Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy

by Tayal U., Newsome S., Buchan R., Whiffin N., Walsh R., Barton P.J., Ware J.S., Cook S.A., Prasad S.K.
Published 2018

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

A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of...

by Kassem H.S., Walsh R., Barton P.J., Abdelghany B.S., Azer R.S., Buchan R., John S., Elguindy A., Moharem-ElGamal S., Badran H.M., Shehata H., Cook S.A., Yacoub M.H.
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

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

by 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.
Published 2019

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

by Pua C.J., Bhalshankar J., Miao K., Walsh R., John S., Lim S.Q., Chow K., Buchan R., Soh B.Y., Lio P.M., Lim J., Schafer S., Lim J.Q., Tan P., Whiffin N., Barton P.J., Ware J.S., Cook S.A.
Published 2019

Involvement of BAG3 and HSPB7 loci in various etiologies of systolic heart failure: Results of a European collaboration assembling more than 2000 patients

by Garnier S., Hengstenberg C., Lamblin N., Dubourg O., De Groote P., Fauchier L., Trochu J.-N., Arbustini E., Esslinger U., Barton P.J., Meder B., Katus H., Frese K., Komajda M., Cook S.A., Isnard R., Tiret L., Villard E., Charron P.
Published 2019

Phenotype and Clinical Outcomes of Titin Cardiomyopathy

by Tayal U., Newsome S., Buchan R., Whiffin N., Halliday B., Lota A., Roberts A., Baksi A.J., Voges I., Midwinter W., Wilk A., Govind R., Walsh R., Daubeney P., Jarman J.W.E., Baruah R., Frenneaux M., Barton P.J., Pennell D., Ware J.S., Prasad S.K., Cook S.A.
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

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy

by Arndt A.-K., Schafer S., Drenckhahn J.-D., Sabeh M.K., Plovie E.R., Caliebe A., Klopocki E., Musso G., Werdich A.A., Kalwa H., Heinig M., Padera R.F., Wassilew K., Bluhm J., Harnack C., Martitz J., Barton P.J., Greutmann M., Berger F., Hubner N., Siebert R., Kramer H.-H., Cook S.A., Macrae C.A., Klaassen S.
Published 2019

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort

by Aguib, Y., Allouba, M., Afify, A., Halawa, S., El-Khatib, M., Sous, M., Galal, A., Abdelrahman, E., Shehata, N., El Sawy, A., Elmaghawry, M., Anwer, S., Kamel, O., El Mozy, W., Khedr, H., Kharabish, A., Thabet, N., Theotokis, P.I., Buchan, R., Govind, R., Whiffin, N., Walsh, R., Aguib, H., Elguindy, A., O?Regan, D.P., Cook, S.A., Barton, P.J., Ware, J.S., Yacoub, M.
Published 2021

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

Genetic Etiology for Alcohol-Induced Cardiac Toxicity

by Ware J.S., Amor-Salamanca A., Tayal U., Govind R., Serrano I., Salazar-Mendiguchía J., García-Pinilla J.M., Pascual-Figal D.A., Nuñez J., Guzzo-Merello G., Gonzalez-Vioque E., Bardaji A., Manito N., López-Garrido M.A., Padron-Barthe L., Edwards E., Whiffin N., Walsh R., Buchan R.J., Midwinter W., Wilk A., Prasad S., Pantazis A., Baski J., O'Regan D.P., Alonso-Pulpon L., Cook S.A., Lara-Pezzi E., Barton P.J., Garcia-Pavia P.
Published 2019

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

by 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.
Published 2019

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