Browsing by Author Walsh R.

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Issue DateTitleAuthor(s)
2017A 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 HCM patients in EgyptKassem 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.
2015Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicityRuklisa D.; Ware J.S.; Walsh R.; Balding D.J.; Cook S.A. 
2018Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single centerMazzarotto 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.
2017Defining the genetic architecture of hypertrophic cardiomyopathy: Re-evaluating the role of non-sarcomeric genesWalsh 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. 
2014Detection of mutations in KLHL3 and CUL3 in families with fhht (familial hyperkalaemic hypertension or gordon's syndrome)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.
2016Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition GenesPua 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. 
2018Genetic Etiology for Alcohol-Induced Cardiac ToxicityWare 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.
2015Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and diseaseRoberts 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. 
2017Issues and challenges in diagnostic sequencing for inherited cardiac conditionsWalsh R.; Cook S.A. 
2016Moderate physical activity in healthy adults is associated with cardiac remodelingDawes T.J.W.; Corden B.; Cotter S.; De Marvao A.; Walsh R.; Ware J.S.; Cook S.A. ; O'Regan D.P.
2014NECTAR: A database of codon-centric missense variant annotationsGong S.; Ware J.S.; Walsh R.; Cook S.A. 
2012Paralogous annotation of disease-causing variants in long QT syndrome genesWare J.S.; Walsh R.; Cunningham F.; Birney E.; Cook S.A. 
2014Paralogue annotation identifies novel pathogenic variants in patients with brugada syndrome and catecholaminergic polymorphic ventricular tachycardiaWalsh R.; Peters N.S.; Cook S.A. ; Ware J.S.
2017Phenotype and Clinical Outcomes of Titin CardiomyopathyTayal 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. 
2017Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesWalsh 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.
2016Recovery of cardiac function in cardiomyopathy caused by titin truncationFelkin L.E.; Walsh R.; Ware J.S.; Yacoub M.H.; Birks E.J.; Barton P.J.R.; Cook S.A. 
2016Titin truncating mutations: A rare cause of dilated cardiomyopathy in the youngFatkin D.; Lam L.; Herman D.S.; Benson C.C.; Felkin L.E.; Barton P.J.R.; Walsh R.; Candan S.; Ware J.S.; Roberts A.M.; Chung W.K.; Smoot L.; Bornaun H.; Keogh A.M.; Macdonald P.S.; Hayward C.S.; Seidman J.G.; Roberts A.E.; Cook S.A. ; Seidman C.E.
2017Titin-truncating variants affect heart function in disease cohorts and the general populationSchafer S. ; De Marvao A.; Adami E.; Fiedler L.R. ; Ng B.; Khin E. ; Rackham O.J.L. ; Van Heesch S.; Pua C.J.; Kui M.; Walsh R.; Tayal U.; Prasad S.K.; Dawes T.J.W.; Ko N.S.J.; Sim D.; Chan L.L.H.; Chin C.W.L. ; Mazzarotto F.; Barton P.J.; Kreuchwig F.; De Kleijn D.P.V. ; Totman T. ; Biffi C.; Tee N.; Rueckert D.; Schneider V.; Faber A.; Regitz-Zagrosek V.; Seidman J.G.; Seidman C.E.; Linke W.A.; Kovalik J.-P. ; O'Regan D.; Ware J.S.; Hubner N.; Cook S.A. 
2013Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA SequencersLi 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.
2017Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated CardiomyopathyTayal U.; Newsome S.; Buchan R.; Whiffin N.; Walsh R.; Barton P.J.; Ware J.S.; Cook S.A. ; Prasad S.K.