Bernard Keavney, BSc BM BCh DM FRCP

Search results

• 2023

  Institutional, organisational, and innovation management factors impacting on the routes to adoption of pharmacogenomics and/or pharmacogenetics in clinical practice: a mixed methods systematic review protocol

  Ramlogan, R., Gagliardi, D., Akintola, A., Venetucci, L., Keavney, B., Pirmohamed, M., Russo, C. & Brown, A., 28 Mar 2023

  Research output: Other contribution
• 2022

  A review of causal discovery methods for molecular network analysis

  Kelly, J., Berzuini, C., Keavney, B., Tomaszewski, M. & Guo, H., 1 Oct 2022, In: Molecular Genetics and Genomic Medicine. 10, 10, e2055.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Analysis 100%
  • Tamsulosin 100%
  • Phenotype 100%
  • Researcher 100%
  • Causality 100%

• Atrial Septal Defect (ASD) associated long non-coding RNA STX18-AS1 maintains time-course of in vitro cardiomyocyte differentiation

  Liu, Y., Choy, M., Abraham, S., Tenin, G., Black, G. C. & Keavney, B. D., 8 Aug 2022, In: Genes & Diseases.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• BS13 Genome-wide association study coupled with promoter interactomic data identifies neuroplastin (NPTN) as a potential novel gene regulating heart rate

  Choy, M-K., Liu, Y., Williams, S., Eales, J. & Keavney, B., Jun 2022.

  Research output: Contribution to conference › Abstract

  • Promoter Region 100%
  • Embryonic Stem Cell 85%
  • Nested Gene 57%
  • HCN4 57%
  • Gene Expression 42%

• BS38 Long noncoding RNA STX18-AS1 regulates in vitro cardiomyocyte differentiation

  Liu, Y. & Keavney, B., Jun 2022.

  Research output: Contribution to conference › Abstract

  • Cells 100%
  • Cardiomyocyte 33%
  • Cardiac Muscle Cell 33%
  • In Vitro 25%
  • Differentiation 25%

• Discovery methods for systematic analysis of causal molecular networks in modern omics datasets

  Kelly, J., Berzuini, C., Keavney, B., Tomaszewski, M. & Guo, H., 2022

  Research output: Other contribution › peer-review

• Investigation of Copy Number Variation in South African Patients with Congenital Heart Defects

  Saacks, N., Eales, J., Spracklen, T., Aldersley, T., Human, P., Verryn, M., Lawrenson, J. G., Cupido, B., Comitis, G., De Decker, R., Fourie, B., Swanson, L., Joachim, A., Brooks, A., Ramesar, R. S., Shaboodien, G., Keavney, B. & Zuhlke, L., 11 Mar 2022, (Accepted/In press) In: Circulation: Genomic and precision medicine.

  Research output: Contribution to journal › Article › peer-review

  • Nested Gene 100%
  • Candidate Gene 66%
  • Development 33%
  • Electric Potential 33%
  • Genetics 33%

• Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot

  Chelu, A., Williams, S., Keavney, B. D. & Talavera, D., 20 Jun 2022, In: Journal of Human Genetics.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Gene 100%
  • Nested Gene 91%
  • Analysis 33%
  • Joint 25%
  • Tetralogy of Fallot 25%

• Significantly increased risk of chronic obstructive pulmonary disease amongst adults with predominantly mild congenital heart disease

  Byrne, D., Williams, S., Nakev, A., Frain, S., Baross, S., Vestbo, J., Keavney, B. & Talavera, D., 4 Nov 2022, In: Scientific Reports. 12, 1, 18703.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Persistent Truncus Arteriosus 100%
  • Congenital Heart Disease 100%
  • Adult 75%
  • Chronic Obstructive Pulmonary Disease 75%
  • Obstructive Lung Disease 75%
• 2021

  A novel RNA-mediated mechanism causing down-regulation of insulating promoter interactions in human embryonic stem cells

  Liu, Y., Williams, S., Jones, H., Keavney, B. & Choy, M-K., 1 Dec 2021, In: Scientific Reports. 11, 23233.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Promoter Region 100%
  • RNA 81%
  • CTCF 45%
  • MSX1 45%
  • Nested Gene 36%

• Circulating ceramides as biomarkers of cardiovascular disease: evidence from phenotypic and genomic studies.

  McGurk, K., Keavney, B. & Nicolaou, A., 6 May 2021, In: Atherosclerosis. 327, p. 18-30 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ceramide 100%
  • Biological Marker 13%
  • Association 9%
  • Apoptosis 9%
  • Insulin Resistance 9%

• Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot

  Reuter, M., Chaturvedi, R., Jobling, R., Pellecchia, G., Hamdan, O., Chung, W., Nalpathamkalam, T., Silversides, C., Wald, R., Marshall, C., Williams, S., Keavney, B., Thiruvahindrapuram, B., Scherer, S. & Bassett, A., Aug 2021, In: Circulation: Genomic and precision medicine. 14, 4, p. 476-484 e003410.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Tetralogy of Fallot 100%
  • Nested Gene 71%
  • Notch 57%
  • Persistent Truncus Arteriosus 42%

• Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome

  McGurk, K., Williams, S., Guo, H., Watkins, H., Farrall, M., Cordell, H. J., Nicolaou, A. & Keavney, B., 15 Mar 2021, In: Human Molecular Genetics.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ceramide 100%
  • Sample 66%
  • Genome Wide Association Study 66%
  • Association 50%
  • Lipid 50%

• PROTEA, A Southern African Multicenter Congenital Heart Disease Registry and Biorepository: Rationale, Design, and Initial Results

  Aldersley, T., Lawrenson, J., Human, P., Shaboodien, G., Cupido, B., Comitis, G., De Decker, R., Fourie, B., Swanson, L., Joachim, A., Magadla, P., Ngoepe, M., Swanson, L., Revell, A., Ramesar, R., Brooks, A., Saacks, N., De Koning, B., Sliwa, K., Anthony, J., & 3 othersOsman, A., Keavney, B. & Zühlke, L., 20 Oct 2021, In: Frontiers in pediatrics. 9

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Persistent Truncus Arteriosus 100%
  • Congenital Heart Disease 100%
  • Prevalence 64%
  • Time 21%
  • Patient 14%
  43 Downloads (Pure)

• Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes

  Williams, S., Byrne, D. & Keavney, B., 7 Sep 2021, In: Journal of Human Genetics. 66

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Persistent Truncus Arteriosus 100%
  • Phenotype 75%
  • Transcription Factor GATA 6 75%
  • GATA6 75%
  • Association 50%

• Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes

  Williams, S. G., Byrne, D. & Keavney, B. D., 8 May 2021, In: medRxiv.

  Research output: Contribution to journal › Article

• Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

  Škorić-Milosavljević, D., Lahrouchi, N., Bosada, FM., Dombrowsky, G., Williams, SG., Lesurf, R., Tjong, FVY., Walsh, R., El, B. I., Breckpot, J., Audain, E., Bezzina, CR. & Keavney, B., 10 Jun 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Tetralogy of Fallot 100%
  • Exome Sequencing 50%
  • Vasculotropin Receptor 2 50%
  • Vascular Endothelial Growth Factor 37%
  • Growth Factor Receptor 37%
  32 Downloads (Pure)

• The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases

  Monaghan, R. M., Page, D. J., Ostergaard, P. & Keavney, B. D., 7 Jul 2021, In: Cardiovascular research. 117, 8, p. 1877-1890 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Development 100%
  • FLT4 75%
  • Heart Development 50%
  • Lymph Duct 50%
  • Milroy's Disease 50%
  1 Downloads (Pure)

• Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney

  Eales, J., Jiang, X., Xu, X., Saluja, S., Akbarov, A., Cano-Gomez, E., McNulty, M. T., Finan, C., Guo, H., Wystrychowski, W., Szulinska, M., Thomas, H., Pramanik, S., Chopade, S., Prestes, P. R., Wise, I., Evangelou, E., Salehi, M., Shakanti, Y., Ekholm, M., & 30 othersDenniff, M., Nazgiewicz, A., Eichinger, F., Godfrey, B., Antczak, A., Glyda, M., Król, R., Eyre, S., Brown, J., Berzuini, C., Bowes, J., Caulfield, M., Zukowska-Szczechowska, E., Zywiec, J., Bogdanski, P., Kretzler, M., Woolf, A. S., Talavera, D., Keavney, B., Maffia, P., Guzik, T. J., O'Keefe, R., Trynka, G., Samani, N. J., Hingorani, A. D., Sampson, M. G., Morris, A. P., Charchar, F. J., Tomaszewski, M. & Morris, A., 6 May 2021, In: Nature Genetics. 53, 5, p. 630–637 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Blood Pressure 100%
  • Nested Gene 50%
  • Genome-Wide Association Study 50%
  • Mendelian Randomization 33%
  • Gene Expression 16%
  54 Downloads (Pure)
• 2020

  A Patient-Specific CFD Pipeline Using Doppler Echocardiography for Application in Coarctation of the Aorta in a Limited Resource Clinical Context

  Swanson, L., Owen, B., Keshmiri, A., Deyranlou, A., Aldersley, T., Lawrenson, J., Human, P., De Decker, R., Fourie, B., Comitis, G., Engel, M. E., Keavney, B., Zühlke, L., Ngoepe, M. & Revell, A., 3 Jun 2020, In: Frontiers in Bioengineering and Biotechnology. 8, 409.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Coarctation of the Aorta 100%
  • Persistent Truncus Arteriosus 60%
  • Dynamics 60%
  • Liquid 60%
  • Patient 40%

• Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank

  Williams, S., Nakev, A., Guo, H., Frain, S., Tenin, G., Liakhovitskaia, A., Priest, J., Hentges, K. & Keavney, B., 1 Sep 2020, In: European Journal of Human Genetics. 28, p. 1265–1273

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Phenotype 100%
  • Association 100%
  • Chromosome 20%
  • Cognition 20%
  • Prevalence 20%

• CMV-independent increase in CD27−CD28+ CD8+ EMRA T cells is inversely related to mortality in octogenarians

  Martin-Ruiz, C., Hoffmann, J., Shmeleva, E., Zglinicki, T. V., Richardson, G., Draganova, L., Redgrave, R., Collerton, J., Arthur, H., Keavney, B. & Spyridopoulos, I., 21 Jan 2020, (E-pub ahead of print) In: npj Aging and Mechanisms of Disease. 6, 1, 3.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • CD8 100%
  • Cardiovascular System 60%
  • Cytomegalovirus 60%
  • T Lymphocyte 60%
  • Hazard Ratio 60%

• Global prevalence of Congenital Heart Disease in school-age children: a meta-analysis and systematic review

  Liu, Y., Chen, S., Zuhlke, L., Babu-Narayan, S. V., Black, G., Choy, M-K., Li, N. & Keavney, B., 19 Nov 2020, In: B M C Cardiovascular Disorders. 20

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Congenital Heart Disease 100%
  • Prevalence 60%
  • Age 60%
  • Children 53%
  • Diagnosis 33%

• Heritability of haemodynamics in the ascending aorta

  McGurk, K., Owen, B., Watson, W., Nethononda, R., Cordell, H. J., Farrall, M., Rider, O. J., Watkins, H., Revell, A. & Keavney, B., 1 Sep 2020, In: Scientific Reports. 10, 14356.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Heritability 100%
  • Blood Flow 66%
  • Cardiovascular Disease 66%
  • Flow 50%
  • Cardiac Magnetic Resonance Imaging 50%

• Hypertension and renin-angiotensin system blockers are not associated with expression of angiotensin-converting enzyme 2 (ACE2) in the kidney

  Jiang, X., Eales, J. M., Scannali, D., Nazgiewicz, A., Prestes, P., Maier, M., Denniff, M., Xu, X., Saluja, S., Cano-Gamez, E., Wystrychowski, W., Szulinska, M., Antczak, A., Byars, S., Skrypnik, D., Glyda, M., Król, R., Zywiec, J., Zukowska-Szczechowska, E., Burrell, L. M., & 13 othersWoolf, A. S., Greenstein, A., Bogdanski, P., Keavney, B., Morris, A. P., Heagerty, A., Williams, B., Harrap, S. B., Trynka, G., Samani, N. J., Guzik, T. J., Charchar, F. J. & Tomaszewski, M., 27 Oct 2020, In: European Heart Journal . 41, 48, p. 4580-4588 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Angiotensin Converting Enzyme 2 100%
  • Kidney 66%
  • Hypertension 44%
  • Severe Acute Respiratory Syndrome Coronavirus 2 44%
  • Renin Angiotensin Aldosterone System 33%

• Identification of a POLG Variant in a Family with Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis

  Spracklen, T., Kasher, P., Kraus, S., Botha, T., Page, D., Kamuli, S., Booi, Z., Chin, A., Laing, N., Keavney, B., Ntusi, N. & Shaboodien, G., 4 Dec 2020, In: Circulation: Genomic and precision medicine.

  Research output: Contribution to journal › Letter › peer-review

• Identification of the major genetic contributors to Tetralogy of Fallot

  Monaghan, R. M., Paige, D. J. & Keavney, B. D., Dec 2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 286-286

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Investigating the role of KMT2C in heart development

  Borland, S. C., Tenin, G., Monaghan, R., Williams, S., Zi, M., Wilson, C., Prehar, S., Cartwright, E., Abraham, S. & Keavney, B., Dec 2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 42-42 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• The Open Science of Atrial Fibrillation

  Keavney, B. & McGurk, K., 17 Jan 2020, In: Circulation research. 126, p. 210 211 p.

  Research output: Contribution to journal › Editorial › peer-review

• The use of missing values in proteomic data-independent acquisition mass spectrometry to enable disease activity discrimination

  McGurk, K., Dagliati, A., Chiasserini, D., Lee, D., Plant, D., Baricevic-Jones, I., Kelsall, J., Eineman, R., Reed, R., Geary, B., Unwin, R., Nicolaou, A., Keavney, B., Barton, A., Whetton, A. & Geifman, N., 1 Apr 2020, In: Bioinformatics. 36, 7, p. 2217-2223 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Protein 100%
  • Proteomics 66%
  • Time 66%
  • Mass Spectrometry 66%
  • Peptide 66%

• Vector-based discrete element method for solid elastic materials

  Owen, B., Nasar, A., Harwood, A., Hewitt, S., Bojdo, N., Keavney, B., Rogers, B. D. & Revell, A., 4 May 2020, (Accepted/In press) In: Computer Physics Communications.

  Research output: Contribution to journal › Article › peer-review

  • Discrete Element Method 100%
  • Model 75%
  • Deformation 75%
  • Continuum Mechanics 75%
  • Elastic Bodies 75%
• 2019

  Chicken or Egg in the UK Biobank?

  Keavney, B., 15 Mar 2019, In: Circulation research. 124, 6, p. 830-831 2 p.

  Research output: Contribution to journal › Comment/debate › peer-review

• Does rhythm matter in Acute Heart Failure? an insight from the British Society for Heart Failure National Audit

  Anderson, S., Shoaib, A., Myint, P. K., Cleland, J., Hardman, S. M., McDonagh, T., Dargie, H., Keavney, B., Garratt, C. & Mamas, M., 2019, In: Clinical Research in Cardiology.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Atrial Fibrillation 100%
  • Acute Heart Failure 70%
  • Acute Decompensated Heart Failure 70%
  • Patient 60%
  • Discharge 60%

• Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease

  Testori, A., Lasorsa, V. A., Cimmino, F., Cantalupo, S., Cardinale, A., Avitabile, M., Limongelli, G., Russo, M. G., Diskin, S., Maris, J., Devoto, M., Keavney, B., Cordell, H. J., Iolascon, A. & Capasso, M., 30 Aug 2019, In: Genes. 10, 9

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ganglioneuroblastoma 100%
  • Single Nucleotide Polymorphism 57%
  • Single-Nucleotide Polymorphism 57%
  • Lead 42%
  • Persistent Truncus Arteriosus 42%

• Global birth prevalence of congenital heart defects 1970- 2017: updated systematic review and meta-analysis of 260 studies

  Liu, Y., Chen, S., Zuhlke, L., Black, G., Choy, M-K., Li, N. & Keavney, B., 19 Feb 2019, In: International Journal of Epidemiology. 48, 2, p. 455-463 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Prevalence 100%
  • Persistent Truncus Arteriosus 83%
  • Congenital Heart Disease 83%
  • Birth 41%
  • Childbirth 33%

• Heritability and family-based GWAS analyses of the circulating ceramide, endocannabinoid, and N-acyl ethanolamide lipidome

  McGurk, K., Keavney, B. & Nicolaou, A., 2019.

  Research output: Contribution to conference › Abstract › peer-review

• IDENTIFICATION OF THE MAJOR GENETIC CONTRIBUTORS TO TETRALOGY OF FALLOT

  Page, D. J., Miossec, M. J., Williams, S. G., Monaghan, R. M., Fotiou, E., Cordell, H. J., Sutcliffe, L., Topf, A., Bourgey, M., Bourque, G., Eveleigh, R., Dunwoodie, S. L., Winlaw, D. S., Bhattacharya, S., Breckpot, J., Devriendt, K., Gewillig, M., Brook, D., Setchfield, K., Bu'Lock, F. A., & 14 othersO'Sullivan, J., Stuart, G., Bezzina, C., Mulder, B. J. M., Postma, A. V., Bentham, J. R., Baron, M., Bhaskar, S. S., Black, G. C., Newman, W. G., Hentges, K. E., Lathrop, M., Santibanez-Koref, M. & Keavney, B. D., May 2019, In: Heart. 105, p. A182-A183

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease

  Fotiou, E., Williams, S., Martin-Geary, A., Robertson, D., Tenin, BSc, MSc, PhD, G., Hentges, K. & Keavney, B., 2019, In: Circulation.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Nested Gene 100%
  • Gene Locus 75%
  • Candidate Gene 50%
  • Exome Sequencing 50%
  • Protein 25%

• KMT2C-A TETRALOGY OF FALLOT CANDIDATE GENE

  Borland, S., Tenin, G., Williams, S., Monaghan, R., Baxter, M., Ray, D., Abraham, S. & Keavney, B., May 2019, In: Heart. 105, p. A145-A146

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Marked variation in heritability estimates of left ventricular mass depending on modality of measurement

  Nethononda, R., McGurk, K., Whitworth, P., Francis, J., Mamasoula, C., Cordell, H., Neubauer, S., Keavney, B., Mayosi, B., Farrall, M. & Watkins, H., 19 Sep 2019, In: Scientific Reports. 9

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Heritability 100%
  • Electrocardiogram 75%
  • Heart Left Ventricle Mass 75%
  • Measurement 50%
  • Single Nucleotide Polymorphism 25%

• Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation

  Gurumurthy, C. B., O'Brien, A. R., Quadros, R. M., Adams, J., Alcaide, P., Ayabe, S., Ballard, J., Batra, S. K., Beauchamp, M-C., Becker, K. A., Bernas, G., Brough, D., Carrillo-Salinas, F., Chan, W., Chen, H., Dawson, R., Demambro, V., D'Hont, J., Dibb, K. M., Eudy, J. D., & 93 othersGan, L., Gao, J., Gonzales, A., Guntur, A. R., Guo, H., Harms, D. W., Harrington, A., Hentges, K. E., Humphreys, N., Imai, S., Ishii, H., Iwama, M., Jonasch, E., Karolak, M., Keavney, B., Khin, N-C., Konno, M., Kotani, Y., Kunihiro, Y., Lakshmanan, I., Larochelle, C., Lawrence, C. B., Li, L., Lindner, V., Liu, X-D., Lopez-Castejon, G., Loudon, A., Lowe, J., Jerome-Majewska, L. A., Matsusaka, T., Miura, H., Miyasaka, Y., Morpurgo, B., Motyl, K., Nabeshima, Y-I., Nakade, K., Nakashiba, T., Nakashima, K., Obata, Y., Ogiwara, S., Ouellet, M., Oxburgh, L., Piltz, S., Pinz, I., Ponnusamy, M. P., Ray, D., Redder, R. J., Rosen, C. J., Ross, N., Ruhe, M. T., Ryzhova, L., Salvador, A. M., Alam, S. S., Sedlacek, R., Sharma, K., Smith, C., Staes, K., Starrs, L., Sugiyama, F., Takahashi, S., Tanaka, T., Trafford, A. W., Uno, Y., Vanhoutte, L., Vanrockeghem, F., Willis, B. J., Wright, C. S., Yamauchi, Y., Yi, X., Yoshimi, K., Zhang, X., Zhang, Y., Ohtsuka, M., Das, S., Garry, D. J., Hochepied, T., Thomas, P., Parker-Thornburg, J., Adamson, A. D., Yoshiki, A., Schmouth, J-F., Golovko, A., Thompson, W. R., Lloyd, K. C. K., Wood, J. A., Cowan, M., Mashimo, T., Mizuno, S., Zhu, H., Kasparek, P., Liaw, L., Miano, J. M. & Burgio, G., 2019, In: Genome biology. 20, 1, 171.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Allele 100%
  • Mouse 75%
  • DNA 50%
  • Time 25%
  • Knockout Mouse 25%

• Scientific Business Abstracts of the 113th Annual Meeting of the Association of Physicians of Great Britain and Ireland

  DDD Study & CHANGE Study Collaborators, CheartED Study Collaborators, 1 Sep 2019, In: QJM : monthly journal of the Association of Physicians. 112, 9, p. 724-729 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Scientific Business Abstracts of the 113th Annual Meeting of the Association of Physicians of Great Britain and Ireland: (4) STX18-AS1 is an lncRNA governing in vitro cardiomyocyte differentiation and predisposing to atrial septal defect via downregulation of NKX2-5

  Liu, Y., Choy, M-K., Tenin, G., Abraham, S., C. Black, G. & Keavney, B., 1 Sep 2019, p. 724–729. 6 p.

  Research output: Contribution to conference › Abstract

  • Genome Wide Association Study 100%
  • Cardiomyocyte 100%
  • Atrial Septal Defect 100%
  • Long Untranslated RNA 100%
  • Association 66%

• The human Y chromosome exerts pleiotropic effects on susceptibility to atherosclerosis

  Eales, J., Xu, X., Keavney, B., Tomaszewski, M. & et al., 5 Sep 2019, In: Arteriosclerosis, Thrombosis and Vascular Biology. 39, p. 2386–2401

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Haplogroup 100%
  • Y Chromosome 30%
  • Reduction (Chemistry) 20%
  • Chromatin 20%
  • Sequencing 10%

• Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

  Page, D. J., Miossec, M. J., Williams, S. G., Monaghan, R. M., Fotiou, E., Cordell, H. J., Sutcliffe, L., Topf, A., Bourgey, M., Bourque, G., Eveleigh, R., Dunwoodie, S. L., Winlaw, D. S., Bhattacharya, S., Breckpot, J., Devriendt, K., Gewillig, M., Brook, J. D., Setchfield, K. J., Bu'Lock, F. A., & 14 othersO'Sullivan, J., Stuart, G., Bezzina, C. R., Mulder, B. J. M., Postma, A. V., Bentham, J. R., Baron, M., Bhaskar, S. S., Black, G. C., Newman, W. G., Hentges, K. E., Lathrop, G. M., Santibanez-Koref, M. & Keavney, B. D., 15 Feb 2019, In: Circulation research. 124, 4, p. 553-563 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • FLT4 100%
  • Nested Gene 75%
  • Exome Sequencing 75%
  • Genetics 50%
  • Genetic Divergence 50%
  42 Downloads (Pure)
• 2018

  Author Correction: Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks

  Choy, M-K., Javierre, B. M., Williams, S., Baross, S., Liu, Y., Wingett, S. W., Akbarov, A., Wallace, C., Freire-Pritchett, P., Rugg-Gunn, P. J., Spivakov, M., Fraser, P. & Keavney, B., Dec 2018, In: Nature Communications.

  Research output: Contribution to journal › Article › peer-review

• Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

  Page, DJ., Miossec, MJ., Williams, SG., Fotiou, E., Monaghan, RM., Cordell, HJ., Sutcliffe, L., Topf, A., Bourgey, M., Bourque, G., Eveleigh, R., Dunwoodie, SL., Winlaw, DS., Keavney, BD. & Newman, W., Apr 2018

  Research output: Other contribution › peer-review

• Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

  Keavney, B., Tomaszewski, M., Morris, A. & et al, 1 Oct 2018, In: Nature Genetics. 50, 10, p. 1412-1425 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Blood Pressure 100%
  • Blood Pressure Regulation 40%
  • Introspection 20%
  • Electric Potential 20%
  • Genetics 20%
  186 Downloads (Pure)

• Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention

  Rutter, M., Keavney, B. & al, E., 16 Oct 2018, In: Journal of the American College of Cardiology. 72, 16, p. 1883-1893 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Coronary Artery Disease 100%
  • Hazard Ratio 27%
  • Electric Potential 27%
  • Life 18%
  • Screening 18%
  114 Downloads (Pure)

• Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks

  Choy, M-K., Javierre, B. M., Williams, S., Baross, S., Liu, Y., Wingett, S. W., Akbarov, A., Wallace, C., Freire-Pritchett, P., Rugg-Gunn, P. J., Spivakov, M., Fraser, P. & Keavney, B., 28 Jun 2018, In: Nature Communications.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Embryonic Stem Cell 100%
  • Promoter Region 100%
  • Genome-Wide Association Study 50%
  • Interactome 33%
  • Regulatory Element 33%
  1 Downloads (Pure)