور في 2019

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

بواسطة 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.
منشور في 2019

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

بواسطة 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
منشور في 2020

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

Truncations of titin causing dilated cardiomyopathy

بواسطة 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.
منشور في 2018

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

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

بواسطة 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.
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