Dr Renee Johnson

Dr Renee Johnson

Conjoint Lecturer
Medicine & Health
School of Clinical Medicine

Renee Johnson graduated with a Doctor of Philosophy in Reproductive Medicine from the University of Newcastle, Australia in 2006 after completing her undergraduate Science degree there in 2000. She undertook post-doctoral work in the UK as part of the laboratory of Professor Neil Perkins studying the role of the NFkB system in cancer cells between 2006 and 2011. 

Returning to Australia in 2012 Dr Johnson completed a Master of Genetic Counselling degree at Sydney University. Developing an interest in cardiac genetics Dr Johnson joined the Victor Chang Cardiac Research Institute in 2013 as a member of the Sr Bernice Research Program in Inherited Heart Disease team under Professor Diane Fatkin. 

Dr Johnson works as clinical research coordinator and associate genetic counsellor with a particular focus on dilated cardiomyopathy and atrial fibrillation. She is currently involved in research into genetic causes of dilated cardiomyopathy and atrial fibrillation and provides genetic counselling to participating research families and attendees of the Cardiac Genomics Clinic held in conjunction with the Clinical Genomics unit and Cardiology Department at St Vincent’s Hospital Sydney.

Phone
+61-2-92958767
Location
Victor Chang Cardiac Research Institute 405 Liverpool St Darlinghurst NSW 2010
  • Book Chapters | 2021
    Richardson E; Johnson R; Ingles J, 2021, 'Inherited cardiomyopathies', in Clinical DNA Variant Interpretation: Theory and Practice: A Volume in Translational and Applied Genomics, pp. 277 - 290, http://dx.doi.org/10.1016/B978-0-12-820519-8.00008-9
  • Journal articles | 2024
    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; Van Soest S; Bekhuis Y; Pauwels R; De Paepe J; Hespel P; Dymarkowski S; Dresselaers T; Miljoen H; Favere K; Paelinck B; Vermeulen D; Witvrouwen I; Hansen D; Op'T Eijnde B; Thijs D; Vanvoorden P; Lefebvre K; D'Ambrosio P; Rowe S; Paratz E; Brosnan MJ; Prior DL, 2024, 'Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap with Dilated Cardiomyopathy', Circulation, 149, pp. 1405 - 1415, http://dx.doi.org/10.1161/CIRCULATIONAHA.122.063777
    Journal articles | 2024
    Gorrie N; Johnson R; Ohanian M; Soka M; Bart N; Fatkin D, 2024, 'Investigating the Role of Genes and the Environment in Heart Failure With Preserved Ejection Fraction', Heart, Lung and Circulation, 33, pp. S129 - S130, http://dx.doi.org/10.1016/j.hlc.2024.06.019
    Journal articles | 2024
    Gorrie N; Johnson R; Ohanian M; Soka M; Bart N; Fatkin D, 2024, 'Rare Genetic Variants in Heart Failure with Preserved Ejection Fraction (HFpEF)', Heart, Lung and Circulation, 33, pp. S104 - S105, http://dx.doi.org/10.1016/j.hlc.2024.04.185
    Journal articles | 2024
    Kessler Iglesias C; Poliopoulos J; Situ Y; Johnson R; Hayward C; Jabbour A; Fatkin D, 2024, 'Early diagnosis of Titin Cardiomyopathy', Heart, Lung and Circulation, 33, pp. S310 - S310, http://dx.doi.org/10.1016/j.hlc.2024.06.401
    Journal articles | 2024
    Kessler Iglesias C; Poliopoulos J; Situ Y; Johnson R; Rigas G; Lord R; Martin D; Hayward C; Fatkin D; Jabbour A, 2024, 'Deep Phenotyping of Obesity Cardiomyopathy', Heart, Lung and Circulation, 33, pp. S180 - S180, http://dx.doi.org/10.1016/j.hlc.2024.06.119
    Journal articles | 2024
    Spencer L; Janssens K; Mitchell A; Ohanian M; Johnson R; Soka M; Young P; Giannoulatou E; Lacaze P; D'Ambrosio P; Rowe S; Van Puyvelde T; Claessens G; Fatkin D; La Gerche A, 2024, 'Genetic and Echocardiographic Determinants of Atrial Fibrillation in Athletes', Heart, Lung and Circulation, 33, pp. S129 - S129, http://dx.doi.org/10.1016/j.hlc.2024.06.018
    Journal articles | 2024
    Thompson JLM; Johnson R; Troup M; Rath EM; Young PE; Soka MJ; Ohanian M; Tarr IS; Giannoulatou E; Fatkin D, 2024, 'Polygenic Risk in Families with Dilated Cardiomyopathy', Circulation: Genomic and Precision Medicine, 17, pp. e004558, http://dx.doi.org/10.1161/CIRCGEN.124.004558
    Journal articles | 2024
    Weng LC; Khurshid S; Hall AW; Nauffal V; Morrill VN; Sun YV; Rämö JT; Beer D; Lee S; Nadkarni G; Johnson R; Andreasen L; Clayton A; Pullinger CR; Yoneda ZT; Friedman DJ; Hyman MC; Judy RL; Skanes AC; Orland KM; Jordà P; Treu TM; Oetjens MT; Subbiah R; Hartmann JP; May HT; Kane JP; Issa TZ; Nafissi NA; Leong-Sit P; Dubé MP; Roselli C; Choi SH; Tardif JC; Khan HR; Knight S; Svendsen JH; Walker B; Linnér RK; Gaziano JM; Tadros R; Fatkin D; Rader DJ; Shah SH; Roden DM; Marcus GM; Loos RJF; Damrauer SM; Haggerty CM; Cho K; Palotie A; Olesen MS; Eckhardt LL; Roberts JD; Cutler MJ; Shoemaker MB; Wilson PWF; Ellinor PT; Lubitz SA, 2024, 'Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias', Circulation: Genomic and Precision Medicine, 17, pp. e004320, http://dx.doi.org/10.1161/CIRCGEN.123.004320
    Journal articles | 2023
    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
    Journal articles | 2023
    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
    Journal articles | 2023
    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
    Journal articles | 2023
    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
    Journal articles | 2023
    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
    Journal articles | 2023
    Peters S; Yao J; McCall L; Huynh Q; Johnson R; Thompson B; Thompson T; Zentner D; James P; Kalman J; Marwick T; Fatkin D, 2023, 'Environmental Factors Influence the Natural History of Genetic Dilated Cardiomyopathy', Heart, Lung and Circulation, 32, pp. S113 - S113, http://dx.doi.org/10.1016/j.hlc.2023.06.731
    Journal articles | 2022
    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
    Journal articles | 2022
    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
    Journal articles | 2021
    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
    Journal articles | 2021
    Jordan E; Peterson L; Ai T; Asatryan B; Bronicki L; Brown E; Celeghin R; Edwards M; Fan J; Ingles J; James CA; Jarinova O; Johnson R; Judge DP; Lahrouchi N; Lekanne Deprez RH; Lumbers RT; Mazzarotto F; Medeiros Domingo A; Miller RL; Morales A; Murray B; Peters S; Pilichou K; Protonotarios A; Semsarian C; Shah P; Syrris P; Thaxton C; Van Tintelen JP; Walsh R; Wang J; Ware J; Hershberger RE, 2021, 'Evidence-Based Assessment of Genes in Dilated Cardiomyopathy', Circulation, 144, pp. 7 - 19, http://dx.doi.org/10.1161/CIRCULATIONAHA.120.053033
    Journal articles | 2021
    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
    Journal articles | 2021
    Peters S; Johnson R; Zentner D; James P; Kalman JM; Fatkin D, 2021, 'Long-Term Efficacy and Safety of Sodium Channel Antagonists in Patients With p.R222Q SCN5A-Related Arrhythmic Dilated Cardiomyopathy', JACC: Clinical Electrophysiology, 7, pp. 126 - 128, http://dx.doi.org/10.1016/j.jacep.2020.09.023
    Journal articles | 2021
    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
    Journal articles | 2020
    Akhtar MM; Lorenzini M; Cicerchia M; Ochoa JP; Hey TM; Sabater Molina M; Restrepo-Cordoba MA; Dal Ferro M; Stolfo D; Johnson R; Larrañaga-Moreira JM; Robles-Mezcua A; Rodriguez-Palomares JF; Casas G; Peña-Peña ML; Lopes LR; Gallego-Delgado M; Franaszczyk M; Laucey G; Rangel-Sousa D; Basurte M; Palomino-Doza J; Villacorta E; Bilinska Z; Limeres Freire J; Garcia Pinilla JM; Barriales-Villa R; Fatkin D; Sinagra G; Garcia-Pavia P; Gimeno JR; Mogensen J; Monserrat L; Elliott PM, 2020, 'Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene', Circulation: Heart Failure, 13, pp. E006832, http://dx.doi.org/10.1161/CIRCHEARTFAILURE.119.006832
    Journal articles | 2020
    Fatkin D; Johnson R, 2020, 'Variants of Uncertain Significance and “Missing Pathogenicity”', Journal of the American Heart Association, 9, http://dx.doi.org/10.1161/JAHA.119.015588
    Journal articles | 2020
    Peters S; Johnson R; Birch S; Zentner D; Hershberger RE; Fatkin D, 2020, 'Familial Dilated Cardiomyopathy', Heart Lung and Circulation, 29, pp. 566 - 574, http://dx.doi.org/10.1016/j.hlc.2019.11.018
    Journal articles | 2020
    Wong GR; Nalliah CJ; Lee G; Voskoboinik A; Prabhu S; Parameswaran R; Sugumar H; Anderson RD; Ling LH; McLellan A; Johnson R; Sanders P; Kistler PM; Fatkin D; Kalman JM, 2020, 'Genetic Susceptibility to Atrial Fibrillation Is Associated With Atrial Electrical Remodeling and Adverse Post-Ablation Outcome', JACC: Clinical Electrophysiology, 6, pp. 1509 - 1521, http://dx.doi.org/10.1016/j.jacep.2020.05.031
    Journal articles | 2019
    Fatkin D; Huttner IG; Johnson R, 2019, 'Genetics of atrial cardiomyopathy', Current Opinion in Cardiology, 34, pp. 275 - 281, http://dx.doi.org/10.1097/HCO.0000000000000610
    Journal articles | 2019
    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, 21, pp. 133 - 143, http://dx.doi.org/10.1038/s41436-018-0036-2
    Journal articles | 2019
    Johnson R; Peters S; Ingles J; Correnti G; Ingrey A; Mountain H; Zentner D; Thompson T; Oates E; Ronan A; Pachter N; Haan E; Van Spaendonck-Zwarts K; Semsarian C; McGaughran J; Atherton J; James P; Fatkin D, 2019, 'Penetrance of Dilated Cardiomyopathy in Families with Truncating TTN Variants: a National Perspective', Heart, Lung and Circulation, 28, pp. S140 - S140, http://dx.doi.org/10.1016/j.hlc.2019.06.019
    Journal articles | 2019
    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, 21, pp. 650 - 662, http://dx.doi.org/10.1038/s41436-018-0084-7
    Journal articles | 2019
    Wong G; Nalliah C; Voskoboinik A; Lee G; Prabhu S; Sugumar H; Parameswaran R; Anderson R; McLellan A; Ling L; Morton J; Johnson R; Kistler P; Fatkin D; Kalman J, 2019, 'Genetic Susceptibility to Atrial Fibrillation at the chr 4q25 Locus is Associated with Left Atrial Electrical Remodelling', Heart, Lung and Circulation, 28, pp. S132 - S132, http://dx.doi.org/10.1016/j.hlc.2019.06.003
    Journal articles | 2018
    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, 11, pp. e002135, http://dx.doi.org/10.1161/CIRCGEN.118.002135
    Journal articles | 2018
    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
    Journal articles | 2018
    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, 50, pp. 1225 - 1233, http://dx.doi.org/10.1038/s41588-018-0133-9
    Journal articles | 2017
    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, 26, pp. 1127 - 1132, http://dx.doi.org/10.1016/j.hlc.2017.04.021
    Journal articles | 2017
    Fatkin D; Johnson R, 2017, 'Are Double Mutations Double Trouble?', Circulation: Cardiovascular Genetics, 10, http://dx.doi.org/10.1161/CIRCGENETICS.117.001749
    Journal articles | 2017
    Huttner I; Wang L; Santiago C; Horvat C; Johnson R; Cheng D; Braet F; Hesselson D; Feneley M; Fatkin D, 2017, 'A Zebrafish Model of a Human Titin-truncating Mutation Exhibits Spontaneous, Age-dependent and Load-exacerbated Dilated Cardiomyopathy', Heart, Lung and Circulation, 26, pp. S43 - S43, http://dx.doi.org/10.1016/j.hlc.2017.06.002
    Journal articles | 2016
    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, 12, pp. 231 - 242, http://dx.doi.org/10.2174/1573403X12666160606123103
    Journal articles | 2015
    Ingles J; Johnson R; Sarina T; Yeates L; Burns C; Gray B; Ball K; Semsarian C, 2015, 'Social determinants of health in the setting of hypertrophic cardiomyopathy', International Journal of Cardiology, 184, pp. 743 - 749, http://dx.doi.org/10.1016/j.ijcard.2015.03.070
    Journal articles | 2014
    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, 23 Suppl 2, pp. e11 - e12, http://dx.doi.org/10.1016/j.hlc.2014.07.030
    Journal articles | 2014
    Sobinoff AP; Sutherland JM; Beckett EL; Stanger SJ; Johnson R; Jarnicki AG; McCluskey A; St John JC; Hansbro PM; McLaughlin EA, 2014, 'Damaging legacy: maternal cigarette smoking has long-term consequences for male offspring fertility', HUMAN REPRODUCTION, 29, pp. 2719 - 2735, http://dx.doi.org/10.1093/humrep/deu235
    Journal articles | 2012
    Johnson RF; Perkins ND, 2012, 'Nuclear factor-κB, p53, and mitochondria: Regulation of cellular metabolism and the Warburg effect', Trends in Biochemical Sciences, 37, pp. 317 - 324, http://dx.doi.org/10.1016/j.tibs.2012.04.002
    Journal articles | 2011
    Johnson RF; Witzel II; Perkins ND, 2011, 'p53-dependent regulation of mitochondrial energy production by the RelA subunit of NF-κB', Cancer Research, 71, pp. 5588 - 5597, http://dx.doi.org/10.1158/0008-5472.CAN-10-4252
    Journal articles | 2011
    Mitchell C; Johnson R; Bisits A; Hirst J; Zakar T, 2011, 'PTGS2 (prostaglandin endoperoxide synthase-2) expression in term human amnion in vivo involves rapid mRNA turnover, polymerase-II 5′-pausing, and glucocorticoid transrepression', Endocrinology, 152, pp. 2113 - 2122, http://dx.doi.org/10.1210/en.2010-1327
    Journal articles | 2011
    Msaki A; Sánchez AM; Koh LF; Barré B; Rocha S; Perkins ND; Johnson RF, 2011, 'The role of RelA (p65) threonine 505 phosphorylation in the regulation of cell growth, survival, and migration', Molecular Biology of the Cell, 22, pp. 3032 - 3040, http://dx.doi.org/10.1091/mbc.E11-04-0280
    Journal articles | 2008
    Johnson RF; Rennie N; Murphy V; Zakar T; Clifton V; Smith R, 2008, 'Expression of glucocorticoid receptor messenger ribonucleic acid transcripts in the human placenta at term', Journal of Clinical Endocrinology and Metabolism, 93, pp. 4887 - 4893, http://dx.doi.org/10.1210/jc.2008-1077
    Journal articles | 2008
    Mitchell CM; Johnson RF; Giles WB; Zakar T, 2008, 'Prostaglandin H synthase-2 gene regulation in the amnion at labour: Histone acetylation and nuclear factor kappa B binding to the promoter in vivo', Molecular Human Reproduction, 14, pp. 53 - 59, http://dx.doi.org/10.1093/molehr/gam086
    Journal articles | 2006
    Johnson RF; Mitchell CM; Giles WB; Bisits A; Zakar T, 2006, 'Mechanisms regulating prostaglandin H2 synthase-2 mRNA level in the amnion and chorion during pregnancy', Journal of Endocrinology, 188, pp. 603 - 610, http://dx.doi.org/10.1677/joe.1.06488
    Journal articles | 2006
    Murphy VE; Johnson RF; Wang YC; Akinsanya K; Gibson PG; Smith R; Clifton VL, 2006, 'Proteomic study of plasma proteins in pregnant women with asthma', Respirology, 11, pp. 41 - 48, http://dx.doi.org/10.1111/j.1440-1843.2006.00782.x
    Journal articles | 2005
    Murphy VE; Johnson RF; Wang YC; Akinsanya K; Gibson PG; Smith R; Clifton VL, 2005, 'The effect of maternal asthma on placental and cord blood protein profiles', Journal of the Society for Gynecologic Investigation, 12, pp. 349 - 355, http://dx.doi.org/10.1016/j.jsgi.2005.01.024
    Journal articles | 2004
    Johnson RF; Mitchell CM; Clifton V; Zakar T, 2004, 'Regulation of 15-hydroxyprostaglandin dehydrogenase (PGDH) gene activity, messenger ribonucleic acid processing, and protein abundance in the human chorion in late gestation and labor', Journal of Clinical Endocrinology and Metabolism, 89, pp. 5639 - 5648, http://dx.doi.org/10.1210/jc.2004-0540
    Journal articles | 2003
    Johnson RF; Mitchell CM; Giles WB; Walters WA; Zakar T, 2003, 'The Control of Prostaglandin Endoperoxide H-Synthase-2 Expression in the Human Chorion Laeve at Term', Journal of the Society for Gynecologic Investigation, 10, pp. 222 - 230, http://dx.doi.org/10.1016/s1071-55760300046-7
    Journal articles | 2003
    Johnson RF; Mitchell CM; Giles WB; Walters WA; Zakar T, 2003, 'The control of prostaglandin endoperoxide H-synthase-2 expression in the human chorion laeve at term', Journal of the Society for Gynecologic Investigation, 10, pp. 222 - 230, http://dx.doi.org/10.1016/S1071-5576(03)00046-7
    Journal articles | 2002
    Johnson RF; Mitchell CM; Giles WB; Walters WA; Zakar T, 2002, 'The in vivo control of prostaglandin H synthase-2 messenger ribonucleic acid expression in the human amnion at parturition', Journal of Clinical Endocrinology and Metabolism, 87, pp. 2816 - 2823, http://dx.doi.org/10.1210/jcem.87.6.8524
  • Preprints | 2024
    Peters SA; Wright L; Yao J; McCall L; Thompson T; Thompson B; Johnson R; Huynh Q; Santiago CF; Trainer A; Perrin M; James P; Zentner D; Kalman J; Marwick TH; Fatkin D, 2024, Environmental Risk Factors Influence the Natural History of Familial Dilated Cardiomyopathy, http://dx.doi.org/10.1101/2024.06.25.24309501
    Preprints | 2020
    Pineda S; Nikolova-Krstevski V; Leimena C; Atkinson AJ; Altekoester A-K; Cox CD; Jacoby A; Huttner IG; Ju Y-K; Soka M; Ohanian M; Trivedi G; Kalvakuri S; 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, 2020, Conserved Role of the Large Conductance Calcium-Activated Potassium Channel, KCa1.1, in Sinus Node Function and Arrhythmia Risk, http://dx.doi.org/10.1101/2020.06.28.176495

I am a cardiac genetic counsellor and my research focuses on understanding the genetics of inherited heart disease and the impact of genetic testing on the patients and their families.