Issues and challenges in diagnostic sequencing for inherited cardiac conditions

by Walsh R., Cook S.A.
Published 2018

Population diversity in oncology drug responses and implications to drug development

by Walsh, R., Goh, B.-C.
Published 2021

NECTAR: A database of codon-centric missense variant annotations

by Gong S., Ware J.S., Walsh R., Cook S.A.
Published 2018

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

by Walsh R., Peters N.S., Cook S.A., Ware J.S.
Published 2018

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

by Ware J.S., Walsh R., Cunningham F., Birney E., Cook S.A.
Published 2018

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

by Ruklisa D., Ware J.S., Walsh R., Balding D.J., Cook S.A.
Published 2018

Hydrological dynamics of tropical streams on a gradient of land-use disturbance and recovery: A multi-catchment experiment

by Nainar, A., Tanaka, N., Bidin, K., Annammala, K. V., Ewers, R. M., Reynolds, G., Walsh, R. P. D.
Published 2018

The role of extreme events in the impacts of selective tropical forestry on erosion during harvesting and recovery phases at Danum Valley, Sabah

by Douglas, I., Bidin, K., Balamurugan, G., Chappell, N.A., Walsh, R.P.D., Greer, T., Sinun, W.
Published 2011

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

Moderate physical activity in healthy adults is associated with cardiac remodeling

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

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

by 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.
Published 2019

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

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

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

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

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