Role of titin in cardiomyopathy: From DNA variants to patient stratification

由 Ware J.S., Cook S.A.
出版 2018

Integrative genomics in cardiovascular medicine

由 Ware J.S., Petretto E., Cook S.A.
出版 2018

Republished review: Next generation sequencing for clinical diagnostics and personalised medicine: Implications for the next generation cardiologist

由 Ware J.S., Roberts A.M., Cook S.A.
出版 2018

NECTAR: A database of codon-centric missense variant annotations

由 Gong S., Ware J.S., Walsh R., Cook S.A.
出版 2018

Next generation sequencing for clinical diagnostics and personalised medicine: Implications for the next generation cardiologist

由 Ware J.S., Roberts A.M., Cook S.A.
出版 2018

Paralogue annotation identifies novel pathogenic variants in patients with brugada syndrome and catecholaminergic polymorphic ventricular tachycardia

由 Walsh R., Peters N.S., Cook S.A., Ware J.S.
出版 2018

Paralogous annotation of disease-causing variants in long QT syndrome genes

由 Ware J.S., Walsh R., Cunningham F., Birney E., Cook S.A.
出版 2018

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity

由 Ruklisa D., Ware J.S., Walsh R., Balding D.J., Cook S.A.
出版 2018

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

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

Moderate physical activity in healthy adults is associated with cardiac remodeling

由 Dawes T.J.W., Corden B., Cotter S., De Marvao A., Walsh R., Ware J.S., Cook S.A., O'Regan D.P.
出版 2018

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

由 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.
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

Cloning and expression of the ApaLI, NspI, NspHI, SacI, ScaI, and SapI restriction-modification systems in Escherichia coli

由 Xu, S.-Y., Xiao, J.-P., Ettwiller, L., Dalton, M., Robinson, D.P., Petronzio, T.R., Moran, L., Ganatra, M., Ware, J., Slatko, B., Benner, J., Holden, M., Aliotta, J., Poh, C.L.
出版 2012

Detection of mutations in KLHL3 and CUL3 in families with fhht (familial hyperkalaemic hypertension or gordon's syndrome)

由 Glover M., Ware J.S., Henry A., Wolley M., Walsh R., Wain L.V., Xu S., Hoff W.G.V., Tobin M.D., Hall I.P., Cook S., Gordon R.D., Stowasser M., O'shaughnessy K.M.
出版 2019

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

由 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.
出版 2019

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

由 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.
出版 2019

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

由 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.
出版 2019

Phenotypic and pharmacogenetic evaluation of patients with thiazide-induced hyponatremia

由 Ware J.S., Wain L.V., Channavajjhala S.K., Jackson V.E., Edwards E., Lu R., Siew K., Jia W., Shrine N., Kinnear S., Jalland M., Henry A.P., Clayton J., O'Shaughnessy K.M., Tobin M.D., Schuster V.L., Cook S., Hall I.P., Glover M.
出版 2019