Prof Stuart Alexander Cook

Prof Stuart Cook is the Tanoto Foundation Professor of Cardiovascular Medicine at the SingHealth Duke-NUS Academic Medical Centre, and a Distinguished Clinician Scientist and Senior Consultant with the Department of Cardiology at the National Heart Centre Singapore (NHCS). He was the former Director of the Cardiovascular and Metabolic Disorders Programme at Duke-NUS Medical School.

Prof Cook's sub-specialty interest is in Cardiac Magnetic Resonance Imaging (MRI). He is an internationally recognised expert in cardiovascular research, and his research focuses on cardiovascular genetics and genomics. In October 2012, he received the prestigious STaR Investigator Award from the National Medical Research Council for his outstanding qualifications in translational and clinical research.

• ​Genetics and heart muscle disease
• Application of new imaging and sequencing technologies to diagnose and treat heart disease

• Garcia-Pavia P, Kim Y, Alejandra Restrepo-Cordoba M, Lunde IG, Wakimoto H, Smith AM, Toepfer CN, Getz K, Gorham J, Patel P, Ito K, Willcox JA, Arany Z, Li J, Owens AT, Govind R, Nuñez B, Mazaika E, Bayes-Genis A, Walsh R, Finkelman B, Lupon J, Whiffin N, Serrano I, Midwinter W, Wilk A, Bardaji A, Ingold N, Buchan R, Tayal U, Pascual-Figal DA, de Marvao A, Ahmad M, Garcia-Pinilla JM, Pantazis A, Dominguez F, Baksi AJ, O'Regan DP, Rosen SD, Prasad SK, Lara-Pezzi E, Provencio M, Lyon AR, Alonso-Pulpon L, Cook SA, DePalma SR, Barton PJR, Aplenc R, Seidman JG, Ky B, Ware JS, Seidman CE. Genetic Variants Associated with Cancer Therapy-Induced Cardiomyopathy. Circulation. 2019 Apr 16. doi: 10.1161/CIRCULATIONAHA.118.037934. PMID: 30987448
• Yap L, Wang JW, Moreno-Moral A, Chong LY, Sun Y, Harmston N, Wang X, Chong SY, Öhman MK, Wei H, Bunte R, Gosh S, Cook S, Hovatta O, de Kleijn DPV, Petretto E, Tryggvason K. In Vivo Generation of Post-infarct Human Cardiac Muscle by Laminin-Promoted Cardiovascular Progenitors. Cell Reports. 2019 Mar 19;26(12):3231-3245.e9. doi: 10.1016/j.celrep.2019.02.083
• Bello GA, Dawes TJW, Duan J, Biffi C, de Marvao A, Howard LSGE, Gibbs JSR, Wilkins MR, Cook SA, Rueckert D, O'Regan DP. Deep learning cardiac motion analysis for human survival prediction. Nature Machine Intelligence. 2019 Feb 11;1:95-104. doi: 10.1038/s42256-019-0019-2. PMID: 30801055
• Zhou J, Ng B, Ko NSJ, Fiedler LR, Khin E, Lim A, Sahib NE, Wu Y, Chothani SP, Schafer S, Bay BH, Sinha RA, Cook SA, Yen PM. Titin truncations lead to impaired cardiomyocyte autophagy and mitochondrial function in vivo. Human Molecular Genetics. 2019 Feb 4. doi: 10.1093/hmg/ddz033. PMID: 30715350
• Miles C, Finocchiaro G, Papadakis M, Gray B, Westaby J, Ensam B, Basu J, Parry-Williams G, Papatheodorou E, Paterson C, Malhotra A, Robertus JL, Ware JS, Cook SA, Asimaki A, Witney A, Chis Ster I, Tome M, Sharma S, Behr ER, Sheppard MN. Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy. Circulation. 2019 Jan 31. doi: 10.1161/CIRCULATIONAHA.118.037230. PMID: 30700137
• Walsh R, Mazzarotto F, Whiffin N, Buchan R, Midwinter W, Wilk A, Li N, Felkin L, Ingold N, Govind R, Ahmad M, Mazaika E, Allouba M, Zhang X, de Marvao A, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Thomson KL, Watkins H, Barton PJR, Olivotto I, Cook SA, Ware JS. Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy. Genome Medicine. 2019 Jan 29;11(1):5. doi: 10.1186/s13073-019-0616-z. PMID:30696458
• Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. American Journal of Human Genetics. 2019 Jan 3;104(1):187-190. doi: 10.1016/j.ajhg.2018.11.012. PMID: 30609406
• Domínguez F, Cuenca S, Bilińska Z, Toro R, Villard E, Barriales-Villa R, Ochoa JP, Asselbergs F, Sammani A, Franaszczyk M, Akhtar M, Coronado-Albi MJ, Rangel-Sousa D, Rodriguez-Palomares JF, Jiménez-Jáimez J, Garcia-Pinilla JM, Ripoll-Vera T, Mogollón-Jiménez MV, Fontalba-Romero A, Garcia-Medina D, Palomino-Doza J, de Gonzalo-Calvo D, Cicerchia M, Salazar-Mendiguchia J, Salas C, Pankuweit S, Hey TM, Mogensen J, Barton PJ, Charron P, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations. Journal of American College of Cardiology. 2018 Nov 13;72(20):2471-2481. doi: 10.1016/j.jacc.2018.08.2181. PMID: 30442290
• Halliday BP, Wassall R, Lota AS, Khalique Z, Gregson J, Newsome S, Jackson R, Rahneva T, Wage R, Smith G, Venneri L, Tayal U, Auger D, Midwinter W, Whiffin N, Rajani R, Dungu JN, Pantazis A, Cook SA, Ware JS, Baksi AJ, Pennell DJ, Rosen SD, Cowie MR, Cleland JGF, Prasad SK. Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trial.  Lancet. 2019 Jan 5;393(10166):61-73. doi: 10.1016/S0140-6736(18)32484-X. Epub 2018 Nov 11. PMID: 30429050
• Dawes TJW, de Marvao A, Shi W, Rueckert D, Cook SA, O'Regan DP. Identifying the optimal regional predictor of right ventricular global function: a high-resolution three-dimensional cardiac magnetic resonance study. Anaesthesia. 2018 Nov 14. doi: 10.1111/anae.14494.
• Halliday BP, Baksi AJ, Gulati A, Ali A, Newsome S, Izgi C, Arzanauskaite M, Lota A, Tayal U, Vassiliou VS, Gregson J, Alpendurada F, Frenneaux MP, Cook SA, Cleland JGF, Pennell DJ, Prasad SK. Outcome in Dilated Cardiomyopathy Related to the Extent, Location, and Pattern of Late Gadolinium Enhancement. JACC Cardiovasc Imaging. 2018 Sep 6. pii: S1936-878X(18)30670-3. doi: 10.1016/j.jcmg.2018.07.015. PMID: 30219397
• Ye L, Su L, Wang C, Loo S, Tee G, Tan S, Khin SW, Ko S, Su B, Cook SA. Truncations of the titin Z-disc predispose to a heart failure with preserved ejection phenotype in the context of pressure overload. PLoS One. 2018 Jul 31;13(7):e0201498. doi: 10.1371/journal.pone.0201498. eCollection 2018. PMID: 30063764
• Ma D, Liu Z, Loh LJ, Zhao Y, Li G, Liew R, Islam O, Wu J, Chung YY, Teo WS, Ching CK, Tan BY, Chong D, Ho KL, Lim P, Yong RYY, Panama BK, Kaplan AD, Bett GCL, Ware J, Bezzina CR, Verkerk AO, Cook SA, Rasmusson RL, Wei H. Identification of an INa-dependent and Ito-mediated proarrhythmic mechanism in cardiomyocytes derived from pluripotent stem cells of a Brugada syndrome patient. Sci Rep. 2018 Jul 26;8(1):11246. doi: 10.1038/s41598-018-29574-5. PMID: 30050137
• Ye L, D'Agostino G, Loo SJ, Wang CX, Su LP, Tan SH, Tee GZ, Pua CJ, Pena EM, Cheng RB, Chen WC, Abdurrachim D, Lalic J, Tan RS, Lee TH, Zhang J, Cook SA. Early Regenerative Capacity in the Porcine Heart. Circulation. Dec 11;138(24):2798-2808. doi: 10.1161/CIRCULATIONAHA.117.031542. PMID:30030417
• Horvat C, Johnson R, Lam L, Munro J, Mazzarotto F, Roberts AM, Herman DS, Parfenov M, Haghighi A, McDonough B, DePalma SR, Keogh AM, Macdonald PS, Hayward CS, Roberts A, Barton PJR, Felkin LE, Giannoulatou E, Cook SA, Seidman JG, Seidman CE, Fatkin D. A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy. Genetic Medicine. 2018 Jun 11. doi: 10.1038/s41436-018-0036-2.  PMID: 29892087
• 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 SA, Cerbai E, Poggesi C, Torricelli F, Walsh R, Olivotto I. 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. Genetic Medicine. 2018 Jun 6. doi: 10.1038/s41436-018-0046-0.  PMID: 29875424
• Dawes TJW, Cai J, Quinlan M, de Marvao A, Ostrowski PJ, Tokarczuk PF, Watson GMJ, Wharton J, Howard LSGE, Gibbs JSR, Cook SA, Wilkins MR, O'Regan DP. Fractal Analysis of Right Ventricular Trabeculae in Pulmonary Hypertension. Radiology. 2018 Jun 5:172821. doi: 10.1148/radiol.2018172821.  PMID: 29869959
• Halliday BP, Gulati A, Ali A, Newsome S, Lota A, Tayal U, Vassiliou VS, Arzanauskaite M, Izgi C, Krishnathasan K, Singhal A, Chiew K, Gregson J, Frenneaux MP, Cook SA, Pennell DJ, Collins P, Cleland JGF, Prasad SK. Sex- and age-based differences in the natural history and outcome of dilated cardiomyopathy. European Journal of Heart Failure. 2018 Jun 3. doi: 10.1002/ejhf.1216. PMID: 29862606
• Ware JS, Amor-Salamanca A, Tayal U, Govind R, Serrano I, Salazar-Mendiguchía J, García-Pinilla JM, Pascual-Figal DA, Nuñez J, Guzzo-Merello G, Gonzalez-Vioque E, Bardaji A, Manito N, López-Garrido MA, Padron-Barthe L, Edwards E, Whiffin N, Walsh R, Buchan RJ, Midwinter W, Wilk A, Prasad S, Pantazis A, Baski J, O'Regan DP, Alonso-Pulpon L, Cook SA, Lara-Pezzi E, Barton PJ, Garcia-Pavia P. Genetic Etiology for Alcohol-Induced Cardiac Toxicity. Journal of American College of Cardiology. 2018 May 22;71(20):2293-2302. doi: 10.1016/j.jacc.2018.03.462. PMID: 29773157
• Lim WK, Davila S, Teo JX, Yang C, Pua CJ, Blöcker C, Lim JQ, Ching J, Yap JJL, Tan SY, Sahlén A, Chin CW, Teh BT, Rozen SG, Cook SA, Yeo KK, Tan P. Beyond fitness tracking: The use of consumer-grade wearable data from normal volunteers in cardiovascular and lipidomics research. PLoS Biol. 2018 Feb 27;16(2):e2004285. doi: 10.1371/journal.pbio.2004285. eCollection 2018 Feb. PMID: 29485983
• Lim EH, Le TT, Bryant J, Chung YC, Su B, Gan J, Hausenloy DJ, Cook SA, Chin CWL. Importance of Sex-Specific Regression Models to Estimate Synthetic Hematocrit and Extracellular Volume Fraction. JACC Cardiovasc Imaging. 2018 Feb 9. pii: S1936-878X(17)31177-4. doi: 10.1016/j.jcmg.2017.11.035. PMID: 29454764
• Whiffin N, Walsh R, Govind R, Edwards M, Ahmad M, Zhang X, Tayal U, Buchan R, Midwinter W, Wilk AE, Najgebauer H, Francis C, Wilkinson S, Monk T, Brett L, O'Regan DP, Prasad SK, Morris-Rosendahl DJ, Barton PJR, Edwards E, Ware JS, Cook SA. CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. Genetic Medicine. 2018 Jan 25. doi: 10.1038/gim.2017.258. PMID:29369293
• Schafer S, Viswanathan S, Widjaja AA, Lim WW, Moreno-Moral A, DeLaughter DM, Ng B, Patone G, Chow K, Khin E, Tan J, Chothani SP, Ye L, Rackham OJL, Ko NSJ, Sahib NE, Pua CJ, Zhen NTG, Xie C, Wang M, Maatz H, Lim S, Saar K, Blachut S, Petretto E, Schmidt S, Putoczki T, Guimarães-Camboa N, Wakimoto H, van Heesch S, Sigmundsson K, Lim SL, Soon JL, Chao VTT, Chua YL, Tan TE, Evans SM, Loh YJ, Jamal MH, Ong KK, Chua KC, Ong BH, Chakaramakkil MJ, Seidman JG, Seidman CE, Hubner N, Sin KYK, Cook SA. IL-11 is a crucial determinant of cardiovascular fibrosis. Nature. 2017 Dec 7;552(7683):110-115. doi: 10.1038/nature24676. PMID: 29160304
• Zhang S, Le TT, Kabus S, Su B, Hausenloy DJ, Cook SA, Chin CWL, Tan RS. Cardiac magnetic resonance T1 and extracellular volume mapping with motion correction and co-registration based on fast elastic image registration. MAGMA. 2017 Dec 21. doi: 10.1007/s10334-017-0668-2. PMID:29270904
• Ware JS, Cook SA. Role of titin in cardiomyopathy: from DNA variants to patient stratification. Nature Reviews Cardiology. 2017 Dec 14. doi: 10.1038/nrcardio.2017.190. PMID: 29238064
• Cai J, Bryant JA, Le TT, Su B, de Marvao A, O'Regan DP, Cook SA, Chin CW. Fractal analysis of left ventricular trabeculations is associated with impaired myocardial deformation in healthy Chinese. J Cardiovasc Magn Reson. 2017 Dec 14;19(1):102. doi: 10.1186/s12968-017-0413-z. PMID: 29241460
• Tayal U, Newsome S, Buchan R, Whiffin N, Halliday B, Lota A, Roberts A, Baksi AJ, Voges I, Midwinter W, Wilk A, Govind R, Walsh R, Daubeney P, Jarman JWE, Baruah R, Frenneaux M, Barton PJ, Pennell D, Ware JS, Prasad SK, Cook SA. Phenotype and Clinical Outcomes of Titin Cardiomyopathy. Journal of American College of Cardiology. 2017 Oct 31;70(18):2264-2274. doi: 10.1016/j.jacc.2017.08.063. PMID: 29073955
• Biffi C, de Marvao A, Attard MI, Dawes TJW, Whiffin N, Bai W, Shi W, Francis C, Meyer H, Buchan R, Cook SA, Rueckert D, O'Regan DP. Three-dimensional Cardiovascular Imaging-Genetics: A Mass Univariate Framework. Bioinformatics. 2017 Sep 4. doi: 10.1093/bioinformatics/btx552. PMID: 28968671
• Ware JS, Wain LV, Channavajjhala SK, Jackson VE, Edwards E, Lu R, Siew K, Jia W, Shrine N, Kinnear S, Jalland M, Henry AP, Clayton J, O'Shaughnessy KM, Tobin MD, Schuster VL, Cook S, Hall IP, Glover M. Phenotypic and pharmacogenetic evaluation of patients with thiazide-induced hyponatremia. Journal of Clinical Investigation. 2017 Sep 1;127(9):3367-3374. doi: 10.1172/JCI89812. PMID: 28783044
• Heinig M, Adriaens ME, Schafer S, van Deutekom HWM, Lodder EM, Ware JS, Schneider V, Felkin LE, Creemers EE, Meder B, Katus HA, Rühle F, Stoll M, Cambien F, Villard E, Charron P, Varro A, Bishopric NH, George AL Jr, Dos Remedios C, Moreno-Moral A, Pesce F, Bauerfeind A, Rüschendorf F, Rintisch C, Petretto E, Barton PJ, Cook SA, Pinto YM, Bezzina CR, Hubner N. Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy. Genome Biology. 2017 Sep 14;18(1):170. doi: 10.1186/s13059-017-1286-z. PMID: 28903782
• Goh VJ, Le TT, Bryant J, Wong JI, Su B, Lee CH, Pua CJ, Sim CPY, Ang B, Aw TC, Cook SA, Chin CWL. Novel Index of Maladaptive Myocardial Remodeling in Hypertension. Circulation Cardiovasc Imaging. 2017 Sep;10(9). pii: e006840. doi: 10.1161/CIRCIMAGING.117.006840. PMID: 28847911
• Vassiliou VS, Flynn PD, Raphael CE, Newsome S, Khan T, Ali A, Halliday B, Studer Bruengger A, Malley T, Sharma P, Selvendran S, Aggarwal N, Sri A, Berry H, Donovan J, Lam W, Auger D, Cook SA, Pennell DJ, Prasad SK. Lipoprotein(a) in patients with aortic stenosis: Insights from cardiovascular magnetic resonance. PLoS One. 2017 Jul 13;12(7):e0181077. doi: 10.1371/journal.pone.0181077.
• Whiffin N, Minikel E, Walsh R, O'Donnell-Luria AH, Karczewski K, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur D, Ware JS. Genetic Medicine. Using high-resolution variant frequencies to empower clinical genome interpretation.2017 May 18. doi: 10.1038/gim.2017.26.
• Tayal U, Newsome S, Buchan R, Whiffin N, Walsh R, Barton PJ, Ware JS, Cook SA, Prasad SK. Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy. Journal of the American College of Cardiology. 2017 May 16;69(19):2466-2468. doi:10.1016/j.jacc.2017.03.530. PMID: 28494986
• Lahrouchi N, Raju H, Lodder EM, Papatheodorou E, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen MC, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Bezzina CR, Sheppard MN, Behr ER. Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. Journal of the American College of Cardiology. 2017 May 2;69(17):2134-2145. doi: 10.1016/j.jacc.2017.02.046. PMID: 28449774
• Halliday B, Gulati A, Ali A, Guha K, Newsome SJ, Arzanauskaite M, Vassiliou VS, Lota AS, Izgi C, Tayal U, Khalique Z, Stirrat C, Auger D, Pareek N, Ismail TF, Rosen SD, Vazir A, Alpendurada F, Gregson J, Frenneaux MP, Cowie MR, Cleland JG, Cook SA, Pennell DJ, Prasad SK. Association Between Mid-Wall Late Gadolinium Enhancement and Sudden Cardiac Death in Patients with Dilated Cardiomyopathy and Mild and Moderate Left Ventricular Systolic Dysfunction. Circulation. 2017 May 30;135(22):2106-2115. doi: 10.1161/CIRCULATIONAHA.116.026910. PMID: 28351901
• Esslinger U, Garnier S, Korniat A, Proust C, Kararigas G, Müller-Nurasyid M, Empana JP, Morley MP, Perret C, Stark K, Bick AG, Prasad SK, Kriebel J, Li J, Tiret L, Strauch K, O'Regan DP, Marguiles KB, Seidman JG, Boutouyrie P, Lacolley P, Jouven X, Hengstenberg C, Komajda M, Hakonarson H, Isnard R, Arbustini E, Grallert H, Cook SA, Seidman CE, Regitz-Zagrosek V, Cappola TP, Charron P, Cambien F, Villard E. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS One. 2017 Mar 15;12(3):e0172995. doi: 10.1371/journal.pone.0172995. PMID: 28296976
• Le TT, Huang W, Bryant JA, Cook SA, Chin CW. Stress cardiovascular magnetic resonance imaging: current and future perspectives. Expert Rev Cardiovasc Ther. 2017 Mar;15(3):181-189. doi: 10.1080/14779072.2017.1296356. PMID: 28256176
• Tayal U, Prasad S, Cook SA. Genetics and genomics of dilated cardiomyopathy and systolic heart failure. Genome Medicine. 2017 Feb 22;9(1):20. doi: 10.1186/s13073-017-0410-8. PMID: 28228157
• Le TT, Bryant JA, Ting AE, Ho PY, Su B, Teo RC, Gan JS, Chung YC, O'Regan DP, Cook SA, Chin CW. Assessing exercise cardiac reserve using real-time cardiovascular magnetic resonance. Journal of Cardiovascular Magnetic Resonance. 2017 Jan 23;19(1):7. doi: 10.1186/s12968-017-0322-1. PMID: 28110638
• Dawes TJ, de Marvao A, Shi W, Fletcher T, Watson GM, Wharton J, Rhodes CJ, Howard LS, Gibbs JS, Rueckert D, Cook SA, Wilkins MR, O'Regan DP. Machine Learning of Three-dimensional Right Ventricular Motion Enables Outcome Prediction in Pulmonary Hypertension: A Cardiac MR Imaging Study. Radiology. 2017 Jan 16:161315. doi: 10.1148/radiol.2016161315. PMID 28092203
• Oktay O, Bai W, Guerrero R, Rajchl M, de Marvao A, O'Regan DP, Cook SA, Heinrich MP, Glocker B, Rueckert D. Stratified Decision Forests for Accurate Anatomical Landmark Localization in Cardiac Images. IEEE Trans Med Imaging. 2017 Jan;36(1):332-342. doi: 10.1109/TMI.2016.2597270. PMID: 28055830
• Rea G, Homfray T, Till J, Roses-Noguer F, Buchan RJ, Wilkinson S, Wilk A, Walsh R, John S, McKee S, Stewart FJ, Murday V, Taylor RW, Ashworth M, Baksi AJ, Daubeney P, Prasad S, Barton PJ, Cook SA, Ware JS. Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11. Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001271. doi: 10.1101/mcs.a001271. PMID: 28050600
• Walsh R, Buchan R, Wilk A, John S, Felkin LE, Thomson KL, Chiaw TH, Loong CC, Pua CJ, Raphael C, Prasad S, Barton PJ, Funke B, Watkins H, Ware JS, Cook SA. Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. European Heart Journal 2017 Jan 11. pii: ehw603. doi: 10.1093/eurheartj/ehw603. PMID: 28082330
• Tayal U, Cook SA. Truncating Variants in Filamin C: The Challenges of Genotype-Phenotype Correlations in Cardiomyopathies. Journal of the American College of Cardiology. 2016 Dec 6;68(22):2452-2453. doi: 10.1016/j.jacc.2016.05.105.
• Schafer S, de Marvao A, Adami E, Fiedler L, Ng B, Khin E, Rackham O, van Heesch S, Pua CJ, Kui M, Walsh R, Tayal U, Prasad SK, Dawes TJW, Ko NSJ, Sim D, Chan LL, Mazzarotto F, Barton PJ, Kreuchwig F, de Kliejn D, Totman T, Biffi C, Tee N, Schneider V, Faber A, Regitz-Zagrosek V, Seidman JG, Seidman CE, Linke WA, Kovalik JP, O’Regan DP, Ware JS, Hubner N, Cook SA. Titin truncating variants affect the heart in health and disease. Nature Genetics, 2017 Jan;49(1):46-53. doi: 10.1038/ng.3719.. PMID: 2786982
• Burke MA, Cook SA, Seidman JG, Seidman CE. Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. Journal of the American College of Cardiology. 2016 Dec 27;68(25):2871-2886. doi: 10.1016/j.jacc.2016.08.079. PMID 28007147
• Dawes TJ, Corden B, Cotter S, de Marvao A, Walsh R, Ware JS, Cook SA, O'Regan DP. Moderate Physical Activity in Healthy Adults Is Associated With Cardiac Remodeling. Circulation Cardiovasc Imaging. 2016 Aug;9(8). pii: e004712. doi: 10.1161/CIRCIMAGING.116.004712. PMID: 27502059
• Walsh R and Cook SA. Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions. Clinical Chemistry. 2017 Jan;63(1):116-128. doi: 10.1373/clinchem.2016.254698
• Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H. Reassessment Of Mendelian Gene Pathogenicity Using 7,855 Cardiomyopathy Cases And 60,706 Reference Samples. Genetics in Medicine. Genet Med. 2017 Feb;19(2):192-203.doi:10.1038/gim.2016.90. Epub 2016 Aug 17. PMID:27532257
• Wang M, Sips P, Khin E, Rotival M, Sun X, Ahmed R, Widjaja AA, Schafer S, Yusoff P, Choksi PK, Ko NS, Singh MK, Epstein D, Guan Y, Houštěk J, Mracek T, Nuskova H, Mikell B, Tan J, Pesce F, Kolar F, Bottolo L, Mancini M, Hubner N, Pravenec M, Petretto E, MacRae C, Cook SA. Wars2 is a determinant of angiogenesis. Nature Communications. 2016 Jul 8;7:12061. doi: 10.1038/ncomms12061 PMID: 27389904
• Japp AG, Gulati A, Cook SA, Cowie MR, Prasad SK. The Diagnosis and Evaluation of Dilated Cardiomyopathy. Journal of the American College of Cardiology. 2016 Jun 28;67(25):2996-3010 doi: 10.1016/j.jacc.2016.03.590..PMID: 27339497
• Diane Fatkin, Lien Lam, Daniel S Herman, Craig C Benson, Leanne E Felkin, Paul JR Barton, Roddy Walsh, Sukru Candan, James S Ware, Angharad M Roberts, Wendy K Chung, Leslie Smoot, Helen Bornaun, Anne M Keogh, Peter S Macdonald, Christopher S Hayward, JG Seidman, Amy E Roberts, Stuart A Cook, Christine E Seidman. Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young. Progress in Pediatric Cardiology 2016 March, 40:41–45
• Corden B, de Marvao A, Dawes TJ, Shi W, Rueckert D, Cook SA, O'Regan DP. Relationship between body composition and left ventricular geometry using three dimensional cardiovascular magnetic resonance. Journal of Cardiovascular Magnetic Resonance. 2016 May 31;18(1):32. doi: 10.1186/s12968-016-0251-4. PMID: 27245154
• Felkin LE, Walsh R, Ware JS, Yacoub MH, Birks EJ, Barton PJ, Cook SA. Recovery of Cardiac Function in Cardiomyopathy Caused by Titin Truncation. JAMA Cardiol. 2016;1(2):234-235. doi:10.1001/jamacardio.2016.0208.
• Le TT, Tan RS, De Deyn M, Goh EP, Han Y, Leong BR, Cook SA, Chin CW. Cardiovascular magnetic resonance reference ranges for the heart and aorta in Chinese at 3T. Journal of Cardiovascular Magnetic Resonance. 2016 Apr 12;18(1):21.doi:10.1186/s12968-016-0236-3.
• Pua CJ, Bhalshankar J, Miao K, Walsh R, John S, Lim SQ, Chow K, Buchan R, Soh BY, Lio PM, Lim J, Schafer S, Lim JQ, Tan P, Whiffin N, Barton PJ, Ware JS, Cook SA. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. J Cardiovasc Transl Res. 2016 Feb;9(1):3-11. doi: 10.1007/s12265-016-9673-5. Epub 2016 Feb 17. PMID: 26888179
• Durighel G, Tokarczuk PF, Karsa A, Gordon F, Cook SA, O'Regan DP. Acute myocardial infarction: susceptibility-weighted cardiac MRI for the detection of reperfusion haemorrhage at 1.5 T. Clin Radiol. 2016 Mar;71(3):e150-6. doi: 10.1016/j.crad.2015.12.008. Epub 2016 Jan 6. PMID: 26772533
• Creemers EE, Bawazeer A, Ugalde AP, van Deutekom HW, van der Made I, de Groot NE, Adriaens ME, Cook SA, Bezzina CR, Hubner N, van der Velden J, Elkon R, Agami R, Pinto YM. Genome-Wide Polyadenylation Maps Reveal Dynamic mRNA 3'-End Formation in the Failing Human Heart. Circulation Research. 2016 Feb 5;118(3):433-8. doi:10.1161/CIRCRESAHA.115.307082. PMID: 26671978
• Ware JS, Li J, Mazaika E, Yasso CM, DeSouza T, Cappola TP, Tsai EJ, Hilfiker-Kleiner D, Kamiya CA, Mazzarotto F, Cook SA, Halder I, Prasad SK, Pisarcik J, Hanley-Yanez K, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Kealey A, Alexis J, Ramani G, Safirstein J, Boehmer J, Pauly DF, Wittstein IS, Thohan V, Zucker MJ, Liu P, Gorcsan J 3rd, McNamara DM, Seidman CE, Seidman JG, Arany Z; IMAC-2 and IPAC Investigators. Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. New England Journal of Medicine. 2016 Jan 21;374(3):233-41. doi: 10.1056/NEJMoa1505517. Epub 2016 Jan 6. PMID: 26735901
• Dawes TJ, Gandhi A, de Marvao A, Buzaco R, Tokarczuk P, Quinlan M, Durighel G, Diamond T, Monje-Garcia L, de Cesare A, Cook SA, O'Regan DP. Pulmonary Artery Stiffness Is Independently Associated with Right Ventricular Mass and Function: A Cardiac MR Imaging Study. Radiology. 2016 Feb 24:151527. PMID: 26909648