Publications: Prosir Mark Caulfield

Leong IUS, Cabrera CP, Cipriani V, Ross PJ, Turner RM, Stuckey A, Sanghvi S, Pasko D et al. ( 2024 ) . Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice . Journal of Clinical Oncology

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

Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A et al. ( 2024 ) . Increased frequency of repeat expansion mutations across different populations . Nature Medicine1 - 12 .

Thompson DJ, Wells D, Selzam S, Peneva I, Moore R, Sharp K, Tarran WA, Beard EJ et al. ( 2024 ) . A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release . PLOS ONE vol. 19 , ( 9 )

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 .

Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E et al. ( 2024 ) . Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits . Nature Genetics vol. 56 , ( 5 ) 778 - 791 .

Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG et al. ( 2024 ) . Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability . Journal of Medical Genetics vol. 61 , ( 7 ) 689 - 698 .

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 .

Collier DJ, Taylor M, Godec T, Shiel J, James R, Chowdury Y, Ebano P, Monk V et al. ( 2024 ) . Personalized Antihypertensive Treatment Optimization With Smartphone‐Enabled Remote Precision Dosing of Amlodipine During the COVID‐19 Pandemic (PERSONAL‐CovidBP Trial) . Journal of the American Heart Association vol. 13 , ( 4 )

Seaby EG, Leggatt G, Cheng G, Thomas NS, Ashton JJ, Stafford I, Baralle D, Rehm HL et al. ( 2024 ) . A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project . Genetics in Medicine vol. 26 , ( 4 )

Sosinsky A, Ambrose J, Cross W, Turnbull C, Henderson S, Jones L, Hamblin A, Arumugam P et al. ( 2024 ) . Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme . Nature Medicine vol. 30 , ( 1 ) 279 - 289 .

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 .

Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier J-M, Ji W, Ionita C et al. ( 2023 ) . Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections . Genetics in Medicine vol. 26 , ( 2 )

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 .

Kovilakam SC, Gu M, Dunn WG, Marando L, Barcena C, Consortium GER, Ambrose JC, Arumugam P et al. ( 2023 ) . Prevalence and significance of DDX41 gene variants in the general population . Blood vol. 142 , ( 14 ) 1185 - 1192 .

Lagou V, Jiang L, Ulrich A, Zudina L, González KSG, Balkhiyarova Z, Faggian A, Maina JG et al. ( 2023 ) . GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification . Nature Genetics vol. 55 , ( 9 ) 1448 - 1461 .

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 .

Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M et al. ( 2023 ) . HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder . American Journal of Human Genetics vol. 110 , ( 8 ) 1414 - 1435 .

Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D et al. ( 2023 ) . Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis . Brain vol. 146 , ( 12 ) 5060 - 5069 .

Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S et al. ( 2023 ) . Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration . American Journal of Human Genetics vol. 110 , ( 8 ) 1356 - 1376 .

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 .

Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I et al. ( 2023 ) . Author Correction: The power of genetic diversity in genome-wide association studies of lipids . Nature vol. 618 , ( 7965 ) e19 - e20 .

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 .

Choi D-J, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM et al. ( 2023 ) . The genomic landscape of familial glioma . Science Advances vol. 9 , ( 17 )

Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R, Ambrose JC, Arumugam P et al. ( 2023 ) . Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition . Brain vol. 146 , ( 9 ) 3885 - 3897 .

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 .

Jackson A, Lin S-J, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G et al. ( 2023 ) . Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 . Human Genetics and Genomics Advances vol. 4 , ( 2 )

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 .

Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF et al. ( 2022 ) . Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis . Genome Biology vol. 23 , ( 1 )

Robbe P, Ridout KE, Vavoulis DV, Dréau H, Kinnersley B, Denny N, Chubb D, Appleby N et al. ( 2022 ) . Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features . Nature Genetics vol. 54 , ( 11 ) 1675 - 1689 .

Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Muñoz-Fuentes V, Hsu C-W, Van den Veyver IB et al. ( 2022 ) . Mendelian gene identification through mouse embryo viability screening . Genome Medicine vol. 14 , ( 1 )

Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU et al. ( 2022 ) . A saturated map of common genetic variants associated with human height . Nature vol. 610 , ( 7933 ) 704 - 712 .

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 .

Moreno-Ruiz N, Lao O, Aróstegui JI, Laayouni H, Casals F ( 2022 ) . Assessing the digenic model in rare disorders using population sequencing data . European Journal of Human Genetics vol. 30 , ( 12 ) 1439 - 1443 .

Chan MM, Sadeghi-Alavijeh O, Lopes FM, Hilger AC, Stanescu HC, Voinescu CD, Beaman GM, Newman WG et al. ( 2022 ) . Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves . eLife vol. 11 ,

Nguyen H, Solomonson M, Palotie A, Davis L, Lee S, Priest J, Sankaran VG, van Heel D et al. ( 2022 ) . A first update on mapping the human genetic architecture of COVID-19 . Nature vol. 608 , ( 7921 ) e1 - e10 .

Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL et al. ( 2022 ) . A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids . American Journal of Human Genetics vol. 109 , ( 8 ) 1366 - 1387 .

Joyce KE, Onabanjo E, Brownlow S, Nur F, Olupona K, Fakayode K, Sroya M, Thomas GA et al. ( 2022 ) . Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation . Blood Advances vol. 6 , ( 13 ) 3956 - 3969 .

Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS, Camps C, Taylor J, Carroll M et al. ( 2022 ) . Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis . European Respiratory Journal vol. 60 , ( 5 )

Trotman J, Armstrong R, Firth H, Trayers C, Watkins J, Allinson K, Jacques TS, Nicholson JC et al. ( 2022 ) . The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer . British Journal of Cancer vol. 127 , ( 1 ) 137 - 144 .

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 )

Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J et al. ( 2022 ) . SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile . Genetics in Medicine vol. 24 , ( 6 ) 1261 - 1273 .

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 )

Baillie JK, Begg C, Clohisey Hendry S, Hinds C, Horby P, Knight J, Ling L, Maslove D et al. ( 2022 ) . Whole-genome sequencing reveals host factors underlying critical COVID-19 . Nature vol. 607 , ( 7917 ) 97 - 103 .

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 .

Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I et al. ( 2021 ) . The power of genetic diversity in genome-wide association studies of lipids . Nature vol. 600 , ( 7890 ) 675 - 679 .

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 .

Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M et al. ( 2021 ) . Variable skeletal phenotypes associated with biallelic variants in PRKG2 . Journal of Medical Genetics vol. 59 , ( 10 ) 947 - 950 .

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 .

Niemi MEK, Karjalainen J, Liao RG, Neale BM, Daly M, Ganna A, Davis L, Lee S et al. ( 2021 ) . Mapping the human genetic architecture of COVID-19 . Nature vol. 600 , ( 7889 ) 472 - 477 .

Kosmicki JA, Horowitz JE, Banerjee N, Lanche R, Marcketta A, Maxwell E, Bai X, Sun D et al. ( 2021 ) . Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals . American Journal of Human Genetics vol. 108 , ( 7 ) 1350 - 1355 .

Chen J, Spracklen CN, Marenne G, Varshney A, Corbin LJ, Luan J, Willems SM, Wu Y et al. ( 2021 ) . The trans-ancestral genomic architecture of glycemic traits . Nature Genetics vol. 53 , ( 6 ) 840 - 860 .

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 .

Zenner D ( 2021 ) . The Barts Health NHS Trust COVID-19 cohort: characteristics, outcomes and risk scoring of patients in East London . International Journal of Tuberculosis and Lung Disease

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 .

Jones CL, Degasperi A, Grandi V, Amarante TD, Mitchell TJ, Nik-Zainal S, Whittaker SJ ( 2021 ) . Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma . Scientific Reports vol. 11 , ( 1 )

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 .

Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen L, Mifsud B et al. ( 2020 ) . Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals . Nature Genetics vol. 52 , ( 12 ) 1314 - 1332 .

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 ,

Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S et al. ( 2020 ) . Neuronal intranuclear inclusion disease is genetically heterogeneous . Annals of Clinical and Translational Neurology Article acn3.51151 ,

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 )

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Padmanabhan S, Wallace C, McBride MW, Munroe PB, Dobson R, Brown M, Samani NJ, Clayton D et al. ( 2006 ) . Genomewide linkage analysis for loci affecting electrocardiographic LV mass . JOURNAL OF HYPERTENSION . vol. 24 , S330 - S330 .

Delles C, Marcano ACB, Munroe PB, Padmanabhan S, McClure JD, Brain NJ, Brown MJ, Samani NJ et al. ( 2006 ) . Variants of the human mu type glutathione-s-transferase (GSTM) gene family are associated with hypertension . JOURNAL OF HYPERTENSION . vol. 24 , S13 - S13 .

Dobson RJ, Munroe PB, Caulfield MJ, Saqi MA ( 2006 ) . Predicting deleterious nsSNPs: an analysis of sequence and structural attributes . BMC Bioinformatics vol. 7 ,

Bell JT, Wallace C, Dobson R, Wiltshire S, Mein C, Pembroke J, Brown M, Clayton D et al. ( 2006 ) . Two-dimensional genome-scan identifies novel epistatic loci for essential hypertension . HUM MOL GENET vol. 15 , ( 8 ) 1365 - 1374 .

Padmanabhan S, Wallace C, Munroe PB, Dobson R, Brown M, Samani N, Clayton D, Farrall M et al. ( 2006 ) . Chromosome 2p shows significant linkage to antihypertensive response in the British Genetics of Hypertension Study . Hypertension . vol. 47 , 603 - 608 .

Padmanabhan S, Wallace C, Munroe PB, Dobson R, Brown M, Samani N, Clayton D, Farrall M et al. ( 2006 ) . Chromosome 2p shows significant linkage to antihypertensive response in the British genetics of hypertension study . HYPERTENSION . vol. 47 , 603 - 608 .

Binder A, Garcia E, Wallace C, Kazeem G, Ben-Shlomo Y, Yarnell J, Brown P, Caulfield M et al. ( 2006 ) . Haplotypes of the beta-2 adrenergic receptor associate with high diastolic blood pressure in the Caerphilly prospective study . J HYPERTENS vol. 24 , ( 3 ) 471 - 477 .

Tobin MD, Raleigh SM, Newhouse S, Braund P, Bodycote C, Ogleby J, Cross D, Gracey J et al. ( 2005 ) . Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population . CIRCULATION vol. 112 , ( 22 ) 3423 - 3429 .

Padmanabhan S, Wallace C, Munroe PB, Brown M, Samani N, Clayton D, Farrall M, Webster J et al. ( 2005 ) . Chromosome 2p shows genome wide significant linkage to of anti-hypertensive medication response in the British genetics of hypertension (BRIGHT) study . HYPERTENSION . vol. 46 , 886 - 886 .

Wallace C, Xue MZ, Dobson R, Marcano C, Gungadoo J, Burke B, Onipinla A, Newhouse S et al. ( 2005 ) . Loci on chromosomes 5p and 20q are linked to multiple hypertension phenotypes in the BRItish genetics of Hypertension (BRIGHT) study . HYPERTENSION . vol. 46 , 877 - 877 .

Padmanabhan S, Munroe PB, Brown M, Clayton D, Farrall M, Webster J, Lathrop M, Caulfield M et al. ( 2005 ) . Chromosome 2p shows genome wide significant linkage to anti-hypertensive medication response in the British genetics hypertension (BRIGHT) study . HYPERTENSION . vol. 46 , 886 - 886 .

Munroe PB, Wallace C, Mein C, Dobson R, Xue M, Marcano C, Burke B, Gungadoo J et al. ( 2005 ) . Enhanced support for linkage to chromosome 5q13.1 and hypertension in the British Genetics of Hypertension (BRIGHT) study . HYPERTENSION . vol. 46 , 892 - 892 .

Wallace C, Xue MZ, Dobson R, Marcano C, Gungadoo J, Burke B, Onipinla A, Newhouse S et al. ( 2005 ) . Loci on chromosomes 5p and 20q are linked to multiple hypertension phenotypes in the BRItish Genetics of HyperTension (BRIGHT) study . HYPERTENSION . vol. 46 , 877 - 877 .

Xue MZ, Wallace C, Dobson R, Garcia E, Kazeem G, Gardener G, Needham E, Mattu R et al. ( 2005 ) . Variants and haplotypes of the angiotensinogen gene are associated with hypertension in the Caerphilly Prospective Study . HYPERTENSION . vol. 46 , 904 - 904 .

Dahlof B, Sever PS, Poulter NR, Wedel H, Beevers DG, Caulfield M, Collins R, Kjeldsen SE et al. ( 2005 ) . Prevention of cardiovascular events with an antihypertensive regimen of amlodipine adding perindopril as required versus atenolol adding bendroflumethiazide as required, in the Anglo-Scandinavian Cardiac Outcomes Trial-Blood Pressure Lowering Arm (ASCOT-BPLA): a multicentre randomised controlled trial . LANCET vol. 366 , ( 9489 ) 895 - 906 .

Poulter NR, Wedel H, Dahlof B, Sever PS, Beevers DG, Caulfield M, Kjeldsen SE, Kristinsson A et al. ( 2005 ) . Role of blood pressure and other variables in the differential cardiovascular event rates noted in the Anglo-Scandinavian Cardiac Outcomes Trial-Blood Pressure Lowering Arm (ASCOT-BPLA) . LANCET vol. 366 , ( 9489 ) 907 - 913 .

( 2005 ) . Epidemiology of Hypertension . Hypertension , Taylor & Francis

Newhouse SJ, Wallace C, Dobson R, Mein C, Pembroke J, Farrall M, Clayton D, Brown M et al. ( 2005 ) . Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study . Hum Mol Genet vol. 14 , ( 13 ) 1805 - 1814 .

Marcano ACB, Onipinla AK, Caulfield MJ, Munroe PB ( 2005 ) . Recent advances in the identification of genes for human hypertension . Expert Rev Cardiovasc Ther vol. 3 , ( 4 ) 733 - 741 .

Consortium G ( 2005 ) . Disentangling Fetal and Maternal Susceptibility for Pre-Eclampsia: A British Multicenter Candidate-Gene Study . American Journal of Human Genetics vol. 77 , ( 1 ) 127 - 131 .

Sever PS, Poulter NR, Dahlof B, Wedel H, Collins R, Beevers G, Caulfield M, Kjeldsen SE et al. ( 2005 ) . Reduction in cardiovascular events with atorvastatin in 2,532 patients with type 2 diabetes: Anglo-Scandinavian Cardiac Outcomes Trial-Lipid-Lowering Arm (ASCOT-LLA) . DIABETES CARE vol. 28 , ( 5 ) 1151 - 1157 .

Mein CA, Caulfield MJ, Munroe PB ( 2005 ) . Selection of candidate genes in hypertension . vol. 108 ,

Munroe PB, Dobson R, Pembroke J, Wilson S, Pheby J, Colville-Stewart S, Gilmour K, Macdade M et al. ( 2004 ) . The MRC BRIGHT study: Demographic and biochemical characteristics of the sibling-pair resource . BRITISH JOURNAL OF CLINICAL PHARMACOLOGY . vol. 58 , 688 - 688 .

Lee YW, Oh VMS, Garcia E, Taylor EA, Wu HM, Yap EPH, Kazeem GR, Caulfield MJ et al. ( 2004 ) . Haplotypes of the beta 2-adrenegic receptor gene are associated with essential hypertension in a Singaporean Chinese population . J HYPERTENS vol. 22 , ( 11 ) 2111 - 2116 .

Newhouse S, Dobson R, Wallace C, Pembroke J, Garcia E, Mein C, Clayton D, Samani N et al. ( 2004 ) . No association of the WNK1 gene with essential hypertension in the MRC BRIGHT study . JOURNAL OF HYPERTENSION . vol. 22 , S212 - S212 .

Mein CA, Caulfield MJ, Dobson RJ, Munroe PB ( 2004 ) . Genetics of essential hypertension . Human Molecular Genetics vol. 13 , ( REV. ISS. 1 )

Mein CA, Caulfield MJ, Dobson RJ, Munroe PB ( 2004 ) . Genetics of essential hypertension . Hum Mol Genet vol. 13 Spec No 1 , R169 - R175 .

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Caulfield M, Munroe P, Pembroke J, Study. FTMBGOH ( 2003 ) . Genome-wide mapping of human loci for essential hypertension . ACC Current Journal Review vol. 12 , ( 5 ) 32 - 33 .

Newhouse SJ, Garcia E, Caulfield M, Munroe P ( 2003 ) . Haplotype structure of the WNK1 gene and association studies in hypertensive populations . BRITISH JOURNAL OF CLINICAL PHARMACOLOGY . vol. 56 , 245 - 245 .

Kübler W ( 2003 ) . Prevention of coronary and stroke events with atorvastatin in hypertensive patients who have average or lower-than-average cholesteroal concentrations, in the Anglo-Scandinavian Cardiac Outcomes Trial—Lipid Lowering Arm (ASCOL-LLA): a multicentre randomised controlled trial . Clinical Research in Cardiology vol. 92 , ( 7 ) 613 - 613 .

Wilson S, Johnston A, Robson J, Poulter N, Collier D, Feder G, Caulfield MJ ( 2003 ) . Comparison of methods to identify individuals at increased risk of coronary disease from the general population . BMJ vol. 326 , ( 7404 )

Caulfield M, Munroe P, Pembroke J, Samani N, Dominiczak A, Brown M, Benjamin N, Webster J et al. ( 2003 ) . Genome-wide mapping of human loci for essential hypertension . Lancet vol. 361 , ( 9375 ) 2118 - 2123 .

Sever PS, Dahlof B, Poulter NR, Wedel H, Beevers G, Caulfield M, Collins R, Kjeldsen SE et al. ( 2003 ) . Prevention of coronary and stroke events with atorvastatin in hypertensive patients who have average or lower-than-average cholesterol concentrations, in the Anglo-Scandinavian Cardiac Outcomes Trial-Lipid Lowering Arm (ASCOT-LLA): a multicentre randomised controlled trial . LANCET vol. 361 , ( 9364 ) 1149 - 1158 .

Wilson S, Johnston A, Collier DJ, Caulfield M ( 2003 ) . Feasibility of enrolling patients to hypertension outcome trials based on an assessment of their cardiovascular risk . BRITISH JOURNAL OF CLINICAL PHARMACOLOGY . vol. 55 , 425 - 426 .

Wilson S, Johnston A, Robson J, Poulter NR, Collier DJ, Feder GS, Caulfield MJ ( 2003 ) . Predicting coronary risk in the general population--is it necessary to measure high-density lipoprotein cholesterol? . J Cardiovasc Risk vol. 10 , ( 2 ) 137 - 141 .

Knight J, Munroe PB, Pembroke JC, Caulfield MJ ( 2003 ) . Human chromosome 17 in essential hypertension . Ann Hum Genet vol. 67 , ( Pt 2 ) 193 - 206 .

Garcia EA, Newhouse S, Caulfield MJ, Munroe PB ( 2003 ) . Genes and hypertension . Curr Pharm Des vol. 9 , ( 21 ) 1679 - 1689 .

Garcia EA, Aristizabal D, McEwen J, Mendez J, Munroe P, Caulfield M ( 2002 ) . Guanine nucleotide binding 3 (GNB3) haplotype analysis in the Venecia-Colombia Latin-American blood pressure study . AMERICAN JOURNAL OF HUMAN GENETICS . vol. 71 , 366 - 366 .

Wilson S, Johnston A, Robson J, Poulter N, Collier D, Feder G, Caulfield M ( 2002 ) . Should we measure high density lipoprotein cholesterol in people with hypertension? . JOURNAL OF HYPERTENSION . vol. 20 , S150 - S150 .

Caulfield M, Pembroke J, Dominiczak A, Samani N, Brown M, Clayton D, Ratcliffe P, Lathrop M et al. ( 2002 ) . The MRC British Genetics of Hypertension Study - Genome-wide screen results . JOURNAL OF HYPERTENSION . vol. 20 , S7 - S7 .

Wilson S, Johnston A, Robson J, Poulter N, Collier D, Feder G, Caulfield M ( 2002 ) . OR-4: Who should have their cholesterol measured? A comparison of selective cholesterol screening methods . American Journal of Hypertension vol. 15 , ( S3 ) 2a - 2a .

Collier DJ, Martin TA, Angell-James JE, Bernardi L, Sleight P, Caulfield MJ ( 2002 ) . P-334: Gender differences in carotid sinus baroreceptor reflexes in healthy young normal subjects and in ASCOT patients with treated essential hypertension . American Journal of Hypertension vol. 15 , ( S3 ) 151a - 151a .

Chapman JN, Kirby P, Caulfield MC, Poulter NR ( 2001 ) . Cardiovascular risk factors in a cohort of 30 000 high-risk men and women in the UK: Cross-sectional, retrospective and prospective studies of screenees for the Anglo-Scandinavian Cardiac Outcomes Trial (ASCOT) . Journal of Human Hypertension vol. 15 , ( SUPPL. 1 )

Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ ( 2001 ) . Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity . Am J Hum Genet vol. 69 , ( 3 ) 641 - 646 .

O'Brien E, McInnes GT, Stanton A, Thom S, Caulfield M, Atkins N, Nichol FM ( 2001 ) . Ambulatory blood pressure monitoring and 24-h blood pressure control as predictors of outcome in treated hypertensive patients . J HUM HYPERTENS vol. 15 , S47 - S51 .

Sever PS, Dahlof 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 . J HUM HYPERTENS vol. 15 , S11 - S12 .

Collier DJ, Bernardi L, Angell-James JE, Caulfield MJ, Sleight P, Anglo-Scandinavian Cardiac Outcomes Trial ( 2001 ) . Baroreflex sensitivity and heart rate variability as predictors of cardiovascular outcome in hypertensive patients with multiple risk factors for coronary disease . J Hum Hypertens vol. 15 Suppl 1 , S57 - S60 .

Chapman JN, Kirby P, Caulfield MC, Poulter NR ( 2001 ) . Cardiovascular risk factors in a cohort of 30,000 high-risk men and women in the UK: cross-sectional, retrospective and prospective studies of screenees for the Anglo-Scandinavian Cardiac Outcomes Trial (ASCOT) . J HUM HYPERTENS vol. 15 , S23 - S26 .

Kirby PL, Caulfield MC, Collier DJ, Eldridge S, Griffiths CG, Hemingway H, Poulter NR, Feder GS et al. ( 2001 ) . Differential response to amlodipine and atenolol mono-therapy for hypertension by ethnic group . J Hum Hypertens vol. 15 Suppl 1 , S61 - S64 .

Poulter NR, Caulfield M, Feder G ( 2001 ) . Ethnic variations in response to a statin (EVIREST) . J HUM HYPERTENS vol. 15 , S87 - S89 .

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 .