Publications: Prosir Mark Caulfield

Collier D, Taylor M, Godec T, Shiel J, Saxena M, Patel M, Goldsmith P, Deeming N et al. ( 2024 ) . Do more with less? Impact of personalized very low doses of amlodipine in the PERSONAL-CovidBP trial . European Heart Journal vol. 45 , ( Supplement_1 )

Magavern EF, Deshmukh H, Asselin G, Theusch E, Trompet S, Li X, Noordam R, Caulfield MJ et al. ( 2024 ) . Pharmacogenomics of CRP response to statins: a GIST consortium study . European Heart Journal vol. 45 , ( Supplement_1 )

Hepburn D, Hitchings AW, Wilson K, Bollington L, Magavern E, Caulfield MJ, Maxwell S ( 2024 ) . Importance of the UK Prescribing Safety Assessment as a component of undergraduate medical assessment . British Journal of Clinical Pharmacology

Magavern EF, McDermott JH, Caulfield MJ, Newman WG ( 2024 ) . CYP2C19 genetic testing for Mavacamten and ischaemic stroke treatment: What does the result mean for cardiovascular prescribers in the UK and Europe? . European Heart Journal - Cardiovascular Pharmacotherapy vol. 10 , ( 6 ) 481 - 483 .

Shi S, Rubinacci S, Hu S, Moutsianas L, Stuckey A, Need AC, Palamara PF, Caulfield M et al. ( 2024 ) . A Genomics England haplotype reference panel and imputation of UK Biobank . Nature Genetics vol. 56 , ( 9 ) 1800 - 1803 .

Magavern EF, Kapil V, Saxena M, Gupta A, Caulfield MJ ( 2024 ) . Use of Genomics to Develop Novel Therapeutics and Personalize Hypertension Therapy . Arteriosclerosis Thrombosis and Vascular Biology vol. 44 , ( 4 ) 784 - 793 .

Caulfield M ( 2024 ) . Foreword . Genomic and Molecular Cardiovascular Medicine , Elsevier

Magavern EF, Jacobs B, Warren H, Finocchiaro G, Finer S, Van Heel DA, Smedley D, Caulfield MJ ( 2023 ) . CYP2C19 genotype prevalence and association with recurrent myocardial infarction in British-South Asians treated with clopidogrel . European Heart Journal vol. 44 , ( Supplement_2 )

Magavern EF, Van Heel DA, Smedley D, Caulfield MJ ( 2023 ) . SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort . European Heart Journal vol. 44 , ( Supplement_2 )

Magavern EF, Hitchings A, Bollington L, Wilson K, Hepburn D, Westacott RJ, Sam AH, Caulfield MJ et al. ( 2023 ) . UK Prescribing Safety Assessment (PSA): The development, implementation and outcomes of a national online prescribing assessment . British Journal of Clinical Pharmacology vol. 90 , ( 2 ) 493 - 503 .

Magavern EF, Durrani F, Raza M, Lerner R, Islam MR, Clinch M, Caulfield MJ ( 2023 ) . British South Asian ancestry participants views of pharmacogenomics clinical implementation and research: a thematic analysis . The Pharmacogenomics Journal vol. 23 , ( 6 ) 185 - 194 .

Hartmann S, Yasmeen S, Jacobs BM, Denaxas S, Pirmohamed M, Gamazon ER, Caulfield MJ, Hemingway H et al. ( 2023 ) . ADRA2A and IRX1 are putative risk genes for Raynaud’s phenomenon . Nature Communications vol. 14 , ( 1 )

Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A et al. ( 2023 ) . Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA . American Journal of Human Genetics vol. 110 , ( 11 ) 1903 - 1918 .

Magavern EF, Team GHR, Smedley D, Caulfield MJ ( 2023 ) . Factor V Leiden, estrogen, and multimorbidity association with venous thromboembolism in a British-South Asian cohort . iScience vol. 26 , ( 10 )

Magavern EF, Jacobs B, Warren H, Finocchiaro G, Finer S, van Heel DA, Team GHR, Smedley D et al. ( 2023 ) . CYP2C19 Genotype Prevalence and Association With Recurrent Myocardial Infarction in British–South Asians Treated With Clopidogrel . JACC Advances vol. 2 , ( 7 )

Magavern EF, van Heel DA, Team GHR, Smedley D, Caulfield MJ ( 2023 ) . CYP2C19 loss‐of‐function alleles are not associated with higher prevalence of gastrointestinal bleeds in those who have been prescribed antidepressants: Analysis in a British‐South Asian cohort . British Journal of Clinical Pharmacology vol. 89 , ( 11 ) 3432 - 3438 .

Sadeghi-Alavijeh O, Chan MMY, Moochhala SH, Consortium GER, Ambrose JC, Arumugam P, Bevers R, Bleda M et al. ( 2023 ) . Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease . Kidney International vol. 104 , ( 5 ) 975 - 984 .

Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M et al. ( 2023 ) . Precision medicine in rare diseases: What is next? . Journal of Internal Medicine vol. 294 , ( 4 ) 397 - 412 .

Magavern EF, van Heel DA, Smedley D, Caulfield MJ ( 2023 ) . SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort . The Pharmacogenomics Journal vol. 23 , ( 5 ) 134 - 139 .

Siedlinski M, Carnevale L, Xu X, Carnevale D, Evangelou E, Caulfield MJ, Maffia P, Wardlaw J et al. ( 2023 ) . Genetic analyses identify brain structures related to cognitive impairment associated with elevated blood pressure . European Heart Journal vol. 44 , ( 23 ) 2114 - 2125 .

Magavern EF, Caulfield MJ ( 2023 ) . Equal access to pharmacogenomics testing: The ethical imperative for population‐wide access in the UK NHS . British Journal of Clinical Pharmacology vol. 89 , ( 5 ) 1701 - 1703 .

Dominiczak AF, Padmanabhan S, Caulfield M, Sutherland K, Wang J, Jones JK ( 2023 ) . Introducing Cambridge prisms: Precision medicine . Cambridge Prisms Precision Medicine vol. 1 ,

Magavern E, Smedley D, Caulfield M ( 2023 ) . Factor V Leiden and oestrogen use in the context of multiple common chronic medical conditions: Analysis in the Genes & Health British-South Asian Cohort . BRITISH JOURNAL OF PHARMACOLOGY . vol. 180 , 368 - 371 .

Magavern E, van Heel D, Smedley D, Caulfield M ( 2023 ) . Precision prescribing would not reduce gastrointestinal bleeds associated with CYP2C19 metabolized antidepressants:: Analysis in a British-South Asian cohort . BRITISH JOURNAL OF PHARMACOLOGY . vol. 180 , 365 - 368 .

Wei W, Schon KR, Elgar G, Orioli A, Tanguy M, Giess A, Tischkowitz M, Caulfield MJ et al. ( 2022 ) . Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes . Nature vol. 611 , ( 7934 ) 105 - 114 .

Calabrese C, Pyle A, Griffin H, Coxhead J, Hussain R, Braund PS, Li L, Burgess A et al. ( 2022 ) . Heteroplasmic mitochondrial DNA variants in cardiovascular diseases . PLOS Genetics vol. 18 , ( 4 )

Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G et al. ( 2022 ) . Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy . npj Genomic Medicine vol. 7 , ( 1 )

Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D et al. ( 2022 ) . Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study . The Lancet Neurology vol. 21 , ( 3 ) 234 - 245 .

Horgan D, Borisch B, Cattaneo I, Caulfield M, Chiti A, Chomienne C, Cole A, Facey K et al. ( 2022 ) . Factors Affecting Citizen Trust and Public Engagement Relating to the Generation and Use of Real-World Evidence in Healthcare . International Journal of Environmental Research and Public Health vol. 19 , ( 3 )

Owen N, Toms M, Young RM, Eintracht J, Sarkar H, Brooks BP, Moosajee M, Consortium GER et al. ( 2022 ) . Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis . Genetics in Medicine vol. 24 , ( 5 ) 1073 - 1084 .

Trompet S, Postmus I, Warren HR, Noordam R, Smit RAJ, Theusch E, Li X, Arsenault B et al. ( 2022 ) . The Pharmacogenetics of Statin Therapy on Clinical Events: No Evidence that Genetic Variation Affects Statin Response on Myocardial Infarction . Frontiers in Pharmacology vol. 12 ,

McGuigan A, Whitworth J, Andreou A, Hearn T, Tischkowitz M, Maher ER ( 2022 ) . Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update . European Journal of Human Genetics vol. 30 , ( 3 ) 265 - 270 .

Tooze RS, Hyder Z, Calpena E, Pei Y, Twigg SRF, Cilliers D, Morton JEV, McCann E et al. ( 2022 ) . Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 30 , 51 - 52 .

Collier D, Taylor M, Godec T, Shiel J, James R, Chowdury Y, Ebano P, Monk V et al. ( 2022 ) . Personalized electronic record supported optimisation when alone for patients with hypertension- pilot study for remote medical management of hypertension during the Covid-19 pandemic (personal covidBP) . JOURNAL OF HUMAN HYPERTENSION . vol. 36 , 8 - 8 .

Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M et al. ( 2021 ) . Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations . American Journal of Medical Genetics Part A vol. 188 , ( 3 ) 959 - 964 .

Bacq A, Roussel D, Bonduelle T, Zagaglia S, Maletic M, Ribierre T, Adle‐Biassette H, Marchal C et al. ( 2021 ) . Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy . Annals of Neurology vol. 91 , ( 1 ) 101 - 116 .

Smedley D, Smith KR, Martin AR, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G et al. ( 2021 ) . 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report . New England Journal of Medicine vol. 385 , ( 20 ) 1868 - 1880 .

Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS et al. ( 2021 ) . Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study . The BMJ vol. 375 ,

Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K et al. ( 2021 ) . Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project . Journal of Medical Genetics vol. 59 , ( 8 ) 737 - 747 .

Wei Y, Papachristou N, Mueller S, Chang WH, Lai AG ( 2021 ) . Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project . BMC Research Notes vol. 14 , ( 1 )

Magavern EF, Kaski JC, Turner RM, Drexel H, Janmohamed A, Scourfield A, Burrage D, Floyd CN et al. ( 2021 ) . Challenges in cardiovascular pharmacogenomics implementation: a viewpoint from the European Society of Cardiology Working Group on Cardiovascular Pharmacotherapy . European Heart Journal - Cardiovascular Pharmacotherapy vol. 8 , ( 1 ) 100 - 103 .

Silvennoinen K, Puvirajasinghe C, Hudgell K, Sidhu MK, Custodio HM, Ambrose JC, Arumugam P, Baple EL et al. ( 2021 ) . Late diagnoses of Dravet syndrome: How many individuals are we missing? . Epilepsia Open vol. 6 , ( 4 ) 770 - 776 .

Stark Z, Foulger RE, Williams E, Thompson BA, Patel C, Lunke S, Snow C, Leong IUS et al. ( 2021 ) . Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution . American Journal of Human Genetics vol. 108 , ( 9 ) 1551 - 1557 .

Eales JM, Jiang X, Xu X, Saluja S, Akbarov A, Cano-Gamez E, McNulty MT, Finan C et al. ( 2021 ) . Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney . Nature Genetics vol. 53 , ( 5 ) 630 - 637 .

Warren H, Garofalidou T, Singh S, Melander O, Hiltunen T, Glorioso N, Cooper-Dehoff R, Dominiczak A et al. ( 2021 ) . GENOME-WIDE ASSOCIATION STUDY FOR PHARMACOGENETIC RESPONSE OF BLOOD PRESURE TO BETA BLOCKER AND CALCIUM CHANNEL BLOCKER DRUGS . Journal of Hypertension vol. 39 , ( Supplement 1 ) e258 - e259 .

Warren H, Traylor M, Garofalidou T, Ng FL, Gupta A, Sever P, Caulfield M, Munroe P ( 2021 ) . HYPERTENSIVE PATIENTS WITH GREATER GENETIC RISK RESPOND LESS EFFECTIVELY TO TREATMENT AND ARE MORE LIKELY TO BE TREATMENT RESISTANT . Journal of Hypertension vol. 39 , ( Supplement 1 )

Magavern EF, Kaski JC, Turner RM, Drexel H, Janmohamed A, Scourfield A, Burrage D, Floyd CN et al. ( 2021 ) . The role of pharmacogenomics in contemporary cardiovascular therapy: a position statement from the European Society of Cardiology Working Group on Cardiovascular Pharmacotherapy . European Heart Journal - Cardiovascular Pharmacotherapy vol. 8 , ( 1 ) 85 - 99 .

Ragoussis V, Pagnamenta AT, Haines RL, Giacopuzzi E, McClatchey MA, Sampson JR, Suri M, Gardham A et al. ( 2021 ) . Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation . Journal of Medical Genetics vol. 59 , ( 4 ) 366 - 369 .

Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M et al. ( 2021 ) . An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy . Brain

Magavern EF, Warren HR, Ng FL, Cabrera CP, Munroe PB, Caulfield MJ ( 2021 ) . An Academic Clinician’s Road Map to Hypertension Genomics . Hypertension vol. 77 , ( 2 ) 284 - 295 .

Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH ( 2020 ) . An online compendium of treatable genetic disorders . American Journal of Medical Genetics Part C Seminars in Medical Genetics vol. 187 , ( 1 ) 48 - 54 .

Boguslavskyi A, Tokar S, Prysyazhna O, Rudyk O, Sanchez-Tatay D, Lemmey HAL, Dora KA, Garland CJ et al. ( 2020 ) . Phospholemman Phosphorylation Regulates Vascular Tone, Blood Pressure, and Hypertension in Mice and Humans . Circulation vol. 143 , ( 11 ) 1123 - 1138 .

Pairo-Castineira E, Clohisey S, Klaric L, Bretherick AD, Rawlik K, Pasko D, Walker S, Parkinson N et al. ( 2020 ) . Genetic mechanisms of critical illness in COVID-19 . Nature vol. 591 , ( 7848 ) 92 - 98 .

Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T et al. ( 2020 ) . New variants and in silico analyses in GRK1 associated Oguchi disease . Human Mutation vol. 42 , ( 2 ) 164 - 176 .

Turner RM, Newman WG, Bramon E, McNamee CJ, Wong WL, Misbah S, Hill S, Caulfield M et al. ( 2020 ) . Pharmacogenomics in the UK National Health Service: opportunities and challenges . Pharmacogenomics vol. 21 , ( 17 ) 1237 - 1246 .

Parry DA, Martin CA, Greene P, Marsh JA, Ambrose JC, Arumugam P, Baple EL, Bleda M et al. ( 2020 ) . Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy . Genetics in Medicine

Gallo JE, Ochoa JE, Warren HR, Misas E, Correa MM, Gallo-Villegas JA, Bedoya G, Aristizábal D et al. ( 2020 ) . Hypertension and the roles of the 9p21.3 risk locus: Classic findings and new association data . International Journal of Cardiology Cardiovascular Risk and Prevention vol. 7 ,

Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA et al. ( 2020 ) . Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans . Nature Communications vol. 11 , ( 1 )

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A et al. ( 2020 ) . Whole-genome sequencing of patients with rare diseases in a national health system . Nature vol. 583 , ( 7814 ) 96 - 102 .

Raisi-Estabragh Z, McCracken C, Bethell MS, Cooper J, Cooper C, Caulfield MJ, Munroe PB, Harvey NC et al. ( 2020 ) . Greater risk of severe COVID-19 in Black, Asian and Minority Ethnic populations is not explained by cardiometabolic, socioeconomic or behavioural factors, or by 25(OH)-vitamin D status: study of 1326 cases from the UK Biobank . Journal of Public Health vol. 42 , ( 3 ) 451 - 460 .

Raisi-Estabragh Z, McCracken C, Bethell MS, Cooper J, Cooper C, Caulfield MJ, Munroe PB, Harvey NC et al. ( 2020 ) . Greater risk of severe COVID-19 in non-White ethnicities is not explained by cardiometabolic, socioeconomic, or behavioural factors, or by 25(OH)-vitamin D status: study of 1,326 cases from the UK Biobank .

Sackley CM, Rick C, Au P, Brady MC, Beaton G, Burton C, Caulfield M, Dickson S et al. ( 2020 ) . A multicentre, randomised controlled trial to compare the clinical and cost-effectiveness of Lee Silverman Voice Treatment versus standard NHS Speech and Language Therapy versus control in Parkinson’s disease: a study protocol for a randomised controlled trial . Trials vol. 21 , ( 1 )

Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M et al. ( 2020 ) . De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas . American Journal of Human Genetics vol. 106 , ( 6 ) 830 - 845 .

Ntalla I, Weng L-C, Cartwright JH, Hall AW, Sveinbjornsson G, Tucker NR, Choi SH, Chaffin MD et al. ( 2020 ) . Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction . Nature Communications vol. 11 , ( 1 )

Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA et al. ( 2020 ) . Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans . Nature Communications vol. 11 , ( 1 )

Freeman TM, Wang D, Harris J, Ambrose JC, Arumugam P, Baple EL, Bleda M, Boardman-Pretty F et al. ( 2020 ) . Genomic loci susceptible to systematic sequencing bias in clinical whole genomes . Genome Research vol. 30 , ( 3 ) 415 - 426 .

Pleguezuelos-Manzano C, Puschhof J, Rosendahl Huber A, van Hoeck A, Wood HM, Nomburg J, Gurjao C, Manders F et al. ( 2020 ) . Mutational signature in colorectal cancer caused by genotoxic pks+E. coli . Nature vol. 580 , ( 7802 ) 269 - 273 .

Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M et al. ( 2020 ) . The Deep Genome Project . Genome Biology vol. 21 , ( 1 )

Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H et al. ( 2020 ) . Human and mouse essentiality screens as a resource for disease gene discovery . Nature Communications vol. 11 , ( 1 )

Pu X, Chan K, Yang W, Xiao Q, Zhang L, Moore AD, Liu C, Webb TR et al. ( 2020 ) . Effect of a coronary-heart-disease-associated variant of ADAMTS7 on endothelial cell angiogenesis . Atherosclerosis vol. 296 , 11 - 17 .

Thomas ERA, Pasko D, Boustred C, Kasperaviciute D, Bleda M, Martin AR, Smedley D, McDonagh E et al. ( 2020 ) . Modelling diagnostic yield in the 100,000 Genomes Rare Disease Project using panel-based analysis and complementary approaches . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 639 - 640 .

Cabrera CP, Pazoki R, Giri A, Hellwege JN, Evangelou E, Ramirez J, Wain LV, Tzoulaki I et al. ( 2020 ) . Multi-trait genome-wide association analysis of blood pressure identifies 45 additional loci . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 105 - 105 .

Smedley D, Abbs S, Arno G, Baple E, Barnes M, Beales P, Bitner-Glindzicz M, Black G et al. ( 2020 ) . The impact of the 100,000 Genomes Project on rare disease in national healthcare . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 54 - 55 .

Kasperaviciute D, Smith KR, Ibanez K, Pasko D, Bleda M, Walker S, Polychronopoulos D, Martin AR et al. ( 2020 ) . Validation of Clinically Relevant Variant Detection from Whole Genome Sequencing for NHS England's Genomic Medicine Service . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 640 - 641 .

Caulfield M ( 2019 ) . 6 Translating genomics for clinical benefit . Postgraduate Medical Journal . vol. 95 , 686 - 686 .

Hong Y, Nanthapisal S, Omoyinmi E, Olbrich P, Neth O, Speckmann C, Lucena JM, Gilmour K et al. ( 2019 ) . Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2 . Frontiers in Immunology vol. 10 ,

Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR et al. ( 2019 ) . PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels . Nature Genetics vol. 51 , ( 11 ) 1560 - 1565 .

Smith KR, Bleda M, Kasperaviciute D, Ibanez K, Martin AR, Thomas E, Baple E, Tucci A et al. ( 2019 ) . Uniparental disomy in the Rare Disease Programme of the UK's 100,000 Genomes Project . EUROPEAN JOURNAL OF HUMAN GENETICS . Conference: European Society of Human Genetics vol. 27 , 1153 - 1154 .

Cabrera CP, Ng F, Nicholls HL, Gupta A, Barnes MR, Munroe PB, Caulfield MJ ( 2019 ) . Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated . Human Molecular Genetics vol. 28 , ( R2 ) R151 - R161 .

Wheway G, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR, Caulfield MJ et al. ( 2019 ) . Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project . Frontiers in Genetics vol. 10 ,

Scott RH, Fowler TA, Caulfield M ( 2019 ) . Genomic medicine: time for health-care transformation . The Lancet vol. 394 , ( 10197 ) 454 - 456 .

Noordam R, Young WJ, Salman R, Kanters JK, van den Berg ME, van Heemst D, Lin HJ, Barreto SM et al. ( 2019 ) . Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals . Journal of the American College of Cardiology vol. 73 , ( 24 ) 3118 - 3131 .

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP et al. ( 2019 ) . Germline selection shapes human mitochondrial DNA diversity . Science vol. 364 , ( 6442 )

Marques P, Tufton N, Bhattacharya S, Caulfield M, Akker SA ( 2019 ) . Hypertension due to a deoxycorticosterone-secreting adrenal tumour diagnosed during pregnancy . Endocrinology Diabetes and Metabolism Case Reports vol. 2019 , ( 1 ) 18 - 0164 .

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E et al. ( 2019 ) . Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia . American Journal of Human Genetics vol. 104 , ( 5 ) 948 - 956 .

Sung YJ, de las Fuentes L, Winkler TW, Chasman DI, Bentley AR, Kraja AT, Ntalla I, Warren HR et al. ( 2019 ) . A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure . Human Molecular Genetics vol. 28 , ( 15 ) 2615 - 2633 .

Marouli E, Del Greco MF, Astley CM, Yang J, Ahmad S, Berndt SI, Caulfield MJ, Evangelou E et al. ( 2019 ) . Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease . Communications Biology vol. 2 , ( 1 )

Wheway G, Consortium GER, Mitchison HM, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM et al. ( 2019 ) . Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project . Frontiers in Genetics vol. 10 ,

van Setten J, Verweij N, Mbarek H, Niemeijer MN, Trompet S, Arking DE, Brody JA, Gandin I et al. ( 2019 ) . Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits . European Journal of Human Genetics vol. 27 , ( 6 ) 952 - 962 .

McDonough CW, Warren HR, Jack JR, Motsinger-Reif AA, El Rouby NM, Gong Y, Mychaleckyj JC, Benavente OR et al. ( 2019 ) . DRUG-SNP INTERACTIONS AND CARDIOVASCULAR OUTCOMES: A GENOME-WIDE META-ANALYSIS IN THE INTERNATIONAL CONSORTIUM FOR ANTIHYPERTENSIVE PHARMACOGENOMICS STUDIES . CLINICAL PHARMACOLOGY & THERAPEUTICS . vol. 105 , S105 - S106 .

Giri A, Hellwege JN, Keaton JM, Park J, Qiu C, Warren HR, Torstenson ES, Kovesdy CP et al. ( 2018 ) . Trans-ethnic association study of blood pressure determinants in over 750,000 individuals . Nature Genetics vol. 51 , ( 1 ) 51 - 62 .

Brazel DM, Jiang Y, Hughey JM, Turcot V, Zhan X, Gong J, Batini C, Weissenkampen JD et al. ( 2018 ) . Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use . Biological Psychiatry

Evangelou E, Warren HR, Mosen-Ansorena D, Mifsud B, Pazoki R, Gao H, Ntritsos G, Dimou N et al. ( 2018 ) . Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits . Nat Genet vol. 50 , ( 12 ) 1755 - 1755 .

Collier DJ, Juhasz A, Agabiti‐Rosei E, Lloyd E, Hisada M, Zhao L, Kupfer S, Caulfield MJ ( 2018 ) . Efficacy and safety of azilsartan medoxomil/chlortalidone fixed‐dose combination in hypertensive patients uncontrolled on azilsartan medoxomil alone: A randomized trial . Journal of Clinical Hypertension vol. 20 , ( 10 ) 1473 - 1484 .

Allix-Béguec C, Arandjelovic I, Bi L, Beckert P, Bonnet M, Bradley P, Cabibbe AM, Cancino-Muñoz I et al. ( 2018 ) . Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing . New England Journal of Medicine vol. 379 , ( 15 ) 1403 - 1415 .

Evangelou E, Warren HR, Mosen-Ansorena D, Mifsud B, Pazoki R, Gao H, Ntritsos G, Dimou N et al. ( 2018 ) . Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits . Nature Genetics vol. 50 , ( 10 ) 1412 - 1425 .

Sosinsky A, Murugaesu N, Hamblin A, Ambrose J, Turnbull C, Henderson S, Rueda-Martin A, Fowler T et al. ( 2018 ) . 19P 100,000 Genomes Project: Cancer programme . Annals of Oncology . vol. 29 ,

Ng FL, Warren HR, Caulfield MJ ( 2018 ) . Hypertension genomics and cardiovascular prevention . Ann Transl Med vol. 6 , ( 15 ) 291 - 291 .

Sosinsky A, Antoniou P, Ambrose J, Mijuskovic M, Rueda-Martin A, Perez-Gil1 D, Serra E, Henderson S et al. ( 2018 ) . Abstract 434: 100,000 Genomes Project: Cancer program . Cancer Research . vol. 78 , 434 - 434 .

Williams B, MacDonald TM, Morant SV, Webb DJ, Sever P, McInnes GT, Ford I, Cruickshank JK et al. ( 2018 ) . Endocrine and haemodynamic changes in resistant hypertension, and blood pressure responses to spironolactone or amiloride: the PATHWAY-2 mechanisms substudies . Lancet Diabetes Endocrinol vol. 6 , ( 6 ) 464 - 475 .

Thomas ERA, Devereau A, Brittain H, Tucci A, Ryten M, Smedley D, Rendon A, Caulfield MJ et al. ( 2018 ) . Widespread uptake of the Human Phenotype Ontology (HPO) in the National Health Service (NHS) in England as part of the 100,000 Genomes Project . EUROPEAN JOURNAL OF HUMAN GENETICS . Conference: european society human genetics vol. 27 , 513 - 513 .

Munroe PB, Jahangir SNS, Caulfield MJ ( 2018 ) . Genetics and Genomics of Systemic Hypertension . Cardiovascular Genetics and Genomics , Springer Nature

Shovlin CL, Nur F, St Prix MS, Redhead J, Alton EA, Bernabeu-Herrero ME, Fowler T, Caulfield M et al. ( 2018 ) . Hereditary haemorrhagic telangiectasia and the 100,000 genomes project . ANGIOGENESIS . vol. 21 , 125 - 125 .

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Wilson S, Collier D, Johnston A, Poulter N, Feder G, Robson J, Caulfield M, Anglo-Scandinavian Cardiac Outcomes Trial ( 2001 ) . Evaluation of cardiovascular risk equations using the ASCOT cohort . J Hum Hypertens vol. 15 Suppl 1 , S31 - S33 .

White PC, Agarwal AK, Li AR, Nikkila H, Pratt JH, Caulfield M, Clark A, McTernan C et al. ( 2001 ) . Possible association but no linkage of the HSD11B2 gene encoding the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase to hypertension in Black people . CLIN ENDOCRINOL vol. 55 , ( 2 ) 249 - 252 .

Sever PS, Dahlof B, Poulter NR, Wedel H, Beevers G, Caulfield M, Collins R, Kjeldsen SE et al. ( 2001 ) . Rationale, design, methods and baseline demography of participants of the Anglo-Scandinavian cardiac outcomes trial . J HYPERTENS vol. 19 , ( 6 ) 1139 - 1147 .

Sever PS, Dahlöf B, Poulter NR, Wedel H, Beevers G, Caulfield M, Collins R, Kjeldsen SE et al. ( 2001 ) . Anglo-Scandinavian cardiac outcomes trial: A brief history, rationale and outline protocol . Journal of Human Hypertension vol. 15 , ( SUPPL. 1 )

Caulfield MJ ( 2001 ) . Genes for common diseases . BRIT J CLIN PHARMACO vol. 51 , ( 1 ) 1 - 3 .

Knight J, Gardner G, Clark A, Caulfield M ( 2000 ) . Investigation of chromosome 17q as a locus for human essential hypertension in African Caribbeans . Journal of Human Hypertension . vol. 14 , 385 - 387 .

Munroe PB, Caulfield MJ ( 2000 ) . Genetics of hypertension . Current Opinion in Genetics & Development vol. 10 , ( 3 ) 325 - 329 .

Munroe PB, Knight J, Caulfield MJ ( 2000 ) . 1990-2000: progress in determining high blood pressure genes . Annals, Academy of Medicine, Singapore vol. 29 , ( 3 ) 357 - 363 .

Caulfield M, Papp J, Pembroke J, Munroe P, Farrall M, Dominiczak A, Clayton D, Ratcliffe P et al. ( 2000 ) . A new tool for checks of data precision within the MRC British genetics of hypertension study . J HYPERTENS . vol. 18 , S180 - S180 .

Munroe P, Sandhu M, Jadhav D, Knight J, Clark A, Caulfield M ( 2000 ) . No association of the epithelial sodium channel beta-subunit T594M variant with essential hypertension in an African Caribbean population . J HYPERTENS vol. 18 , S178 - S178 .

Munroe PB, Strautnieks SS, Farrall M, Daniel HI, Lawson M, DeFreitas P, Fogarty P, Gardiner RM et al. ( 1998 ) . Absence of Linkage of the Epithelial Sodium Channel to Hypertension in Black Caribbeans* . American Journal of Hypertension vol. 11 , ( 8 ) 942 - 945 .

Caulfield M, Cafferkey M ( 1998 ) . Gene therapy: The possibilities and the problems . International Journal of Pharmaceutical Medicine vol. 12 , ( 1 ) 5 - 7 .

Brand E, Chatelain N, Keavney B, Caulfield M, Citterio L, Connell J, Grobbee D, Schmidt S et al. ( 1998 ) . Evaluation of the Angiotensinogen Locus in Human Essential Hypertension . Hypertension vol. 31 , ( 3 ) 725 - 729 .

Brand E, Chatelain N, de Bruijn T, Caulfield M, Connell J, Keavney B, Schunkert H, Schuster H et al. ( 1997 ) . 1.P.377 Evaluation of the angiotensinogen locus in human essential hypertension: An European study . Atherosclerosis vol. 134 , ( 1-2 )

Kotanko P, Binder A, Tasker J, DeFreitas P, Kamdar S, Clark AJL, Skrabal F, Caulfield M ( 1997 ) . Essential hypertension in African Caribbeans associates with a variant of the beta2-adrenoceptor . Hypertension vol. 30 , ( 4 ) 773 - 776 .

Munroe PB, Strautnieks SS, Farrall M, Daniel HI, Kamdar S, Lawson M, DeFreitas P, Fogarty P et al. ( 1997 ) . Investigation of the epithelial sodium channel (hENaC) as a candidate gene for essential hypertension (EH) in African Caribbeans . American Journal of Hypertension vol. 10 , ( S2 ) 5a - 5a .

Daniel H, Munroe P, Kamdar S, Lawson M, Lavender P, Forgaty P, Caulfield M ( 1997 ) . The atrial natriuretic peptide gene and essential hypertension in African-Caribbeans from St Vincent and the Grenadines . Journal of Human Hypertension vol. 11 , ( 2 ) 113 - 117 .

Caulfield M, Lavender P, Newell-Price J, Kamdar S, Farrall M, Clark AJL ( 1996 ) . Angiotensinogen in human essential hypertension . Hypertension . vol. 28 , 1123 - 1125 .

Caulfield M, Newell-Price J ( 1995 ) . The angiotensin converting enzyme gene in cardiovascular disease . Heart vol. 74 , ( 3 )

Munroe PB, Daniel HI, Farrall M, Lawson M, Bouloux PM, Caulfield MJ ( 1995 ) . Absence of genetic linkage between polymorphisms of the insulin receptor gene and essential hypertension . Journal of Human Hypertension . vol. 9 , 669 - 670 .

Caulfield M, Lavender P, Newell-Price J, Farrall M, Kamdar S, Daniel H, Lawson M, De Freitas P et al. ( 1995 ) . Linkage of the angiotensinogen gene locus to human essential hypertension in African Caribbeans . Journal of Clinical Investigation vol. 96 , ( 2 ) 687 - 692 .

Mattu R, Needham E, Galton D, Frangos E, Elwood P, Clark A, Caulfield M ( 1995 ) . The Ace I/D Polymorphism Identifies Cad in Low Risk Welsh Subjects . Clinical Science vol. 88 , ( s32 ) 1p - 1p .

Mattu RK, Needham EWA, Galton DJ, Frangos E, Clark AJL, Caulfield M ( 1995 ) . A DNA variant at the angiotensin-converting enzyme gene locus associates with coronary artery disease in the Caerphilly Heart Study . Circulation vol. 91 , ( 2 ) 270 - 274 .

Caulfield M, Lavender P, Newell-Price J, Farrall M, Daniel H, Kamdar S, Lawson M, Fogarty P et al. ( 1994 ) . 2 Linkage of the angiotensinogen gene to human essential hypertension in African Caribbeans . Journal of Hypertension vol. 12 , ( 11 )

Brown MJ, Clayton D ( 1994 ) . Linkage of the Angiotensinogen Gene to Essential Hypertension . New England Journal of Medicine vol. 331 , ( 16 ) 1096 - 1097 .

Mattu RK, Needham EWA, Caulfield M, Frangos E, Elwood PC, Clark A, Galton DJ ( 1994 ) . Association of the ACE I/D polymorphism with CAD in a Welsh population . Atherosclerosis vol. 109 , ( 1-2 )

Kamdar S, Daniel H, Fogarty P, Lawson M, Munroe P, Caulfield M ( 1994 ) . ACE insertion/deletion (I/D) polymorphism in Vincentian African Caribbeans with essential hypertension . Journal of Human Hypertension . vol. 8 ,

Munroe PB, Johnston A, Duke VM, Daniel HI, Bouloux PM, Lawson M, Caulfield MJ ( 1994 ) . Investigation of lipoprotein lipase (LPL) as a candidate gene for dyslipidaemic hypertension . Journal of Human Hypertension . vol. 8 , 613 - 614 .

Daniel HI, Munroe PB, Lawson M, Fogarty P, Kamdar SM, Caulfield MJ ( 1994 ) . Investigation of the renin gene as a putative locus for essential hypertension (EH) in Vincentian African Caribbeans . Journal of Human Hypertension . vol. 8 , 609 - 610 .

Caulfield M, Lavender P, Farrall M, Munroe P, Lawson M, Turner P, Clark A ( 1994 ) . Linkage of the Angiotensinogen Gene to Essential Hypertension . New England Journal of Medicine vol. 330 , ( 23 ) 1629 - 1633 .

Munroe PB, Caulfield M, Daniel H, Lawson M, Bouloux PMG, Turner P ( 1993 ) . Analysis of the insulin receptor RsaI polymorphism in essential hypertension . British Journal of Clinical Pharmacology . vol. 35 ,

Raveendran R, Heybroek W, Caulfield M, Lawson M, Abrams SML, Wrigley PFM, Slevin M, Turner P ( 1992 ) . Indomethacin and Protein Binding of Methotrexate . Human & Experimental Toxicology vol. 11 , ( 4 ) 291 - 293 .

Raveendran R, Heybroek WM, Caulfield M, Abrams SM, Wrigley PF, Slevin M, Turner P ( 1992 ) . Protein binding of indomethacin, methotrexate and morphine in patients with cancer . Clinical pharmacology research vol. 12 , ( 3 ) 117 - 122 .

Saleh S, Caulfield M, Lledo P, Johnston A, Turner P ( 1990 ) . Debrisoquine-type genetic polymorphism differences in medifoxamine pharmacokinetics . European Journal of Pharmacology . vol. 183 ,

Caulfield MJ, Dilkes MG, Iles RK, Handel BT, Oliver RTD ( 1990 ) . Rapid diagnosis of testicular choriocarcinoma by urinary pregnancy tests . The Lancet vol. 335 , ( 8699 )

Heybroek WM, Caulfield M, Johnston A, Turner P ( 1990 ) . Automatic on-line extraction coupled with electrochemical detection as an improved method for the HPLC co-analysis of codeine and morphine in plasma and gastric juice . Journal of Pharmaceutical and Biomedical Analysis vol. 8 , ( 8-12 ) 1021 - 1027 .

CAULFIELD MJ, DILKES MG, ILES RK, HANDEL BT, OLIVER RTD ( 1990 ) . RAPID DIAGNOSIS OF TESTICULAR CHORIOCARCINOMA BY URINARY PREGNANCY TESTS . LANCET vol. 335 , ( 8699 ) 1229 - 1229 .

Bouloux P-MG, Caulfield M, Lawson M, Turner P, Galton DJ ( 1989 ) . A study of Xho 1 polymorphisms of the human proatrial natriuretic peptide gene in essential hypertension . Journal of Hypertension vol. 7 , ( 11 ) 919 - 920 .

Blandy JP, Jenkins BJ, Fowler CG, Caulfield M, Badenoch DF, England HR, Hope-Stone HF, Mair GM et al. ( 1988 ) . Radical radiotherapy and salvage cystectomy for T2/3 cancer of the bladder . Progress in Clinical and Biological Research vol. 260 , 447 - 451 .