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Research

Publications: Prosir Mark Caulfield

Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE et al. ( 2024 ) . Origins and impact of extrachromosomal DNA . Nature vol. 635 , ( 8037 ) 193 - 200 .
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
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 )
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 .
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R, Consortium GER, Ambrose JC, Arumugam P et al. ( 2024 ) . Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy . Genetics in Medicine Open vol. 2 ,
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 .
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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 )
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