Select Publications

Book Chapters

Paranal RM; Teekakirikul P; Ho CY; Fatkin D; Seidman CE, 2020, '2 Genetic Cardiomyopathies', in Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, pp. 77 - 114, http://dx.doi.org/10.1016/b978-0-12-812532-8.00002-1

Paranal RM; Teekakirikul P; Ho CY; Fatkin D; Seidman CE, 2019, 'Genetic cardiomyopathies', in Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, pp. 77 - 114, http://dx.doi.org/10.1016/B978-0-12-812532-8.00002-1

Fatkin D; Seidman JG; Seidman CE, 2007, 'Hypertrophic Cardiomyopathy', in Cardiovascular Medicine, Springer London, pp. 1261 - 1284, http://dx.doi.org/10.1007/978-1-84628-715-2_59

Fatkin D, 'Familial Dilated Cardiomyopathy', in Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine, Springer Berlin Heidelberg, pp. 550 - 557, http://dx.doi.org/10.1007/3-540-29623-9_2080

Journal articles

Chen S; Francioli LC; Goodrich JK; Collins RL; Kanai M; Wang Q; Alföldi J; Watts NA; Vittal C; Gauthier LD; Poterba T; Wilson MW; Tarasova Y; Phu W; Grant R; Yohannes MT; Koenig Z; Farjoun Y; Banks E; Donnelly S; Gabriel S; Gupta N; Ferriera S; Tolonen C; Novod S; Bergelson L; Roazen D; Ruano-Rubio V; Covarrubias M; Llanwarne C; Petrillo N; Wade G; Jeandet T; Munshi R; Tibbetts K; Abreu M; Aguilar Salinas CA; Ahmad T; Albert CM; Ardissino D; Armean IM; Atkinson EG; Atzmon G; Barnard J; Baxter SM; Beaugerie L; Benjamin EJ; Benjamin D; Boehnke M; Bonnycastle LL; Bottinger EP; Bowden DW; Bown MJ; Brand H; Brant S; Brookings T; Bryant S; Calvo SE; Campos H; Chambers JC; Chan JC; Chao KR; Chapman S; Chasman DI; Chisholm R; Cho J; Chowdhury R; Chung MK; Chung WK; Cibulskis K; Cohen B; Connolly KM; Correa A; Cummings BB; Dabelea D; Danesh J; Darbar D; Darnowsky P; Denny J; Duggirala R; Dupuis J; Ellinor PT; Elosua R; Emery J; England E; Erdmann J; Esko T; Evangelista E; Fatkin D; Florez J; Franke A; Fu J; Färkkilä M; Garimella K; Gentry J; Getz G; Glahn DC; Glaser B; Glatt SJ; Goldstein D, 2024, 'Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes (Nature, (2024), 625, 7993, (92-100), 10.1038/s41586-023-06045-0)', Nature, 626, pp. E1, http://dx.doi.org/10.1038/s41586-024-07050-7

Chen S; Francioli LC; Goodrich JK; Collins RL; Kanai M; Wang Q; Alföldi J; Watts NA; Vittal C; Gauthier LD; Poterba T; Wilson MW; Tarasova Y; Phu W; Grant R; Yohannes MT; Koenig Z; Farjoun Y; Banks E; Donnelly S; Gabriel S; Gupta N; Ferriera S; Tolonen C; Novod S; Bergelson L; Roazen D; Ruano-Rubio V; Covarrubias M; Llanwarne C; Petrillo N; Wade G; Jeandet T; Munshi R; Tibbetts K; Abreu M; Aguilar Salinas CA; Ahmad T; Albert CM; Ardissino D; Armean IM; Atkinson EG; Atzmon G; Barnard J; Baxter SM; Beaugerie L; Benjamin EJ; Benjamin D; Boehnke M; Bonnycastle LL; Bottinger EP; Bowden DW; Bown MJ; Brand H; Brant S; Brookings T; Bryant S; Calvo SE; Campos H; Chambers JC; Chan JC; Chao KR; Chapman S; Chasman DI; Chisholm R; Cho J; Chowdhury R; Chung MK; Chung WK; Cibulskis K; Cohen B; Connolly KM; Correa A; Cummings BB; Dabelea D; Danesh J; Darbar D; Darnowsky P; Denny J; Duggirala R; Dupuis J; Ellinor PT; Elosua R; Emery J; England E; Erdmann J; Esko T; Evangelista E; Fatkin D; Florez J; Franke A; Fu J; Färkkilä M; Garimella K; Gentry J; Getz G; Glahn DC; Glaser B; Glatt SJ; Goldstein D, 2024, 'A genomic mutational constraint map using variation in 76,156 human genomes', Nature, 625, pp. 92 - 100, http://dx.doi.org/10.1038/s41586-023-06045-0

Guo MH; Francioli LC; Stenton SL; Goodrich JK; Watts NA; Singer-Berk M; Groopman E; Darnowsky PW; Solomonson M; Baxter S; Abreu M; Salinas CAA; Ahmad T; Albert CM; Alföldi J; Ardissino D; Armean IM; Atzmon G; Banks E; Barnard J; Baxter SM; Beaugerie L; Benjamin EJ; Benjamin D; Bergelson L; Boehnke M; Bonnycastle LL; Bottinger EP; Bowden DW; Bown MJ; Brant S; Calvo SE; Campos H; Chambers JC; Chan JC; Chao KR; Chapman S; Chasman D; Chen S; Chisholm RL; Cho J; Chowdhury R; Chung MK; Chung WK; Cibulskis K; Cohen B; Collins RL; Connolly KM; Correa A; Covarrubias M; Cummings B; Dabelea D; Danesh J; Darbar D; Denny J; Donnelly S; Duggirala R; Dupuis J; Ellinor PT; Elosua R; Emery J; England E; Erdmann J; Esko T; Evangelista E; Farjoun Y; Fatkin D; Ferriera S; Florez J; Franke A; Färkkilä M; Gabriel S; Garimella K; Gauthier LD; Gentry J; Getz G; Glahn DC; Glaser B; Glatt SJ; Goldstein D; Gonzalez C; Groop L; Gudmundsson S; Gupta N; Haessly A; Haiman C; Hall I; Hanis C; Harms M; Hiltunen M; Holi MM; Hultman CM; Jalas C; Jeandet T; Kallela M; Kaplan D; Kaprio J; Kathiresan S; Kenny E; Kim BJ, 2024, 'Inferring compound heterozygosity from large-scale exome sequencing data', Nature Genetics, 56, pp. 152 - 161, http://dx.doi.org/10.1038/s41588-023-01608-3

Tarr I; Hesselson S; Troup M; Young P; Thompson JL; McGrath-Cadell L; Fatkin D; Dunwoodie SL; Muller DWM; Iismaa SE; Kovacic JC; Graham RM; Giannoulatou E, 2024, 'Polygenic Risk in Families With Spontaneous Coronary Artery Dissection', JAMA Cardiology, http://dx.doi.org/10.1001/jamacardio.2023.5194

Claessen G; De Bosscher R; Janssens K; Young P; Dausin C; Claeys M; Claus P; Goetschalckx K; Bogaert J; Mitchell AM; Flannery MD; Elliott AD; Yu C; Ghekiere O; Robyns T; Van De Heyning CM; Sanders P; Kalman JM; Ohanian M; Soka M; Rath E; Giannoulatou E; Johnson R; Lacaze P; Herbots L; Willems R; Fatkin D; Heidbuchel H; La Gerche A; Pro@Heart Consortium , 2023, 'Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap With Dilated Cardiomyopathy.', Circulation, http://dx.doi.org/10.1161/CIRCULATIONAHA.122.063777

Marcoux E; Sosnowski D; Ninni S; MacKasey M; Cadrin-Tourigny J; Roberts JD; Olesen MS; Fatkin D; Nattel S, 2023, 'Genetic Atrial Cardiomyopathies: Common Features, Specific Differences, and Broader Relevance to Understanding Atrial Cardiomyopathy', Circulation: Arrhythmia and Electrophysiology, 16, pp. 675 - 698, http://dx.doi.org/10.1161/CIRCEP.123.003750

Perotto M; Sepp R; Prasad S; Verdonschot JAJ; Elliott P; Parikh V; Olivotto J; Mazzarotto F; Fatkin D; Garcia Pavia P; Lakdawala N; Mckenna WJ; Mestroni L; Sinagra G; Dal Ferro M, 2023, 'Genetic and phenotypic characterization of Nexilin (NEXN) related cardiomyopathy', European Heart Journal, 44, http://dx.doi.org/10.1093/eurheartj/ehad655.1816

Johnson R; Otway R; Chin E; Horvat C; Ohanian M; Wilcox JAL; Su Z; Prestes P; Smolnikov A; Soka M; Guo G; Rath E; Chakravorty S; Chrzanowski L; Hayward CS; Keogh AM; MacDonald PS; Giannoulatou E; Chang ACY; Oates EC; Charchar F; Seidman JG; Seidman CE; Hegde M; Fatkin D, 2023, 'DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies', Circulation: Genomic and Precision Medicine, 16, pp. 421 - 430, http://dx.doi.org/10.1161/CIRCGEN.123.004221

Huttner IG; Santiago CF; Jacoby A; Cheng D; Trivedi G; Cull S; Cvetkovska J; Chand R; Berger J; Currie PD; Smith KA; Fatkin D, 2023, 'Loss of Sec-1 Family Domain-Containing 1 (scfd1) Causes Severe Cardiac Defects and Endoplasmic Reticulum Stress in Zebrafish', Journal of Cardiovascular Development and Disease, 10, http://dx.doi.org/10.3390/jcdd10100408

Cannie DE; Protonotarios A; Bakalakos A; Syrris P; Lorenzini M; De Stavola B; Bjerregaard L; Dybro AM; Hey TM; Hansen FG; Navarro Peñalver M; Crespo-Leiro MG; Larrañaga-Moreira JM; De Frutos F; Johnson R; Slater TA; Monserrat L; Sengupta A; Mestroni L; Taylor MRG; Sinagra G; Bilinska Z; Solla-Ruiz I; Arana Achaga X; Barriales-Villa R; Garcia-Pavia P; Gimeno JR; Dal Ferro M; Merlo M; Wahbi K; Fatkin D; Mogensen J; Rasmussen TB; Elliott PM, 2023, 'Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants', Circulation: Genomic and Precision Medicine, 16, pp. 434 - 441, http://dx.doi.org/10.1161/CIRCGEN.123.004059

O'Neill MJ; Chen SN; Rumping L; Johnson R; van Slegtenhorst M; Glazer AM; Yang T; Solus JF; Laudeman J; Mitchell DW; Vanags LR; Kroncke BM; Anderson K; Gao S; Verdonschot JAJ; Brunner H; Hellebrekers D; Taylor MRG; Roden DM; Wessels MW; Lekanne Dit Deprez RH; Fatkin D; Mestroni L; Shoemaker MB, 2023, 'Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant', Heart Rhythm, 20, pp. 1158 - 1166, http://dx.doi.org/10.1016/j.hrthm.2023.05.006

Al-Kaisey A; Wong GR; Young P; Chieng D; Hawson J; Anderson R; Sugumar H; Nalliah C; Prabhu M; Johnson R; Soka M; Tarr I; Bakshi A; Yu C; Lacaze P; Giannoulatou E; McLellan A; Lee G; Kistler PM; Fatkin D; Kalman JM, 2023, 'Polygenic risk scores are associated with atrial electrophysiologic substrate abnormalities and outcomes after atrial fibrillation catheter ablation', Heart Rhythm, 20, pp. 1188 - 1194, http://dx.doi.org/10.1016/j.hrthm.2023.02.011

Fatkin D; Ohanian M; Brown KJ, 2023, 'A Novel Role for FKBP5 in Atrial Cardiomyopathy', Circulation Research, 133, pp. 45 - 47, http://dx.doi.org/10.1161/CIRCRESAHA.123.322988

Adlam D; Berrandou TE; Georges A; Nelson CP; Giannoulatou E; Henry J; Ma L; Blencowe M; Turley TN; Yang ML; Chopade S; Finan C; Braund PS; Sadeg-Sayoud I; Iismaa SE; Kosel ML; Zhou X; Hamby SE; Cheng J; Liu L; Tarr I; Muller DWM; d’Escamard V; King A; Brunham LR; Baranowska-Clarke AA; Debette S; Amouyel P; Olin JW; Patil S; Hesselson SE; Junday K; Kanoni S; Aragam KG; Butterworth AS; Bakker MK; Ruigrok YM; Tweet MS; Gulati R; Combaret N; Kadian-Dodov D; Kalman JM; Fatkin D; Hingorani AD; Saw J; Webb TR; Hayes SN; Yang X; Ganesh SK; Olson TM; Kovacic JC; Graham RM; Samani NJ; Bouatia-Naji N, 2023, 'Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation', Nature Genetics, 55, pp. 964 - 972, http://dx.doi.org/10.1038/s41588-023-01410-1

Gorrie N; MacDonald P; Sivasubramaniam V; Jabbour A; Muthiah K; Fatkin D; Kotlyar E; Hayward C; Bart N, 2023, 'Prevalence of Incidental Amyloid on Cardiac', JOURNAL OF HEART AND LUNG TRANSPLANTATION, 42, pp. S427 - S428, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000992480601218&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

De Bosscher R; Moeyersons J; Dausin C; Claeys M; Janssens K; Claus P; Goetschalckx K; Bogaert J; Van De Heyning CM; Paelinck B; Sanders P; Kalman J; Van Huffel S; Varon C; La Gerche A; Heidbuchel H; Claessen G; Willems R; Van Soest S; Hespel P; Dymarkowski S; Dresselaers T; Miljoen H; Favere K; Vermeulen D; Witvrouwen I; Hansen D; Thijs D; Vanvoorden P; Ghekiere O; Herbots L; Lefebvre K; Flannery MD; Mitchell A; Brosnan M; Prior D; Elliott A; Fatkin D, 2023, 'Relating QRS voltages to left ventricular mass and body composition in elite endurance athletes', European Journal of Applied Physiology, 123, pp. 547 - 559, http://dx.doi.org/10.1007/s00421-022-05080-5

De Bosscher R; Claeys M; Dausin C; Goetschalckx K; Claus P; Herbots L; Ghekiere O; Van De Heyning C; Paelinck BP; Janssens K; Wright L; Flannery MD; La Gerche A; Willems R; Heidbuchel H; Bogaert J; Claessen G; Van Soest S; Hespel P; Dymarkowski S; Dresselaers T; Miljoen H; Favere K; Vermeulen D; Witvrouwen I; Hansen D; Thijs D; Vanvoorden P; Lefebvre K; Mitchell A; Brosnan M; Prior D; Elliott A; Sanders P; Kalman J; Fatkin D, 2023, 'Three-dimensional echocardiography of the athlete’s heart: a comparison with cardiac magnetic resonance imaging', International Journal of Cardiovascular Imaging, 39, pp. 295 - 306, http://dx.doi.org/10.1007/s10554-022-02726-5

Hoorntje ET; Burns C; Marsili L; Corden B; Parikh VN; Te Meerman GJ; Gray B; Adiyaman A; Bagnall RD; Barge-Schaapveld DQCM; Van Den Berg MP; Bootsma M; Bosman LP; Correnti G; Duflou J; Eppinga RN; Fatkin D; Fietz M; Haan E; Jongbloed JDH; Hauer AD; Lam L; Van Lint FHM; Lota A; Marcelis C; McCarthy HJ; Van Mil AM; Oldenburg RA; Pachter N; Planken RN; Reuter C; Semsarian C; Van Der Smagt JJ; Thompson T; Vohra J; Volders PGA; Van Waning JI; Whiffin N; Van Den Wijngaard A; Amin AS; Wilde AAM; Van Woerden G; Yeates L; Zentner D; Ashley EA; Wheeler MT; Ware JS; Van Tintelen JP; Ingles J, 2023, 'Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant', Circulation: Genomic and Precision Medicine, 16, pp. E003672, http://dx.doi.org/10.1161/CIRCGEN.121.003672

Ballinger ML; Pattnaik S; Mundra PA; Zaheed M; Rath E; Priestley P; Baber J; Ray-Coquard I; Isambert N; Causeret S; van der Graaf WTA; Puri A; Duffaud F; Le Cesne A; Seddon B; Chandrasekar C; Schiffman JD; Brohl AS; James PA; Kurtz JE; Penel N; Myklebost O; Meza-Zepeda LA; Pickett H; Kansara M; Waddell N; Kondrashova O; Pearson JV; Barbour AP; Li S; Nguyen TL; Fatkin D; Graham RM; Giannoulatou E; Green MJ; Kaplan W; Ravishankar S; Copty J; Powell JE; Cuppen E; van Eijk K; Veldink J; Ahn JH; Kim JE; Lor Randall R; Tucker K; Judson I; Sarin R; Ludwig T; Genin E; Deleuze JF; Haber M; Marshall G; Cairns MJ; Blay JY; Thomas DM, 2023, 'Heritable defects in telomere and mitotic function selectively predispose to sarcomas', Science, 379, pp. 253 - 260, http://dx.doi.org/10.1126/science.abj4784

Kessler Iglesias C; Pouliopoulos J; Thomas L; Hayward CS; Jabbour A; Fatkin D, 2023, 'Atrial cardiomyopathy: Current and future imaging methods for assessment of atrial structure and function', Frontiers in Cardiovascular Medicine, 10, http://dx.doi.org/10.3389/fcvm.2023.1099625

Mitchell A; Janssens K; Johnson R; Ohanian M; Soka M; De Bosscher R; Classens G; Heidbuchel H; Fatkin D; La Gerche A, 2023, 'Prevalence of Rare Genetic Variants in Cardiomyopathy-associated Genes and Association With Cardiac Phenotype in Endurance Athletes', Heart, Lung and Circulation, 32, pp. S127 - S127, http://dx.doi.org/10.1016/j.hlc.2023.06.759

Santiago C; Huttner IG; Wang LW; Chand R; Cvetkovska J; Zhao G; Hesselson D; Hinits Y; O'Brien A; Feneley M; Smith K; Linke W; Gautel M; Fatkin D, 2022, 'Position-dependent effects of titin truncation on the heart', JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 173, pp. S20 - S21, http://dx.doi.org/10.1016/j.yjmcc.2022.08.042

Yengo L; Vedantam S; Marouli E; Sidorenko J; Bartell E; Sakaue S; Graff M; Eliasen AU; Jiang Y; Raghavan S; Miao J; Arias JD; Graham SE; Mukamel RE; Spracklen CN; Yin X; Chen SH; Ferreira T; Highland HH; Ji Y; Karaderi T; Lin K; Lüll K; Malden DE; Medina-Gomez C; Machado M; Moore A; Rüeger S; Sim X; Vrieze S; Ahluwalia TS; Akiyama M; Allison MA; Alvarez M; Andersen MK; Ani A; Appadurai V; Arbeeva L; Bhaskar S; Bielak LF; Bollepalli S; Bonnycastle LL; Bork-Jensen J; Bradfield JP; Bradford Y; Braund PS; Brody JA; Burgdorf KS; Cade BE; Cai H; Cai Q; Campbell A; Cañadas-Garre M; Catamo E; Chai JF; Chai X; Chang LC; Chang YC; Chen CH; Chesi A; Choi SH; Chung RH; Cocca M; Concas MP; Couture C; Cuellar-Partida G; Danning R; Daw EW; Degenhard F; Delgado GE; Delitala A; Demirkan A; Deng X; Devineni P; Dietl A; Dimitriou M; Dimitrov L; Dorajoo R; Ekici AB; Engmann JE; Fairhurst-Hunter Z; Farmaki AE; Faul JD; Fernandez-Lopez JC; Forer L; Francescatto M; Freitag-Wolf S; Fuchsberger C; Galesloot TE; Gao Y; Gao Z; Geller F; Giannakopoulou O; Giulianini F; Gjesing AP; Goel A; Gordon SD; Gorski M; Grove J; Guo X, 2022, 'A saturated map of common genetic variants associated with human height', Nature, 610, pp. 704 - 712, http://dx.doi.org/10.1038/s41586-022-05275-y

de Frutos F; Ochoa JP; Navarro-Peñalver M; Baas A; Bjerre JV; Zorio E; Méndez I; Lorca R; Verdonschot JAJ; García-Granja PE; Bilinska Z; Fatkin D; Fuentes-Cañamero ME; García-Pinilla JM; García-Álvarez MI; Girolami F; Barriales-Villa R; Díez-López C; Lopes LR; Wahbi K; García-Álvarez A; Rodríguez-Sánchez I; Rekondo-Olaetxea J; Rodríguez-Palomares JF; Gallego-Delgado M; Meder B; Kubanek M; Hansen FG; Restrepo-Córdoba MA; Palomino-Doza J; Ruiz-Guerrero L; Sarquella-Brugada G; Perez-Perez AJ; Bermúdez-Jiménez FJ; Ripoll-Vera T; Rasmussen TB; Jansen M; Sabater-Molina M; Elliot PM; Garcia-Pavia P; Cabrera-Romero E; Cobo-Marcos M; Escobar-Lopez L; Domínguez F; González-López E; Gimeno-Blanes JR; Dooijes D; López Ledesma B; Roche Fortea I; Bermejo J; Espinosa MA; Fernández AI; Vilches S; Gómez C; Gómez J; Coto E; Rodríguez Reguero JJ; Heymans SRB; Brunner HG; López-Díaz J; Truszkowska G; Ploski R; Chmielewski P; Johnson R; Robles-Mezcua A; Díaz-Expósito A; Pérez-Cabeza AI; Jiménez-Rubio C; Payá VC; Favilli S; Syrris P; Cannie D; Billon C; Lopez-Sainz A; Calvo M; Fernández de Bobadilla ÁC; Onaindia-Gandarias JJ; Gaztañaga-Arantzamendi L; Zamarreño-Golvano E; Limeres J; Gutiérrez-García L; Villacorta E; Haas J; Krebsova A; Mogensen J; Cesar S; Campuzano O; Gutiérrez RF; Alvarez-Rubio J; Cremer-Luengos D; Antoniutti G; Caimi-Martinez F; Macías R; Jiménez-Jáimez J; Peña-Peña ML; Díez-Aja López SL; Acereda TP; Corada BA; Piqueras-Flores J; Negreira-Caamaño M, 2022, 'Natural History of MYH7-Related Dilated Cardiomyopathy', Journal of the American College of Cardiology, 80, pp. 1447 - 1461, http://dx.doi.org/10.1016/j.jacc.2022.07.023

La Gerche A; Wasfy MM; Brosnan MJ; Claessen G; Fatkin D; Heidbuchel H; Baggish AL; Kovacic JC, 2022, 'The Athlete's Heart—Challenges and Controversies: JACC Focus Seminar 4/4', Journal of the American College of Cardiology, 80, pp. 1346 - 1362, http://dx.doi.org/10.1016/j.jacc.2022.07.014

Santiago CF; Huttner IG; Fatkin D, 2022, 'Titin-related Cardiomyopathy: Is it a Distinct Disease?', Current Cardiology Reports, 24, pp. 1069 - 1075, http://dx.doi.org/10.1007/s11886-022-01726-0

Tarr I; Hesselson S; Iismaa SE; Rath E; Monger S; Troup M; Mishra K; Wong CMY; Hsu PC; Junday K; Humphreys DT; Adlam D; Webb TR; Baranowska-Clarke AA; Hamby SE; Carss KJ; Samani NJ; Bax M; McGrath-Cadell L; Kovacic JC; Dunwoodie SL; Fatkin D; Muller DWM; Graham RM; Giannoulatou E, 2022, 'Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing', Circulation: Genomic and Precision Medicine, 15, pp. 267 - 277, http://dx.doi.org/10.1161/CIRCGEN.121.003527

Fatkin D; Cox CD; Martinac B, 2022, 'Fishing for Links between Omega-3 Fatty Acids and Atrial Fibrillation', Circulation, 145, pp. 1037 - 1039, http://dx.doi.org/10.1161/CIRCULATIONAHA.121.058596

Cannatà A; Merlo M; Dal Ferro M; Barbati G; Manca P; Paldino A; Graw S; Gigli M; Stolfo D; Johnson R; Roy D; Tharratt K; Bromage DI; Jirikowic J; Abbate A; Goodwin A; Rao K; Marawan A; Carr-White G; Robert L; Parikh V; Ashley E; McDonagh T; Lakdawala NK; Fatkin D; Taylor MRG; Mestroni L; Sinagra G, 2022, 'Association of Titin Variations with Late-Onset Dilated Cardiomyopathy', JAMA Cardiology, 7, pp. 371 - 377, http://dx.doi.org/10.1001/jamacardio.2021.5890

Peters S; James PA; Fatkin D; Zentner D, 2022, 'Pregnancy Outcomes in Females With Dilated Cardiomyopathy-Associated Rare Genetic Variants', Circulation: Genomic and Precision Medicine, 15, pp. E003540, http://dx.doi.org/10.1161/CIRCGEN.121.003540

De Bosscher R; Dausin C; Janssens K; Bogaert J; Elliott A; Ghekiere O; Van De Heyning CM; Sanders P; Kalman J; Fatkin D; Herbots L; Willems R; Heidbuchel H; La Gerche A; Claessen G, 2022, 'Rationale and design of the PROspective ATHletic Heart (Pro@Heart) study: Long-term assessment of the determinants of cardiac remodelling and its clinical consequences in endurance athletes', BMJ Open Sport and Exercise Medicine, 8, http://dx.doi.org/10.1136/bmjsem-2022-001309

Peters S; Thompson BA; Perrin M; James P; Zentner D; Kalman JM; Vandenberg JI; Fatkin D, 2022, 'Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review', Circulation: Genomic and Precision Medicine, 15, pp. E003432, http://dx.doi.org/10.1161/CIRCGEN.121.003432

Paul C; Peters S; Perrin M; Fatkin D; Amerena J, 2022, 'Non-ischaemic dilated cardiomyopathy: recognising the genetic links', Internal Medicine Journal, 53, http://dx.doi.org/10.1111/imj.15921

Al-Kaisey A; Wong G; Young P; Hawson J; Chieng D; Bakshi A; Lacaze P; Giannoulatou E; Kistler P; Fatkin D; Kalman J, 2022, 'Polygenic Risk Scores Identify Atrial Electrophysiological Substrate Abnormalities and Predict Atrial Fibrillation Recurrence Following Catheter Ablation', Heart, Lung and Circulation, 31, pp. S52 - S52, http://dx.doi.org/10.1016/j.hlc.2022.06.027

Lacaze P; Sebra R; Riaz M; Ingles J; Tiller J; Thompson BA; James PA; Fatkin D; Semsarian C; Reid CM; Tonkin AM; Winship I; Schadt E; McNeil JJ, 2021, 'Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent', npj Genomic Medicine, 6, http://dx.doi.org/10.1038/s41525-021-00211-x

Li JV; Ng CA; Cheng D; Zhou Z; Yao M; Guo Y; Yu ZY; Ramaswamy Y; Ju LA; Kuchel PW; Feneley MP; Fatkin D; Cox CD, 2021, 'Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations', Communications Biology, 4, http://dx.doi.org/10.1038/s42003-021-02528-w

Cannata A; Merlo M; Dal Ferro M; Manca P; Paldino A; Barbati G; Graw S; Bromage D; Johnson R; Roy D; Gigli M; Stolfo D; Abbate A; Parkih V; Ashley E; Lakdawala N; Carr-White G; Fatkin D; Mcdonagh T; Taylor M; Mestroni L; Sinagra G, 2021, 'Titin mutations and female sex characterize dilated cardiomyopathy in the elderly', EUROPEAN HEART JOURNAL SUPPLEMENTS, 23, pp. G153 - +, http://dx.doi.org/10.1093/eurheartj/suab142.006

Xu H; Cole JW; Gaynor B; Ryan K; Mitchell BD; Rundek T; Worrall BB; Ellinor PT; Fatkin D; Lubitz SA; Pare G; Leifer D, 2021, 'Abstract 9924: Polygenic Risk Score for PR Interval is Associated with Increased Risk of Ischemic Stroke', Circulation, 144, pp. a9924 - a9924, http://dx.doi.org/10.1161/circ.144.suppl_1.9924

Gigli M; Stolfo D; Graw SL; Merlo M; Gregorio C; Nee Chen S; Dal Ferro M; Paldinomd A; De Angelis G; Brun F; Jirikowic J; Salcedo EE; Turja S; Fatkin D; Johnson R; Van Tintelen JP; Te Riele ASJM; Wilde AAM; Lakdawala NK; Picard K; Miani D; Muser D; Maria Severini G; Calkins H; James CA; Murray B; Tichnell C; Parikh VN; Ashley EA; Reuter C; Song J; Judge DP; McKenna WJ; Taylor MRG; Sinagra G; Mestroni L, 2021, 'Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants', Circulation, 144, pp. 1600 - 1611, http://dx.doi.org/10.1161/CIRCULATIONAHA.121.053521

McGrath-Cadell L; Hesselson S; Tarr I; Iismaa SE; Bax M; Junday K; Dunwoodie SE; Fatkin D; Kovacic J; Muller DWM; Giannoulatou E; Graham RM, 2021, 'Spontaneous Coronary Artery Dissection (SCAD) and a family history of aortic artery dissection, a case series', European Heart Journal, 42, http://dx.doi.org/10.1093/eurheartj/ehab724.2787

Patel PN; Ito K; Willcox JAL; Haghighi A; Jang MY; Gorham JM; Depalma SR; Lam L; McDonough B; Johnson R; Lakdawala NK; Roberts A; Barton PJR; Cook SA; Fatkin D; Seidman CE; Seidman JG, 2021, 'Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy', Circulation: Genomic and Precision Medicine, 14, pp. E003389, http://dx.doi.org/10.1161/CIRCGEN.121.003389

Giudicessi JR; Ackerman MJ; Fatkin D; Kovacic JC, 2021, 'Precision Medicine Approaches to Cardiac Arrhythmias: JACC Focus Seminar 4/5 (vol 77, pg 2573, 2021)', JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 78, http://dx.doi.org/10.1016/j.jacc.2021.05.032

Fatkin D; Calkins H; Elliott P; James CA; Peters S; Kovacic JC, 2021, 'Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies: JACC Focus Seminar 3/5', Journal of the American College of Cardiology, 77, pp. 2551 - 2572, http://dx.doi.org/10.1016/j.jacc.2020.12.072

Giudicessi JR; Ackerman MJ; Fatkin D; Kovacic JC, 2021, 'Precision Medicine Approaches to Cardiac Arrhythmias: JACC Focus Seminar 4/5', Journal of the American College of Cardiology, 77, pp. 2573 - 2591, http://dx.doi.org/10.1016/j.jacc.2021.03.325

Pineda S; Nikolova-Krstevski V; Leimena C; Atkinson AJ; Altekoester AK; Cox CD; Jacoby A; Huttner IG; Ju YK; Soka M; Ohanian M; Trivedi G; Kalvakuri S; Birker K; Johnson R; Molenaar P; Kuchar D; Allen DG; Van Helden DF; Harvey RP; Hill AP; Bodmer R; Vogler G; Dobrzynski H; Ocorr K; Fatkin D, 2021, 'Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, KCa1.1, in Sinus Node Function and Arrhythmia Risk', Circulation: Genomic and Precision Medicine, 14, pp. E003144, http://dx.doi.org/10.1161/CIRCGEN.120.003144

Yu ZY; Gong H; Wu J; Dai Y; Kesteven SH; Fatkin D; Martinac B; Graham RM; Feneley MP, 2021, 'Cardiac Gq Receptors and Calcineurin Activation Are Not Required for the Hypertrophic Response to Mechanical Left Ventricular Pressure Overload', Frontiers in Cell and Developmental Biology, 9, http://dx.doi.org/10.3389/fcell.2021.639509


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