Population diversity in oncology drug responses and implications to drug development

بواسطة Walsh, R., Goh, B.-C.
منشور في 2021

Issues and challenges in diagnostic sequencing for inherited cardiac conditions

بواسطة Walsh R., 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

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

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

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

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

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

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

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 diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

بواسطة 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.
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

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