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Research

Publications: Prosir Mark Caulfield

Jurkute N, Cancellieri F, Pohl L, Li CHZ, Heaton RA, Reurink J, Bellingham J, Quinodoz M et al. ( 2022 ) . Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype . npj Genomic Medicine vol. 7 , ( 1 )
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H et al. ( 2022 ) . GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements . Nature Communications vol. 13 , ( 1 )
Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Muñoz-Fuentes V, Hsu CW, Van den Veyver IB et al. ( 2022 ) . Mendelian gene identification through mouse embryo viability screening . Genome Medicine vol. 14 , ( 1 )
Gibson JT, Sadeghi-Alavijeh O, Gale DP, Rothe H, Gale DP, Savige J, Ambrose JC, Arumugam P et al. ( 2022 ) . Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome . Scientific Reports vol. 12 , ( 1 )
Macken WL, Falabella M, McKittrick C, Pizzamiglio C, Ellmers R, Eggleton K, Woodward CE, Patel Y et al. ( 2022 ) . Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing . Nature Communications vol. 13 , ( 1 )
Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S et al. ( 2022 ) . The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision . Nature Communications vol. 13 , ( 1 )
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 )
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 .
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 .
Mackenzie IS, Hawkey CJ, Ford I, Greenlaw N, Pigazzani F, Rogers A, Struthers AD, Begg AG et al. ( 2022 ) . Allopurinol versus usual care in UK patients with ischaemic heart disease (ALL-HEART): a multicentre, prospective, randomised, open-label, blinded-endpoint trial . The Lancet vol. 400 , ( 10359 ) 1195 - 1205 .
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A et al. ( 2022 ) . Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy . Genetics in Medicine vol. 24 , ( 10 ) 2079 - 2090 .
Chan MMY, 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 ,
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 .
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T et al. ( 2022 ) . Whole-genome sequencing reveals host factors underlying critical COVID-19 . Nature vol. 607 , ( 7917 ) 97 - 103 .
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 .
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 .
Reijns MAM, Parry DA, Williams TC, Nadeu F, Hindshaw RL, Rios Szwed DO, Nicholson MD, Carroll P et al. ( 2022 ) . Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline (Nature, (2022), 602, 7898, (623-631), 10.1038/s41586-022-04403-y) . Nature vol. 605 , ( 7910 )
Owen N, Toms M, Young RM, Eintracht J, Sarkar H, Brooks BP, Moosajee M, Ambrose JC 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 .
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 .
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 )
Ragoussis V, Pagnamenta AT, Haines RL, Giacopuzzi E, McClatchey MA, Sampson JR, Suri M, Gardham A et al. ( 2022 ) . Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation . J Med Genet vol. 59 , ( 4 ) 366 - 369 .
Warren H, Edwards T, Vaez A, Keaton J, Kamali Z, Xie T, Ani A, Evangelou E et al. ( 2022 ) . Genome-wide analysis in over 1 million individuals reveals over 2,000 independent genetic signals for blood pressure .
Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M et al. ( 2022 ) . 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 .
McGuigan A, Whitworth J, Andreou A, Hearn T, Ambrose JC, Arumugam P, Bevers R, Bleda M et al. ( 2022 ) . Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update . European Journal of Human Genetics vol. 30 , ( 3 ) 265 - 270 .
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 .
Reijns MAM, Parry DA, Williams TC, Nadeu F, Hindshaw RL, Rios Szwed DO, Nicholson MD, Carroll P et al. ( 2022 ) . Signatures of TOP1 transcription-associated mutagenesis in cancer and germline . Nature vol. 602 , ( 7898 ) 623 - 631 .
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 )
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen A et al. ( 2022 ) . A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries .
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 ,
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
Moreno-Ruiz N, Ambrose JC, Arumugam P, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR et al. ( 2022 ) . Assessing the digenic model in rare disorders using population sequencing data . European Journal of Human Genetics
Bacq A, Roussel D, Bonduelle T, Zagaglia S, Maletic M, Ribierre T, Adle-Biassette H, Marchal C et al. ( 2022 ) . Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy . Annals of Neurology vol. 91 , ( 1 ) 101 - 116 .
Magavern EF, Kaski JC, Turner RM, Drexel H, Janmohamed A, Scourfield A, Burrage D, Floyd CN et al. ( 2022 ) . 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 .
Yahya S, Smith CEL, Poulter JA, McKibbin M, Arno G, Ellingford J, Kämpjärvi K, Khan MI et al. ( 2022 ) . Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene . Ophthalmology
Magavern EF, Kaski JC, Turner RM, Drexel H, Janmohamed A, Scourfield A, Burrage D, Floyd CN et al. ( 2022 ) . 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 .
Graham SE, Clarke SL, Wu KHH, 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 .
Kanoni S, Graham S, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke S, Bhatti KF et al. ( 2021 ) . Implicating genes, pleiotropy and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis .
Niemi MEK, Karjalainen J, Liao RG, Neale BM, Daly M, Ganna A, Pathak GA, Andrews SJ et al. ( 2021 ) . Mapping the human genetic architecture of COVID-19 . Nature vol. 600 , ( 7889 ) 472 - 477 .
Ramdas S, Judd J, Graham S, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke S et al. ( 2021 ) . A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids .
Wei Y, Papachristou N, Mueller S, Ambrose JC, Arumugam P, Bleda M, Boardman-Pretty F, Boustred CR et al. ( 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 )
Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B et al. ( 2021 ) . Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders . Scientific Reports vol. 11 , ( 1 )
Silvennoinen K, Puvirajasinghe C, Hudgell K, Sidhu MK, Martins Custodio H, Jones WD, Balestrini S, Sisodiya SM et al. ( 2021 ) . Late diagnoses of Dravet syndrome: How many individuals are we missing? . Epilepsia Open vol. 6 , ( 4 ) 770 - 776 .
Jones CL, Degasperi A, Grandi V, Amarante TD, Ambrose JC, Arumugam P, Baple EL, Bleda M et al. ( 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 )
Smedley D, Smith KR, Martin A, 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 ,
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y et al. ( 2021 ) . Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies . Genetics in Medicine vol. 23 , ( 11 ) 2138 - 2149 .
Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V et al. ( 2021 ) . Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish . Genetics in Medicine vol. 23 , ( 10 ) 1933 - 1943 .
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 .
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 .
Zou X, Koh GCC, Nanda AS, Degasperi A, Urgo K, Roumeliotis TI, Agu CA, Badja C et al. ( 2021 ) . A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage . Nature Cancer vol. 2 , ( 6 ) 643 - 657 .
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 .
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
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 )
Boguslavskyi A, Tokar S, Prysyazhna O, Rudyk O, Sanchez-Tatay D, Lemmey HAL, Dora KA, Garland CJ et al. ( 2021 ) . Phospholemman Phosphorylation Regulates Vascular Tone, Blood Pressure, and Hypertension in Mice and Humans . Circulation vol. 143 , ( 11 ) 1123 - 1138 .
Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH ( 2021 ) . An online compendium of treatable genetic disorders . American Journal of Medical Genetics, Part C: Seminars in Medical Genetics vol. 187 , ( 1 ) 48 - 54 .
Magavern EF, Warren HR, Ng FL, Cabrera CP, Munroe PB, Caulfield MJ ( 2021 ) . An Academic Clinician's Road Map to Hypertension Genomics: Recent Advances and Future Directions MMXX . Hypertension vol. 77 , ( 2 ) 284 - 295 .
Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T et al. ( 2021 ) . New variants and in silico analyses in GRK1 associated Oguchi disease . Human Mutation vol. 42 , ( 2 ) 164 - 176 .
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
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 .
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, (2020), 11, 1, (1740), 10.1038/s41467-020-15336-3) . Nature Communications vol. 11 , ( 1 )
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 .
Steinthorsdottir V, McGinnis R, Williams NO, Stefansdottir L, Thorleifsson G, Shooter S, Fadista J, Sigurdsson JK et al. ( 2020 ) . Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women . Nature Communications vol. 11 , ( 1 )
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: Hypertension vol. 7 ,
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 .
Ntalla I, Weng LC, 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 )
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 .
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 )
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 .
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
Erzurumluoglu AM, Liu M, Jackson VE, Barnes DR, Datta G, Melbourne CA, Young R, Batini C et al. ( 2020 ) . Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci . Molecular Psychiatry vol. 25 , ( 10 ) 2392 - 2409 .
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 (United Kingdom) vol. 42 , ( 3 ) 451 - 460 .
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 ,
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 .
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 .
Raisi-Estabragh Z, McCracken C, Bethell M, Cooper J, Cooper C, Caulfield M, Munroe P, Harvey N 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 )
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 <sup>+</sup> E. coli . Nature vol. 580 , ( 7802 ) 269 - 273 .
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 .
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 .
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 )
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 )
Caulfield M ( 2019 ) . 6 Translating genomics for clinical benefit . Postgraduate Medical Journal . vol. 95 ,
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 .
Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK et al. ( 2019 ) . Associations of autozygosity with a broad range of human phenotypes . Nature Communications vol. 10 , ( 1 ) 4957 - 4957 .
Ng N, Willems S, Fernandez J, Fine R, Wheeler E, Wessel J, Kitajima H, Marenne G et al. ( 2019 ) . Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation .
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 .
Scott RH, Fowler TA, Caulfield M ( 2019 ) . Genomic medicine: time for health-care transformation . The Lancet vol. 394 , ( 10197 ) 454 - 456 .
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 .
Ntalla I, Weng L-C, Cartwright J, Hall AW, Sveinbjornsson G, Tucker N, Choi SH, Chaffin M et al. ( 2019 ) . Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction .
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T et al. ( 2019 ) . Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics, (2018), 50, 1, (26-41), 10.1038/s41588-017-0011-x) . Nature Genetics vol. 51 , ( 7 ) 1191 - 1192 .
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 .
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 .
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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 .
Sever PS, Dahlof B, Poulter NR, Wedel H, Beevers G, Caulfield M, Collins R, Kjeldsen SE et al. ( 2004 ) . 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 . DRUGS . vol. 64 , 43 - 60 .
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, Ssever P, Dahlöf B, Poulter NR, Wedel H, Beevers G, Caulfield M, Collins R et al. ( 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 . Zeitschrift fur Kardiologie vol. 92 , ( 7 )
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 .
Collier DJ, Martin TA, Angell-James JE, Bernardi L, Sleight P, Caulfield MJ ( 2002 ) . 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 , ( 4 )
Wilson S, Johnston A, Robson J, Poulter N, Collier D, Feder G, Caulfield M ( 2002 ) . Who should have their cholesterol measured? A comparison of selective cholesterol screening methods . American Journal of Hypertension vol. 15 , ( 4 )
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 .
Munroe PB, Knight J, Caulfield MJ ( 2000 ) . 1990-2000: Progress in determining high blood pressure genes . Annals of the Academy of Medicine Singapore vol. 29 , ( 3 ) 357 - 363 .
Munroe PB, Caulfield MJ ( 2000 ) . Genetics of hypertension . Current Opinion in Genetics and Development vol. 10 , ( 3 ) 325 - 329 .
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 .
Knight J, Gardner GTB, Clark AJL, Caulfield MJ ( 2000 ) . Investigation of chromosome 17q as a locus for human essential hypertension in African Caribbeans . Journal of Human Hypertension . vol. 14 , 385 - 387 .
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 .
Johnston L, Caulfield M, Savage M, Clark A ( 1999 ) . NESTEGG: detecting new genes that influence fetal and childhood growth . Acta Paediatrica vol. 88 , ( s433 ) 143 - 147 .
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 I ) 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: A European study . Hypertension vol. 31 , ( 3 ) 725 - 729 .
O'Byrne S, Caulfield M ( 1998 ) . Genetics of hypertension. Therapeutic implications . Drugs vol. 56 , ( 2 ) 203 - 214 .
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 )
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 , ( 4 )
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 β<inf>2</inf>-adrenoceptor . Hypertension vol. 30 , ( 4 ) 773 - 776 .
Caulfield M, Bouloux PM, Munroe P ( 1997 ) . Progress in determining the genes for hypertension, insulin resistance, and dyslipidemia . Annals of the New York Academy of Sciences . vol. 827 , 110 - 117 .
Daniel HI, Munroe PB, Kamdar SM, Lawson M, Lavender P, Forgaty P, Caulfield MJ ( 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 .
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 .
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 .
Caulfield M, Newell-Price J ( 1995 ) . The angiotensin converting enzyme gene in cardiovascular Disease . Heart vol. 74 , ( 3 ) 207 - 208 .
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, Caulfield M, Farrall M, Clark AJL ( 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 )
Caulfield M, Lavender P, Farrall M, Munroe P, Lawson M, Turner P, Clark AJL ( 1994 ) . Linkage of the angiotensinogen gene to essential hypertension . New England Journal of Medicine vol. 330 , ( 23 ) 1629 - 1633 .
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 .
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 and Experimental Toxicology vol. 11 , ( 4 ) 291 - 293 .
Raveendran R, Heybroek WM, Caulfield M, Abrams SML, Wrigley PFM, Slevin M, Turner P ( 1992 ) . Protein binding of indomethacin, methotrexate and morphine in patients with cancer . International Journal of Clinical Pharmacology Research vol. 12 , ( 3 ) 117 - 122 .
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 .
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 .
Saleh S, Caulfield M, Lledo P, Johnston A, Turner P ( 1990 ) . Debrisoquine-type genetic polymorphism differences in medifloxamine pharmacokinetics . European Journal of Pharmacology . vol. 183 ,
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 .
JENKINS BJ, CAULFIELD MJ, FOWLER CG, BADENOCH DF, TIPTAFT RC, PARIS AMI, HOPE‐STONE HF, OLIVER RTD et al. ( 1988 ) . Reappraisal of the Role of Radical Radiotherapy and Salvage Cystectomy in the Treatment of Invasive (T2/T3) Bladder Cancer . British Journal of Urology vol. 62 , ( 4 ) 343 - 346 .