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

بواسطة Ware J.S., Cook S.A.
منشور في 2018

Integrative genomics in cardiovascular medicine

بواسطة Ware J.S., Petretto E., Cook S.A.
منشور في 2018

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

بواسطة Ware J.S., Roberts A.M., Cook S.A.
منشور في 2018

NECTAR: A database of codon-centric missense variant annotations

بواسطة Gong S., Ware J.S., Walsh R., Cook S.A.
منشور في 2018

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

بواسطة Ware J.S., Roberts A.M., Cook S.A.
منشور في 2018

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

بواسطة Walsh R., Peters N.S., Cook S.A., Ware J.S.
منشور في 2018

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

بواسطة Ware J.S., Walsh R., Cunningham F., Birney E., Cook S.A.
منشور في 2018

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

بواسطة Ruklisa D., Ware J.S., Walsh R., Balding D.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

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

Moderate physical activity in healthy adults is associated with cardiac remodeling

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

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

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

بواسطة 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.
منشور في 2012

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

بواسطة 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.
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

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

بواسطة 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.
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

Phenotypic and pharmacogenetic evaluation of patients with thiazide-induced hyponatremia

بواسطة 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.
منشور في 2019