Select Publications

Journal articles

Fatkin D; Huttner IG; Johnson R, 2019, 'Genetics of atrial cardiomyopathy', Current Opinion in Cardiology, vol. 34, pp. 275 - 281, http://dx.doi.org/10.1097/HCO.0000000000000610

Adlam D; Olson TM; Combaret N; Kovacic JC; Iismaa SE; Al-Hussaini A; O'Byrne MM; Bouajila S; Georges A; Mishra K; Braund PS; d'Escamard V; Huang S; Margaritis M; Nelson CP; de Andrade M; Kadian-Dodov D; Welch CA; Mazurkiewicz S; Jeunemaitre X; Motreff P; Belle L; Dupouy P; Barnay P; Meneveau N; Gilard M; Rioufol G; Range G; Brunel P; Delarche N; Filippi E; Le Bivic L; Harbaoui B; Benamer H; Cayla G; Varenne O; Manzo-Silberman SP; Silvain J; Spaulding C; Caussin C; Gerbaud E; Valy Y; Koning R; Lhermusier T; Champin S; Salengro E; Fluttaz A; Zabalawi A; Cottin Y; Teiger E; Saint-Etienne C; Ducrocq G; Marliere S; Boiffard E; Aubry P; Georges JL; Bresson D; De Poli F; Karrillon G; Roule V; Bali L; Valla M; Gerbay A; Houpe D; Dubreuil O; Monnier A; Mayaud N; Manchuelle A; Commeau P; Bedossa M; Wong CMY; Giannoulatou E; Sweeting M; Muller D; Wood A; McGrath-Cadell L; Fatkin D; Dunwoodie SL; Harvey R; Holloway C; Empana JP; Jouven X; Nikpay M; Goel A; Won HH; Hall LM; Willenborg C; Kanoni S; Saleheen D; Kyriakou T; Hopewell JC; Webb TR; Zeng L; Dehghan A; Alver M; Armasu SM; Auro K; Bjonnes A; Chasman DI; Chen S, 2019, 'Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection', Journal of the American College of Cardiology, vol. 73, pp. 58 - 66, http://dx.doi.org/10.1016/j.jacc.2018.09.085

Peters S; Kumar S; Elliott P; Kalman JM; Fatkin D, 2019, 'Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management', Heart Lung and Circulation, vol. 28, pp. 31 - 38, http://dx.doi.org/10.1016/j.hlc.2018.09.010

Minoche AE; Horvat C; Johnson R; Gayevskiy V; Morton SU; Drew AP; Woo K; Statham AL; Lundie B; Bagnall RD; Ingles J; Semsarian C; Seidman JG; Seidman CE; Dinger ME; Cowley MJ; Fatkin D, 2019, 'Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy', Genetics in Medicine, vol. 21, pp. 650 - 662, http://dx.doi.org/10.1038/s41436-018-0084-7

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, 2019, 'A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy', Genetics in Medicine, vol. 21, pp. 133 - 143, http://dx.doi.org/10.1038/s41436-018-0036-2

Fatkin D, 2018, 'ETV1: A new player in atrial remodeling', Circulation Research, vol. 123, pp. 515 - 517, http://dx.doi.org/10.1161/CIRCRESAHA.118.313606

Huttner IG; Wang LW; Santiago CF; Horvat C; Johnson R; Cheng D; von Frieling-Salewsky M; Hillcoat K; Bemand TJ; Trivedi G; Braet F; Hesselson D; Alford K; Hayward CS; Seidman JG; Seidman CE; Feneley MP; Linke WA; Fatkin D, 2018, 'A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance', Circulation. Genomic and precision medicine, vol. 11, pp. e002135, http://dx.doi.org/10.1161/CIRCGEN.118.002135

Zhang H; Dvornikov AV; Huttner IG; Ma X; Santiago CF; Fatkin D; Xu X, 2018, 'A Langendorff-like system to quantify cardiac pump function in adult zebrafish', DMM Disease Models and Mechanisms, vol. 11, http://dx.doi.org/10.1242/dmm.034819

Minoche AE; Horvat C; Johnson R; Gayevskiy V; Morton SU; Drew AP; Woo K; Statham AL; Lundie B; Bagnall RD; Ingles J; Semsarian C; Seidman JG; Seidman CE; Dinger ME; Cowley MJ; Fatkin D, 2018, 'Response to Brodehl et al.', Genetics in Medicine, pp. 1 - 2, http://dx.doi.org/10.1038/s41436-018-0292-1

Bagnall RD; Ingles J; Dinger ME; Cowley MJ; Ross SB; Minoche AE; Lal S; Turner C; Colley A; Rajagopalan S; Berman Y; Ronan A; Fatkin D; Semsarian C, 2018, 'Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy', Journal of the American College of Cardiology, vol. 72, pp. 419 - 429, http://dx.doi.org/10.1016/j.jacc.2018.04.078

Roselli C; Chaffin MD; Weng LC; Aeschbacher S; Ahlberg G; Albert CM; Almgren P; Alonso A; Anderson CD; Aragam KG; Arking DE; Barnard J; Bartz TM; Benjamin EJ; Bihlmeyer NA; Bis JC; Bloom HL; Boerwinkle E; Bottinger EB; Brody JA; Calkins H; Campbell A; Cappola TP; Carlquist J; Chasman DI; Chen LY; Chen YDI; Choi EK; Choi SH; Christophersen IE; Chung MK; Cole JW; Conen D; Cook J; Crijns HJ; Cutler MJ; Damrauer SM; Daniels BR; Darbar D; Delgado G; Denny JC; Dichgans M; Dörr M; Dudink EA; Dudley SC; Esa N; Esko T; Eskola M; Fatkin D; Felix SB; Ford I; Franco OH; Geelhoed B; Grewal RP; Gudnason V; Guo X; Gupta N; Gustafsson S; Gutmann R; Hamsten A; Harris TB; Hayward C; Heckbert SR; Hernesniemi J; Hocking LJ; Hofman A; Horimoto ARVR; Huang J; Huang PL; Huffman J; Ingelsson E; Ipek EG; Ito K; Jimenez-Conde J; Johnson R; Jukema JW; Kääb S; Kähönen M; Kamatani Y; Kane JP; Kastrati A; Kathiresan S; Katschnig-Winter P; Kavousi M; Kessler T; Kietselaer BL; Kirchhof P; Kleber ME; Knight S; Krieger JE; Kubo M; Launer LJ; Laurikka J; Lehtimäki T; Leineweber K; Lemaitre RN; Li M; Lim HE; Lin HJ; Lin H, 2018, 'Multi-ethnic genome-wide association study for atrial fibrillation', Nature Genetics, pp. 1 - 9, http://dx.doi.org/10.1038/s41588-018-0133-9

Fatkin D, 2018, 'Left ventricular diastolic dysfunction in hutchinson-gilford progeria syndrome', JAMA Cardiology, vol. 3, pp. 334 - 335, http://dx.doi.org/10.1001/jamacardio.2017.5377

Fatkin D; Cox CD; Huttner IG; Martinac B, 2018, 'Is There a Role for Genes in Exercise-Induced Atrial Cardiomyopathy?', Heart Lung and Circulation, vol. 27, pp. 1093 - 1098, http://dx.doi.org/10.1016/j.hlc.2018.03.028

Wang LW; Kesteven SH; Huttner IG; Feneley MP; Fatkin D, 2018, 'High-frequency echocardiography ― transformative clinical and research applications in humans, mice, and zebrafish ―', Circulation Journal, vol. 82, pp. 620 - 628, http://dx.doi.org/10.1253/circj.CJ-18-0027

Nikolova-Krstevski V; Wagner S; Yu ZY; Cox CD; Cvetkovska J; Hill AP; Huttner IG; Benson V; Werdich AA; MacRae C; Feneley MP; Friedrich O; Martinac B; Fatkin D, 2017, 'Endocardial TRPC-6 Channels Act as Atrial Mechanosensors and Load-Dependent Modulators of Endocardial/Myocardial Cross-Talk', JACC: Basic to Translational Science, vol. 2, pp. 575 - 590, http://dx.doi.org/10.1016/j.jacbts.2017.05.006

Ito K; Patel PN; Gorham JM; McDonough B; DePalma SR; Adler EE; Lam L; MacRae CA; Mohiuddin SM; Fatkin D; Seidman CE; Seidman JG, 2017, 'Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing', Proceedings of the National Academy of Sciences of the United States of America, vol. 114, pp. 7689 - 7694, http://dx.doi.org/10.1073/pnas.1707741114

Friedrich O; Schneidereit D; Nikolaev YA; Nikolova-Krstevski V; Schürmann S; Wirth-Hücking A; Merten AL; Fatkin D; Martinac B, 2017, 'Adding dimension to cellular mechanotransduction: Advances in biomedical engineering of multiaxial cell-stretch systems and their application to cardiovascular biomechanics and mechano-signaling', Progress in Biophysics and Molecular Biology, vol. 130, pp. 170 - 191, http://dx.doi.org/10.1016/j.pbiomolbio.2017.06.011

Fatkin D; Santiago CF; Huttner IG; Lubitz SA; Ellinor PT, 2017, 'Genetics of Atrial Fibrillation: State of the Art in 2017', Heart Lung and Circulation, vol. 26, pp. 894 - 901, http://dx.doi.org/10.1016/j.hlc.2017.04.008

Fatkin D; Johnson R; McGaughran J; Weintraub RG; Atherton JJ, 2017, 'Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy', Heart Lung and Circulation, vol. 26, pp. 1127 - 1132, http://dx.doi.org/10.1016/j.hlc.2017.04.021

Fatkin D; Johnson R, 2017, 'Are Double Mutations Double Trouble?', Circulation: Cardiovascular Genetics, vol. 10, http://dx.doi.org/10.1161/CIRCGENETICS.117.001749

Singh L; Fatkin D; Duque G, 2017, 'Lamin A(+/-) mice as a new animal model to study osteosarcopenia', AUSTRALASIAN JOURNAL ON AGEING, vol. 36, pp. 25 - 26, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000397496400033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a

Furtado MB; Wilmanns JC; Chandran A; Perera J; Hon O; Biben C; Willow TJ; Nim HT; Kaur G; Simonds S; Wu Q; Willians D; Salimova E; Plachta N; Denegre JM; Murray SA; Fatkin D; Cowley M; Pearson JT; Kaye D; Ramialison M; Harvey RP; Rosenthal NA; Costa MW, 2017, 'Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling', JCI insight, vol. 2, pp. e88271, http://dx.doi.org/10.1172/jci.insight.88271

Fatkin D; Huttner IG; Martin I, 2017, 'Titin-truncating mutations in dilated cardiomyopathy: the long and short of it', Current Opinion in Cardiology, vol. 32, pp. 232 - 238, http://dx.doi.org/10.1097/HCO.0000000000000382

Wang LW; Huttner IG; Santiago CF; Kesteven SH; Yu ZY; Feneley MP; Fatkin D; Martin I, 2017, 'Standardized echocardiographic assessment of cardiac function in normal adult zebrafish and heart disease models', DMM Disease Models and Mechanisms, vol. 10, pp. 63 - 76, http://dx.doi.org/10.1242/dmm.026989

Iyngkaran P; Thomas MC; Johnson R; French J; Ilton M; McDonald P; Hare DL; Fatkin D, 2016, 'Contextualizing genetics for regional heart failure care', Current Cardiology Reviews, vol. 12, pp. 231 - 242, http://dx.doi.org/10.2174/1573403X12666160606123103

Christensen AH; Chatelain FC; Huttner IG; Olesen MS; Soka M; Feliciangeli S; Horvat C; Santiago CF; Vandenberg JI; Schmitt N; Olesen SP; Lesage F; Fatkin D; Martin I, 2016, 'The two-pore domain potassium channel, TWIK-1, has a role in the regulation of heart rate and atrial size', Journal of Molecular and Cellular Cardiology, vol. 97, pp. 24 - 35, http://dx.doi.org/10.1016/j.yjmcc.2016.04.006

Fatkin D; Lam L; Herman DS; Benson CC; Felkin LE; Barton PJ; Walsh R; Candan S; Ware JS; Roberts AM; Chung WK; Smoot L; Bornaun H; keogh A; Macdonald P; Hayward CS; Seidman JG; Roberts AE; Cook SA; Seidman CE, 2016, 'Titin truncating mutations: a rare cause of dilated cardiomyopathy in the young', Progress in Pediatric Cardiology, vol. 40, pp. 41 - 45, http://dx.doi.org/10.1016/j.ppedcard.2016.01.003

Roberts AM; Ware JS; Herman DS; Schafer S; Baksi J; Bick AG; Buchan RJ; Walsh R; John S; Wilkinson S; Mazzarotto F; Felkin LE; Gong S; Macarthur JAL; Cunningham F; Flannick J; Gabriel SB; Altshuler DM; MacDonald PS; Heinig M; Keogh AM; Hayward CS; Banner NR; Pennell DJ; O'Regan DP; San TR; De Marvao A; Dawes TJW; Gulati A; Birks EJ; Yacoub MH; Radke M; Gotthardt M; Wilson JG; O'Donnell CJ; Prasad SK; Barton PJR; Fatkin D; Hubner N; Seidman JG; Seidman CE; Cook SA, 2015, 'Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease', Science Translational Medicine, vol. 7, http://dx.doi.org/10.1126/scitranslmed.3010134

Cannon L; Yu ZY; Marciniec T; Waardenberg AJ; Iismaa SE; Nikolova-Krstevski V; Neist E; Ohanian M; Qiu MR; Rainer S; Harvey RP; Feneley MP; Graham RM; Fatkin D, 2015, 'Irreversible triggers for hypertrophic cardiomyopathy are established in the early postnatal period', Journal of the American College of Cardiology, vol. 65, pp. 560 - 569, http://dx.doi.org/10.1016/j.jacc.2014.10.069

Wang LW; Grygiel JJ; O'Neill JH; Fatkin D; Feneley MP, 2015, 'Snowflakes in the heart: an ultrasonic marker of severe hypercoagulability.', Lancet, vol. 385, pp. 302, http://dx.doi.org/10.1016/S0140-6736(14)62221-2

Wang LW; Grygiel JJ; O'Neill JH; Fatkin D; Feneley MP, 2015, 'Snowflakes in the heart: An ultrasonic marker of severe hypercoagulability', The Lancet, vol. 385, pp. 302, http://dx.doi.org/10.1016/S0140-6736(14)62221-2

Fatkin D; Seidman CE; Seidman JG, 2014, 'Genetics and disease of ventricular muscle.', Cold Spring Harbor perspectives in medicine, vol. 4, http://dx.doi.org/10.1101/cshperspect.a021063

Johnson R; Stockhammer K; Soka M; Ohanian M; Lam L; Fatkin D, 2014, 'Truncating Titin mutations: Are they a primary cause of dilated cardiomyopathy or a susceptibility factor?', Heart Lung Circ, vol. 23 Suppl 2, pp. e11 - e12, http://dx.doi.org/10.1016/j.hlc.2014.07.030

Martin I; Christensen A; Soka M; Fatkin D, 2014, 'In-vivo characterisation and mutation screening of the cardiac two-pore potassium channel, TWIK-1.', Heart Lung Circ, vol. 23 Suppl 2, pp. e14, http://dx.doi.org/10.1016/j.hlc.2014.07.036

Martin I; Jacoby A; Smith K; Berger J; Trivedi G; Fatkin D, 2014, 'Identifying the genetic cause of DCM in a zebrafish mutant.', Heart Lung Circ, vol. 23 Suppl 2, pp. e2, http://dx.doi.org/10.1016/j.hlc.2014.07.004

Yu ZY; Tan JC; McMahon AC; Iismaa SE; Xiao H; Kesteven SH; Reichelt ME; Mohl MC; Smith NJ; Fatkin D; Allen D; Head SI; Graham RM; Feneley MP, 2014, 'RhoA/ROCK signaling and pleiotropic α1A-adrenergic receptor regulation of cardiac contractility', PLoS ONE, vol. 9, http://dx.doi.org/10.1371/journal.pone.0099024

Ballouz S; Liu JY; Oti M; Gaeta B; Fatkin D; Bahlo M; Wouters MA, 2014, 'Candidate disease gene prediction using : application to a genome-wide association study on coronary artery disease', Molecular Genetics & Genomic Medicine, vol. 2, pp. 44 - 57, http://dx.doi.org/10.1002/mgg3.40

Ballouz S; Liu JY; Oti M; Gaeta B; Fatkin D; Bahlo M; Wouters MA, 2014, 'Candidate disease gene prediction using : application to a genome-wide association study on coronary artery disease', Molecular Genetics & Genomic Medicine, vol. 2, pp. 44 - 57, http://dx.doi.org/10.1002/mgg3.40

Priori SG; Wilde AA; Horie M; Cho Y; Behr ER; Berul C; Blom N; Brugada J; Chiang CE; Huikuri H; Kannankeril P; Krahn A; Leenhardt A; Moss A; Schwartz PJ; Shimizu W; Tomaselli G; Tracy C; Document Reviewers ; Ackerman M; Belhassen B; Estes NAM; Fatkin D; Kalman J; Kaufman E; Kirchhof P; Schulze-Bahr E; Wolpert C; Vohra J; Refaat M; Etheridge SP; Campbell RM; Martin ET; Quek SC; Heart Rhythm Society ; European Heart Rhythm Association ; Asia Pacific Heart Rhythm Society , 2013, 'Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.', Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, vol. 15, pp. 1389 - 1406, http://dx.doi.org/10.1093/europace/eut272

Fatkin D; Nikolova-Krstevski V, 2013, 'Atrial Cardiomyopathy An Orphan Disease or Common Disorder?', Circulation: Cardiovascular Genetics, vol. 6, pp. 5 - 6, http://dx.doi.org/10.1161/CIRCGENETICS.111.000033

Liang B; Soka M; Christensen AH; Olesen MS; Larsen AP; Knop FK; Wang F; Nielsen JB; Andersen MN; Humphreys D; Mann SA; Huttner IG; Vandenberg JI; Svendsen JH; Haunsø S; Preiss T; Seebohm G; Olesen SP; Schmitt N; Fatkin D, 2013, 'Genetic variation in the two-pore domain potassium channel, TASK-1, may contribute to an atrial substrate for arrhythmogenesis.', J Mol Cell Cardiol, vol. 67, pp. 69 - 76, http://dx.doi.org/10.1016/j.yjmcc.2013.12.014

Costa MW; Guo G; Wolstein O; Vale M; Castro ML; Wang L; Otway R; Riek P; Cochrane N; Furtado M; Semsarian C; Weintraub RG; Yeoh T; Hayward C; Keogh A; Macdonald P; Feneley M; Graham RM; Seidman JG; Seidman CE; Rosenthal N; Fatkin D; Harvey RP, 2013, 'Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.', Circ Cardiovasc Genet, vol. 6, pp. 238 - 247, http://dx.doi.org/10.1161/CIRCGENETICS.113.000057

Costa MW; Guo G; Wolstein O; Vale M; Castro ML; Wang L; Otway R; Riek P; Cochrane N; Furtado M; Semsarian C; Weintraub RG; Yeoh T; Hayward C; Keogh A; Macdonald P; Feneley M; Graham RM; Seidman JG; Seidman CE; Rosenthal N; Fatkin D; Harvey RP, 2013, 'Functional Characterization of a Novel Mutation in NKX2-5 Associated With Congenital Heart Disease and Adult-Onset Cardiomyopathy', Circulation: Cardiovascular Genetics, vol. 6, pp. 238 - 247, http://dx.doi.org/10.1161/CIRCGENETICS.113.000057

Ohanian M; Humphreys DT; Anderson E; Preiss T; Fatkin D, 2013, 'A heterozygous variant in the human cardiac miR-133 gene, MIR133A2, alters miRNA duplex processing and strand abundance.', BMC genetics, vol. 14, http://dx.doi.org/10.1186/1471-2156-14-18

Christensen AH; Fatkin D, 2013, 'Efficacy of carvedilol in pediatric heart failure', Future Cardiology, vol. 9, pp. 475 - 478, http://dx.doi.org/10.2217/fca.13.36

Huttner IG; Trivedi G; Jacoby A; Mann SA; Vandenberg JI; Fatkin D, 2013, 'A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death', Journal of Molecular and Cellular Cardiology, vol. 61, pp. 123 - 132, http://dx.doi.org/10.1016/j.yjmcc.2013.06.005

Ballouz S; Liu JY; George RA; Bains N; Liu A; Oti M; Gaeta B; Fatkin D; Wouters MA, 2013, 'Gentrepid V2.0: A web server for candidate disease gene prediction', BMC Bioinformatics, vol. 14, http://dx.doi.org/10.1186/1471-2105-14-249

Fatkin D, 2012, 'Familial dilated cardiomyopathy: Current challenges and future directions', Global Cardiology Science and Practice, vol. 2012, pp. 8 - 8, http://dx.doi.org/10.5339/gcsp.2012.8

Vidal C; Bermeo S; Fatkin D; Duque G, 2012, 'Role of the nuclear envelope in the pathogenesis of age-related bone loss and osteoporosis.', Bonekey Rep, vol. 1, pp. 62, http://dx.doi.org/10.1038/bonekey.2012.62

Humphreys DT; Hynes CJ; Patel HR; Wei GH; Cannon L; Fatkin D; Suter CM; Clancy JL; Preiss T, 2012, 'Complexity of murine cardiomyocyte miRNA biogenesis, sequence variant expression and function.', PLoS One, vol. 7, pp. e30933, http://dx.doi.org/10.1371/journal.pone.0030933


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