MicroRNA-223 regulates Glut4 expression and cardiomyocyte glucose metabolism

بواسطة Lu H., Buchan R.J., Cook S.A.
منشور في 2018

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

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

Next generation diagnostics in inherited arrhythmia syndromes: A comparison of two approaches

بواسطة Ware J.S., John S., Roberts A.M., Buchan R., Gong S., Peters N.S., Robinson D.O., Lucassen A., Behr E.R., Cook S.A.
منشور في 2018

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...

بواسطة 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.
منشور في 2019

Three-dimensional cardiovascular imaging-genetics: A mass univariate framework

بواسطة Biffi C., De Marvao A., Attard M.I., Dawes T.J.W., Whiffin N., Bai W., Shi W., Francis C., Meyer H., Buchan R., Cook S.A., Rueckert D., O'Regan D.P.
منشور في 2019

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

بواسطة 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.
منشور في 2019

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

بواسطة 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.
منشور في 2019

Phenotype and Clinical Outcomes of Titin Cardiomyopathy

بواسطة 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.
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

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

بواسطة 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.
منشور في 2021

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

Genetic Etiology for Alcohol-Induced Cardiac Toxicity

بواسطة 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.
منشور في 2019

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

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

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk

بواسطة Heinig M., Petretto E., Wallace C., Bottolo L., Rotival M., Lu H., Li Y., Sarwar R., Langley S.R., Bauerfeind A., Hummel O., Lee Y.-A., Paskas S., Rintisch C., Saar K., Cooper J., Buchan R., Gray E.E., Cyster J.G., Jeanette Erdmann, Hengstenberg C., Maouche S., Ouwehand W.H., Rice C.M., Samani N.J., Schunkert H., Goodall A.H., Schulz H., Roider H.G., Vingron M., Blankenberg S., M�nzel T., Zeller T., Szymczak S., Ziegler A., Tiret L., Smyth D.J., Pravenec M., Aitman T.J., Cambien F., Clayton D., Todd J.A., Hubner N., Cook S.A., Braund P., Gracey J., Krishnan U., Moore J.S., Nelson C.P., Pollard H., Attwood T., Crisp-Hihn A., Foad N., Jolley J., Lloyd-Jones H., Muir D., Murray E., O'Leary K., Rankin A., Sambrook J., Godfroy T., Brocheton J., Proust C., Schmitz G., Heimerl S., Lugauer I., Belz S., Gulde S., Linsel-Nitschke P., Sager H., Schroeder L., Lundmark P., Syvannen A.-C., Neudert J., Scholz M., Deloukas P., Gray E., Gwilliams R., Niblett D.
منشور في 2018