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

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

by Mazzarotto F., Girolami F., Boschi B., Barlocco F., Tomberli A., Baldini K., Coppini R., Tanini I., Bardi S., Contini E., Cecchi F., Pelo E., Cook S.A., Cerbai E., Poggesi C., Torricelli F., Walsh R., Olivotto I.
Published 2019

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

by Walsh R., Thomson K.L., Ware J.S., Funke B.H., Woodley J., McGuire K.J., Mazzarotto F., Blair E., Seller A., Taylor J.C., Minikel E.V., MacArthur D.G., Farrall M., Cook S.A., Watkins H.
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

Shared genetic predisposition in Peripartum and dilated cardiomyopathies

by Ware J.S., Li J., Mazaika E., Yasso C.M., De Souza T., Cappola T.P., Tsai E.J., Hilfiker-Kleiner D., Kamiya C.A., Mazzarotto F., Cook S.A., Halder I., Prasad S.K., Pisarcik J., Hanley-Yanez K., Alharethi R., Damp J., Hsich E., Elkayam U., Sheppard R., Kealey A., Alexis J., Ramani G., Safirstein J., Boehmer J., Pauly D.F., Wittstein I.S., Thohan V., Zucker M.J., Liu P., Gorcsan J., III, McNamara D.M., Seidman C.E., Seidman J.G., Arany Z.
Published 2019

Titin-truncating variants affect heart function in disease cohorts and the general population

by Schafer S., De Marvao A., Adami E., Fiedler L.R., Ng B., Khin E., Rackham O.J.L., Van Heesch S., Pua C.J., Kui M., Walsh R., Tayal U., Prasad S.K., Dawes T.J.W., Ko N.S.J., Sim D., Chan L.L.H., Chin C.W.L., Mazzarotto F., Barton P.J., Kreuchwig F., De Kleijn D.P.V., Totman T., Biffi C., Tee N., Rueckert D., Schneider V., Faber A., Regitz-Zagrosek V., Seidman J.G., Seidman C.E., Linke W.A., Kovalik J.-P., O'Regan D., Ware J.S., Hubner N., Cook S.A.
Published 2019

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