Publications: Dr Charles Mein

Kowala A, Boot J, Meng J, Mein CA, Pourquié O, Connelly JT, Morgan JE, Lin Y-Y ( 2025 ) . Engineered human myogenic cells in hydrogels generate innervated vascularized myofibers within dystrophic mouse muscle on long-term engraftment . Cell Reports Medicine Article 102019 , 102019 - 102019 .

Goodchild E, Wu X, Senanayake R, MacFarlane J, Argentesi G, Laycock K, Bashari WA, Cabrera CP et al. ( 2025 ) . Molecular Imaging Versus Adrenal Vein Sampling for the Detection of Surgically Curable Primary Aldosteronism : A Prospective Within-Patient Trial . Annals of Internal Medicine vol. 178 , ( 3 ) 336 - 347 .

Vinel C, Boot J, Jin W, Pomella N, Hadaway A, Mein C, Zabet NR, Marino S ( 2025 ) . Mapping chromatin remodelling in glioblastoma identifies epigenetic regulation of key molecular pathways and novel druggable targets . BMC Biology vol. 23 , ( 1 )

Laycock K, Cabrera C, Wozniak E, Ng E, Wu X, Goodchild E, Azizan EAB, Boot J et al. ( 2024 ) . 8310 CACNA1D- and KCNJ5-Mutant Aldosterone-Producing Adenomas (APAs) Have Opposite 2-Year Clinical Outcomes from Adrenalectomy: Prospective Trial Findings Explained By Different Cells-Of-Origin . Journal of the Endocrine Society vol. 8 , ( Supplement_1 )

Vadgama A, Boot J, Dark N, Allan HE, Mein CA, Armstrong PC, Warner TD ( 2024 ) . Multiparameter phenotyping of platelets and characterization of the effects of agonists using machine learning . Research and Practice in Thrombosis and Haemostasis vol. 8 , ( 5 )

Tan XL, Chan J, Thomas B, Van Duijvenboden S, Hogan S, Hughes A, Tawfik S, Dhoat S et al. ( 2024 ) . O11 Associations between hyperlinearity of the sole and filaggrin variants in atopic eczema in a South Asian population: a cross-sectional study . British Journal of Dermatology vol. 191 , ( Supplement_1 ) i6 - i7 .

Humphreys DT, Lewis A, Pan‐Castillo B, Berti G, Mein C, Wozniak E, Gordon H, Gadhok R et al. ( 2024 ) . Single cell sequencing data identify distinct B cell and fibroblast populations in stricturing Crohn's disease . Journal of Cellular and Molecular Medicine vol. 28 , ( 9 )

Higham JP, Bhebhe CN, Gupta RA, Tranter MM, Barakat FM, Dogra H, Bab N, Wozniak E et al. ( 2024 ) . Transcriptomic profiling reveals a pronociceptive role for angiotensin II in inflammatory bowel disease . Pain vol. 165 , ( 7 ) 1592 - 1604 .

Batty P, Watson D, Wozniak E, Mein C, Barnes M ( 2023 ) . Transcriptomic Profiling to Understand Inhibitor Development in Previously Untreated Patients with Severe Hemophilia a . Blood vol. 142 , ( Supplement 1 )

Laycock K, Cabrera C, Wozniak E, Mein C, Azizan E, Wu X, Argentesi G, Goodchild E et al. ( 2023 ) . FRI144 Using Single Cell Technology To Predict The Cell Of Origin Of Aldosterone-producing Adrenal Adenomas . Journal of the Endocrine Society vol. 7 , ( Supplement_1 )

Wu X, Goodchild E, Senanayake R, Bashari W, Salsbury J, Cabrera CP, Argentesi G, O’Toole SM et al. ( 2023 ) . OR02-02 Pre-operative Blood Pressure Response To Aldosterone Antagonists And Urinary Hybrid Steroid Ratios Predict Clinical Outcomes In Unilateral Primary Aldosteronism For At Least 2 Years Post-adrenalectomy . Journal of the Endocrine Society vol. 7 , ( Supplement_1 )

Maiarù M, Acton RJ, Woźniak EL, Mein CA, Bell CG, Géranton SM ( 2023 ) . A DNA methylation signature in the stress driver gene Fkbp5 indicates a neuropathic component in chronic pain . Clinical Epigenetics vol. 15 , ( 1 )

Wu X, Azizan EAB, Goodchild E, Garg S, Hagiyama M, Cabrera CP, Fernandes-Rosa FL, Boulkroun S et al. ( 2023 ) . Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production . Nature Genetics vol. 55 , ( 6 ) 1009 - 1021 .

Jacobs BM, Schalk L, Dunne A, Scalfari A, Nandoskar A, Gran B, Mein CA, Sellers C et al. ( 2023 ) . ADAMS project: a genetic Association study in individuals from Diverse Ancestral backgrounds with Multiple Sclerosis based in the UK . BMJ Open vol. 13 , ( 5 )

Thomas BR, Tan XL, Van Duijvenboden S, Hogan SC, Hughes AJ, Tawfik SS, Dhoat S, Atkar R et al. ( 2023 ) . Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population . British Journal of Dermatology vol. 188 , ( 6 ) 785 - 792 .

Wu X, Senanayake R, Goodchild E, Bashari WA, Salsbury J, Cabrera CP, Argentesi G, O’Toole SM et al. ( 2023 ) . [11C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: a prospective, within-patient trial . Nature Medicine vol. 29 , ( 1 ) 190 - 202 .

Mesnage R, Panzacchi S, Bourne E, Mein CA, Perry MJ, Hu J, Chen J, Mandrioli D et al. ( 2022 ) . Glyphosate and its formulations Roundup Bioflow and RangerPro alter bacterial and fungal community composition in the rat caecum microbiome . Frontiers in Microbiology vol. 13 ,

Mesnage R, Panzacchi S, Bourne E, Mein C, Perry M, Hu J, Chen J, Mandrioli D et al. ( 2022 ) . SOC-IV-10 Glyphosate and its formulations Roundup Bioflow and RangerPro alter bacterial and fungal community composition in the rat caecum microbiome . Toxicology Letters vol. 368 ,

Mesnage R, Ibragim M, Mandrioli D, Falcioni L, Tibaldi E, Belpoggi F, Brandsma I, Bourne E et al. ( 2021 ) . Comparative Toxicogenomics of Glyphosate and Roundup Herbicides by Mammalian Stem Cell-Based Genotoxicity Assays and Molecular Profiling in Sprague-Dawley Rats . Toxicological Sciences vol. 186 , ( 1 ) 83 - 101 .

Mesnage R, Mahmud N, Mein CA, Antoniou MN ( 2021 ) . Alterations in small RNA profiles in liver following a subchronic exposure to a low-dose pesticide mixture in Sprague-Dawley rats . Toxicology Letters vol. 353 , 20 - 26 .

Ponnusamy V, Ip RTH, Mohamed MAEK, Clarke P, Wozniak E, Mein C, Schwendimann L, Barlas A et al. ( 2021 ) . Neuronal let-7b-5p acts through the Hippo-YAP pathway in neonatal encephalopathy . Communications Biology vol. 4 , ( 1 )

( 2021 ) . Correction: BS18 Profiling endothelial gene expression in coronary atherosclerotic plaques in a human-like D374Y-PCSK9 hyperlipidaemic porcine model . Heart vol. 107 , ( 19 ) e10 - e10 .

Cardosa SR, Ogunkolade BW, Lowe R, Savage E, Mein CA, Boucher BJ, Hitman GA ( 2021 ) . Areca catechu-(Betel-nut)-induced whole transcriptome changes in a human monocyte cell line that may have relevance to diabetes and obesity; a pilot study . BMC Endocrine Disorders vol. 21 , ( 1 )

Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al. ( 2021 ) . Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause . Nature Genetics

Naser J, Mein CA, Wozniak E, Carassiti D, Mahomed AS, Krams R, de Silva R ( 2021 ) . BS18 Profiling endothelial gene expression in coronary atherosclerotic plaques in a human-like D374Y-PCSK9 hyperlipidaemic porcine model . Heart . Conference: Heart vol. 107 , a166 - a167 .

Acton R, Yuan W, Gao F, Xia Y, Bourne E, Wozniak E, Bell J, Lillycrop K et al. ( 2021 ) . The Genomic Loci of Specific Human tRNA Genes Exhibit Ageing-Related DNA Hypermethylation . Nature Communications

Zhou J, Boulkroun S, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Argentesi G, Wu X et al. ( 2021 ) . CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype . Journal of the Endocrine Society vol. 5 , ( Suppl 1 ) a65 - a66 .

Mesnage R, Teixeira M, Mandrioli D, Falcioni L, Ibragim M, Ducarmon QR, Zwittink RD, Amiel C et al. ( 2021 ) . Multi-omics phenotyping of the gut-liver axis reveals metabolic perturbations from a low-dose pesticide mixture in rats . Communications Biology vol. 4 , ( 1 )

Thomas BR, Tan XL, Javadzadeh S, Robinson EJ, McDonald BS, Dhoat S, Krupiczojc MA, Rahman SR et al. ( 2021 ) . Phenotype association with filaggrin loss-of-function variants in 349 individuals with eczema from the Tower Hamlets Eczema Assessment (THEA) . BRITISH JOURNAL OF DERMATOLOGY . vol. 185 , 131 - 132 .

Crescente M, Armstrong PC, Kirkby NS, Edin ML, Chan MV, Lih FB, Jiao J, Maffucci T et al. ( 2020 ) . Profiling the eicosanoid networks that underlie the anti- and pro-thrombotic effects of aspirin . The FASEB Journal

Lone NM, Riaz S, Eusaph AZ, Mein CA, Wozniak EL, Xenakis T, Wu Z, Younis S et al. ( 2020 ) . Genotype-independent association between vitamin D deficiency and polycystic ovarian syndrome in Lahore, Pakistan . Scientific Reports vol. 10 , ( 1 )

Acton R, Yuan W, Gao F, Xia Y, Bourne E, Wozniak E, Bell J, Lillycrop K et al. ( 2019 ) . The Genomic Loci of Specific Human tRNA Genes Exhibit Ageing-Related DNA Hypermethylation .

Thomas AM, Cabrera CP, Finlay M, Lall K, Nobles M, Schilling RJ, Wood K, Mein CA et al. ( 2019 ) . Differentially expressed genes for atrial fibrillation identified by RNA sequencing from paired human left and right atrial appendages . Physiol Genomics vol. 51 , ( 8 ) 323 - 332 .

Biserni M, Mesnage R, Ferro R, Wozniak E, Xenakis T, Mein CA, Antoniou MN ( 2019 ) . Quizalofop-p-Ethyl Induces Adipogenesis in 3T3-L1 Adipocytes . Toxicological Sciences vol. 170 , ( 2 ) 452 - 461 .

Seaborne RA, Strauss J, Cocks M, Shepherd S, O’Brien TD, Someren KAV, Bell PG, Murgatroyd C et al. ( 2018 ) . Methylome of human skeletal muscle after acute & chronic resistance exercise training, detraining & retraining . Scientific Data vol. 5 , ( 1 )

Jolliffe DA, Greiller CL, Mein CA, Hoti M, Bakhsoliani E, Telcian AG, Simpson A, Barnes NC et al. ( 2018 ) . Vitamin D receptor genotype influences risk of upper respiratory infection . Br J Nutr1 - 10 .

Mesnage R, Biserni M, Wozniak E, Xenakis T, Mein CA, Antoniou MN ( 2018 ) . Comparison of transcriptome responses to glyphosate, isoxaflutole, quizalofop-p-ethyl and mesotrione in the HepaRG cell line . Toxicology Reports vol. 5 , 819 - 826 .

Mesnage R, Biserni M, Balu S, Frainay C, Poupin N, Jourdan F, Wozniak E, Xenakis T et al. ( 2018 ) . Integrated transcriptomics and metabolomics reveal signatures of lipid metabolism dysregulation in HepaRG liver cells exposed to PCB 126 . Archives of Toxicology vol. 92 , ( 8 ) 2533 - 2547 .

Soulsbury CD, Lipponen A, Wood K, Mein CA, Hoffman JI, Lebigre C ( 2018 ) . Age‐ and quality‐dependent DNA methylation correlate with melanin‐based coloration in a wild bird . Ecology and Evolution vol. 8 , ( 13 ) 6547 - 6557 .

KELSELL DP, O'TOOLE E, PIGORS M, SCOTT CA, Tabarra N, VAN HEEL DA ( 2018 ) . Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes . Journal of Investigative Dermatology

Carbajosa G, Malki K, Lawless N, Wang H, Ryder JW, Wozniak E, Wood K, Mein CA et al. ( 2018 ) . Loss of Trem2 in microglia leads to widespread disruption of cell coexpression networks in mouse brain . Neurobiology of Aging vol. 69 , 151 - 166 .

Gilbert RM, Zhang X, Sampson RD, Ehrenstein MR, Nguyen DX, Chaudhry M, Mein C, Mahmud N et al. ( 2018 ) . Clinical Remission of Sight-Threatening Non-Infectious Uveitis Is Characterized by an Upregulation of Peripheral T-Regulatory Cell Polarized Towards T-bet and TIGIT . Frontiers in Immunology vol. 9 , 907 - 907 .

Munroe PB, Addison S, Abrams DJ, Sebire NJ, Cartwright J, Donaldson I, Cohen MM, Mein C et al. ( 2018 ) . Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths . Circulation Genomic and Precision Medicine vol. 11 , ( 1 )

Clark LV, Buckland M, Murphy G, Taylor N, Vleck V, Mein C, Wozniak E, Smuk M et al. ( 2017 ) . Cytokine responses to exercise and activity in patients with chronic fatigue syndrome: case–control study . Clinical & Experimental Immunology vol. 190 , ( 3 ) 360 - 371 .

Das A, Rouault-Pierre K, Kamdar S, Gomez-Tourino I, Wood K, Donaldson I, Mein CA, Bonnet D et al. ( 2017 ) . Adaptive from Innate: Human IFN-γ+CD4+T Cells Can Arise Directly from CXCL8-Producing Recent Thymic Emigrants in Babies and Adults . J Immunol vol. 199 , ( 5 ) 1696 - 1705 .

Turner R, Bourne E, Mein C, Birring S, Shaheen S, Bothamley G ( 2016 ) . M12 TRPV1 polymorphism in chronic cough: no evidence for an effect on objective measurements of cough . Thorax . vol. 71 ,

Kitchen M, Bryan R, Emes R, Glossop J, Luscombe C, Cheng K, Zeegers M, James N et al. ( 2016 ) . 936 Quantitative genome-wide methylation analysis of high-grade non-muscle invasive bladder cancer . European Urology Open Science vol. 15 , ( 3 )

Kitchen MO, Bryan RT, Emes RD, Glossop JR, Luscombe C, Cheng KK, Zeegers MP, James ND et al. ( 2016 ) . Quantitative genome-wide methylation analysis of high-grade non-muscle invasive bladder cancer . Epigenetics vol. 11 , ( 3 ) 237 - 246 .

Kokkinopoulos I, Ishida H, Saba R, Ruchaya P, Cabrera C, Struebig M, Barnes M, Terry A et al. ( 2015 ) . Single-Cell Expression Profiling Reveals a Dynamic State of Cardiac Precursor Cells in the Early Mouse Embryo . PLOS ONE vol. 10 , ( 10 )

Salas-Alanis JC, Wozniak E, Mein CA, Mckinster CCD, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML et al. ( 2015 ) . Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia . Annals of Dermatology vol. 27 , ( 4 ) 474 - 477 .

Yousaf N, Low WY, Onipinla A, Mein C, Caulfield M, Munroe PB, Chernajovsky Y ( 2015 ) . Differences between disease-associated endoplasmic reticulum aminopeptidase 1 (ERAP1) isoforms in cellular expression, interactions with tumour necrosis factor receptor 1 (TNF-R1) and regulation by cytokines . Clinical & Experimental Immunology vol. 180 , ( 2 ) 289 - 304 .

Torrance HD, Brohi K, Pearse RM, Mein CA, Wozniak E, Prowle JR, Hinds CJ, O'Dwyer MJ ( 2015 ) . Association Between Gene Expression Biomarkers of Immunosuppression and Blood Transfusion in Severely Injured Polytrauma Patients . Annals of Surgery vol. 261 , ( 4 ) 751 - 759 .

Torrance HD, Brohi K, Pearse RM, Mein CA, Wozniak E, Prowle JR, Hinds CJ, O'Dwyer MJ ( 2015 ) . Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients . Annals of Surgery vol. 261 , ( 4 ) 751 - 759 .

Bulmer DC, Botha CA, Wheeldon A, Grey K, Mein CA, Lee K, Knowles CH, Winchester WJ et al. ( 2015 ) . Evidence of a role for GTP cyclohydrolase‐1 in visceral pain . Neurogastroenterology & Motility vol. 27 , ( 5 ) 656 - 662 .

Martineau AR, MacLaughlin BD, Hooper RL, Barnes NC, Jolliffe DA, Greiller CL, Kilpin K, McLaughlin D et al. ( 2015 ) . Double-blind randomised placebo-controlled trial of bolus-dose vitamin D3 supplementation in adults with asthma (ViDiAs) . Thorax vol. 70 , ( 5 )

Rautanen A, Mills TC, Gordon AC, Hutton P, Steffens M, Nuamah R, Chiche J-D, Parks T et al. ( 2014 ) . Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study . The Lancet Respiratory Medicine vol. 3 , ( 1 ) 53 - 60 .

Haworth KE, Farrell WE, Emes RD, Ismail KM, Carroll WD, Hubball E, Rooney A, Yates AM et al. ( 2014 ) . Methylation of the FGFR2 gene is associated with high birth weight centile in humans . Epigenomics vol. 6 , ( 5 ) 477 - 491 .

Jolliffe D, Martineau A, James W, Islam K, Mein C, Timms P, Walton R, Griffiths C ( 2014 ) . M145 Prevalence And Determinants Of Vitamin D Deficiency In Patients With Chronic Obstructive Pulmonary Disease . Thorax . vol. 69 , a215 - a216 .

Jolliffe D, Martineau A, Maclaughlin B, Kiplin K, Timms P, Mein C, Walton R, Griffiths C ( 2014 ) . P48 Prevalence And Determinants Of Vitamin D Deficiency In Asthma Patients . Thorax . vol. 69 , a94 - a95 .

Fryer AA, Emes RD, Ismail KMK, Haworth KE, Mein C, Carroll WD, Farrell WE ( 2014 ) . Quantitative, high-resolution epigenetic profiling of CpG loci identifies associations with cord blood plasma homocysteine and birth weight in humans . Epigenetics vol. 6 , ( 1 ) 86 - 94 .

Carter JA, Górecki DC, Mein CA, Ljungberg B, Hafizi S ( 2014 ) . CpG dinucleotide-specific hypermethylation of the TNS3 gene promoter in human renal cell carcinoma . Epigenetics vol. 8 , ( 7 ) 739 - 747 .

Torrance HD, Brohi K, Pearse RM, Mein CA, Wozniak E, Prowle JR, Hinds CJ, O’Dwyer MJ ( 2014 ) . Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients . Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine . vol. 22 ,

Addison S, Munroe P, Mein C, Cohen M, Fowler D, Sebire N, Peebles D, Taylor A et al. ( 2014 ) . 8.2 Cardiac Ion Channelopathies in Unexplained Stillbirths . Archives of Disease in Childhood Fetal & Neonatal vol. 99 , ( Suppl 1 )

Hill MJ, Donocik JG, Nuamah RA, Mein CA, Sainz-Fuertes R, Bray NJ ( 2014 ) . Transcriptional consequences of schizophrenia candidate miR-137 manipulation in human neural progenitor cells . Schizophrenia Research vol. 153 , ( 1-3 ) 225 - 230 .

Riebler A, Menigatti M, Song JZ, Statham AL, Stirzaker C, Mahmud N, Mein CA, Clark SJ et al. ( 2014 ) . BayMeth: improved DNA methylation quantification for affinity capture sequencing data using a flexible Bayesian approach . Genome Biology vol. 15 , ( 2 )

Okosun J, Bödör C, Wang J, Araf S, Yang CY, Pan C, Boller S, Cittaro D et al. ( 2014 ) . Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma . Nature Genetics vol. 46 , ( 2 ) 176 - 181 .

Torrance HDT, Brohi K, Pearse RM, Mein CA, Wozniak E, Prowle JR, Hinds CJ, O’Dwyer MJ ( 2014 ) . Association between gene expression biomarkers of immunosuppression and blood transfusion in severely injured polytrauma patients . Scandinavian journal of trauma, resuscitation and emergency medicine vol. 22 , ( Suppl 1 ) O7 - O7 .

Pryce G, Visintin C, Ramagopalan SV, Al‐Izki S, De Faveri LE, Nuamah RA, Mein CA, Montpetit A et al. ( 2013 ) . Control of spasticity in a multiple sclerosis model using central nervous system‐excluded CB1 cannabinoid receptor agonists . The FASEB Journal vol. 28 , ( 1 ) 117 - 130 .

Coussens AK, Wilkinson RJ, Nikolayevskyy V, Elkington PT, Hanifa Y, Islam K, Timms PM, Bothamley GH et al. ( 2013 ) . Ethnic Variation in Inflammatory Profile in Tuberculosis . PLOS Pathogens . vol. 9 ,

Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H et al. ( 2013 ) . Negligible impact of rare autoimmune-locus coding-region variants on missing heritability . Nature vol. 498 , ( 7453 ) 232 - 235 .

Coussens AK, Wilkinson RJ, Nikolayevskyy V, Elkington PT, Hanifa Y, Islam K, Timms PM, Bothamley GH et al. ( 2013 ) . Ethnic variation in inflammatory profile in tuberculosis . PLoS Pathog vol. 9 , ( 7 )

Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H et al. ( 2013 ) . Negligible impact of rare autoimmune-locus coding-region variants on missing heritability . Nature vol. 498 , ( 7453 ) 232 - 235 .

Gueorguiev M, Lecoeur C, Meyre D, Benzinou M, Mein CA, Hinney A, Vatin V, Weill J et al. ( 2012 ) . Association Studies on Ghrelin and Ghrelin Receptor Gene Polymorphisms With Obesity . Obesity vol. 17 , ( 4 ) 745 - 754 .

Coussens AK, Wilkinson RJ, Hanifa Y, Nikolayevskyy V, Elkington PT, Islam K, Timms PM, Venton TR et al. ( 2012 ) . Vitamin D accelerates resolution of inflammatory responses during tuberculosis treatment . Proceedings of the National Academy of Sciences of the United States of America vol. 109 , ( 38 ) 15449 - 15454 .

Brouilette S, Kuersten S, Mein C, Bozek M, Terry A, Dias K, Bhaw‐Rosun L, Shintani Y et al. ( 2012 ) . A simple and novel method for RNA‐seq library preparation of single cell cDNA analysis by hyperactive Tn5 transposase . Developmental Dynamics vol. 241 , ( 10 ) 1584 - 1590 .

Addison S, Sebire NJ, Taylor AM, Abrams D, Peebles D, Mein C, Munroe PB, Thayyil S ( 2012 ) . High quality genomic DNA extraction from postmortem fetal tissue . The Journal of Maternal-Fetal & Neonatal Medicine vol. 25 , ( 11 ) 2467 - 2469 .

Wright WR, Parzych K, Crawford D, Mein C, Mitchell JA, Paul-Clark MJ ( 2012 ) . Inflammatory Transcriptome Profiling of Human Monocytes Exposed Acutely to Cigarette Smoke . PLOS ONE vol. 7 , ( 2 )

Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC et al. ( 2011 ) . Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry . Nature Genetics vol. 44 , ( 1 ) 3 - 5 .

Johnson T, Gaunt TR, Newhouse SJ, Padmanabhan S, Tomaszewski M, Kumari M, Morris RW, Tzoulaki I et al. ( 2011 ) . Blood Pressure Loci Identified with a Gene-Centric Array . American Journal of Human Genetics vol. 89 , ( 6 ) 688 - 700 .

VAN HEEL D ( 2011 ) . Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease . Nature Genetics

Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT et al. ( 2011 ) . Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease . Nat Genet vol. 43 , ( 12 ) 1193 - 1201 .

Addison S, Sebire NJ, Judge-Kronis L, Taylor AM, Abrams D, Scott R, Robertson NJ, Peebles D et al. ( 2011 ) . Genomic Deoxyribonucleic Acid Extraction from Post Mortem Fetal Tissue . Pediatric Research vol. 70 , ( Suppl 5 ) 406 - 406 .

Rakyan VK, Beyan H, Down TA, Hawa MI, Maslau S, Aden D, Daunay A, Busato F et al. ( 2011 ) . Identification of Type 1 Diabetes–Associated DNA Methylation Variable Positions That Precede Disease Diagnosis . PLOS Genetics . vol. 7 ,

Rakyan VK, Beyan H, Down TA, Hawa MI, Maslau S, Aden D, Daunay A, Busato F et al. ( 2011 ) . Identification of type 1 diabetes-associated DNA methylation variable positions that precede disease diagnosis . PLoS Genet vol. 7 , ( 9 )

Pathan N, Burmester M, Adamovic T, Berk M, Ng KW, Betts H, Macrae D, Waddell S et al. ( 2011 ) . Intestinal Injury and Endotoxemia in Children Undergoing Surgery for Congenital Heart Disease . American Journal of Respiratory and Critical Care Medicine vol. 184 , ( 11 ) 1261 - 1269 .

Froeling FEM, Feig C, Chelala C, Dobson R, Mein CE, Tuveson DA, Clevers H, Hart IR et al. ( 2011 ) . Retinoic Acid–Induced Pancreatic Stellate Cell Quiescence Reduces Paracrine Wnt–β-Catenin Signaling to Slow Tumor Progression . Gastroenterology vol. 141 , ( 4 ) 1486 - 1497.e14 .

Watt SA, Pourreyron C, Purdie K, Hogan C, Cole CL, Foster N, Pratt N, Bourdon J-C et al. ( 2011 ) . Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma . Oncogene vol. 30 , ( 46 ) 4666 - 4677 .

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N et al. ( 2011 ) . Harlequin Ichthyosis: A Review of Clinical and Molecular Findings in 45 Cases . JAMA Dermatology vol. 147 , ( 6 ) 681 - 686 .

Husain EA, Mein C, Pozo L, Blanes A, Diaz-Cano SJ ( 2011 ) . Heterogeneous topographic profiles of kinetic and cell cycle regulator microsatellites in atypical (dysplastic) melanocytic nevi . Modern Pathology vol. 24 , ( 4 ) 471 - 486 .

Martineau AR, Timms PM, Bothamley GH, Hanifa Y, Islam K, Claxton AP, Packe GE, Moore-Gillon JC et al. ( 2011 ) . High-dose vitamin D(3) during intensive-phase antimicrobial treatment of pulmonary tuberculosis: a double-blind randomised controlled trial . Lancet vol. 377 , Article 9761 , 242 - 250 .

Debernardi S, Marzec J, Manodoro F, Dobson R, Mein C, Curtotti A, Mitchell M, Young BD ( 2010 ) . Discovery and Quantification of Small RNA Molecules In Acute Myeloid Leukaemia Using Solexa High-Throughput Clonal Sequencing . Blood . vol. 116 ,

Maeda E, Fleischmann C, Mein CA, Shelton JC, Bader DL, Lee DA ( 2010 ) . Functional analysis of tenocytes gene expression in tendon fascicles subjected to cyclic tensile strain . Connective Tissue Research vol. 51 , ( 6 ) 434 - 444 .

Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GAR et al. ( 2010 ) . Erratum: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression . Nature Genetics vol. 42 , ( 5 ) 465 - 465 .

Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GAR et al. ( 2010 ) . Erratum: Multiple common variants for celiac disease influencing immune gene expression (Nature Genetics DOI: 10.1038/ng.543) . Nature Genetics vol. 42 , ( 5 )

Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GAR et al. ( 2010 ) . Multiple common variants for celiac disease influencing immune gene expression . Nature Genetics vol. 42 , ( 4 ) 295 - 302 .

Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJC, Winik BC, Asial RA, Dobson R, Mein CA et al. ( 2010 ) . Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children . Journal of Investigative Dermatology vol. 130 , ( 6 ) 1543 - 1550 .

Paige AJW, Zucknick M, Janczar S, Paul J, Mein CA, Taylor KJ, Stewart M, Gourley C et al. ( 2010 ) . WWOX tumour suppressor gene polymorphisms and ovarian cancer pathology and prognosis . European Journal of Cancer vol. 46 , ( 4 ) 818 - 825 .

Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Campbell T, Al-Dujaily H, Hummerich H et al. ( 2009 ) . A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure . New England Journal of Medicine vol. 361 , ( 21 ) 2056 - 2065 .

Heap GA, Yang JHM, Downes K, Healy BC, Hunt KA, Bockett N, Franke L, Dubois PC et al. ( 2009 ) . Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing . Human Molecular Genetics vol. 19 , ( 1 ) 122 - 134 .

O'Riain C, O'Shea DM, Yang Y, Le Dieu R, Gribben JG, Summers K, Yeboah-Afari J, Bhaw-Rosun L et al. ( 2009 ) . Array-based DNA methylation profiling in follicular lymphoma . Leukemia vol. 23 , ( 10 ) 1858 - 1866 .

Martins VL, Vyas JJ, Chen M, Purdie K, Mein CA, South AP, Storey A, McGrath JA et al. ( 2009 ) . Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen . Journal of Cell Science vol. 122 , ( 11 ) 1788 - 1799 .

Heap GA, van Heel DA ( 2009 ) . The genetics of chronic inflammatory diseases . Human Molecular Genetics vol. 18 , ( R1 ) r101 - r106 .

Iorns E, Lord CJ, Grigoriadis A, McDonald S, Fenwick K, MacKay A, Mein CA, Natrajan R et al. ( 2009 ) . Integrated Functional, Gene Expression and Genomic Analysis for the Identification of Cancer Targets . PLOS ONE vol. 4 , ( 4 )

Sinclair C, O’Toole EA, Paige D, Bashir HE, Robinson J, Dobson R, Lench N, Stevens HP et al. ( 2009 ) . Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population . British Journal of Dermatology vol. 160 , ( 5 ) 1113 - 1115 .

Gueorguiev M, Lecoeur C, Benzinou M, Mein CA, Meyre D, Vatin V, Weill J, Heude B et al. ( 2009 ) . A Genetic Study of the Ghrelin and Growth Hormone Secretagogue Receptor (GHSR) Genes and Stature . Annals of Human Genetics vol. 73 , ( 1 ) 1 - 9 .

Yuan M, Tomlinson V, Lara R, Holliday D, Chelala C, Harada T, Gangeswaran R, Manson-Bishop C et al. ( 2008 ) . Yes-associated protein (YAP) functions as a tumor suppressor in breast . Cell Death & Differentiation vol. 15 , ( 11 ) 1752 - 1759 .

Mead S, Poulter M, Beck J, Uphill J, Jones C, Ang CE, Mein CA, Collinge J ( 2008 ) . Successful amplification of degraded DNA for use with high‐throughput SNP genotyping platforms . Human Mutation vol. 29 , ( 12 ) 1452 - 1458 .

Dixon-McIver A, East P, Mein CA, Cazier J-B, Molloy G, Chaplin T, Lister TA, Young BD et al. ( 2008 ) . Distinctive Patterns of MicroRNA Expression Associated with Karyotype in Acute Myeloid Leukaemia . PLOS ONE vol. 3 , ( 5 )

Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, Bruinenberg M, Romanos J, Dinesen LC et al. ( 2008 ) . Newly indentified genetic risk variants for celiac disease related to the immune response . Nat Genet vol. 40 , ( 4 ) 395 - 402 .

Dobson RJB, Munroe PB, Mein CA, Caulfield MJ, Saqi MAS ( 2008 ) . Combining Protein-Protein Interaction (PPI) Network and Sequence Attributes for Predicting Hypertension Related Proteins . Communications in Computer and Information Science . vol. 13 , 377 - 391 .

O'Riain C, O'Shea D, Yang Y, Gribben J, Afari J, Mein CA, Crook T, Smith P et al. ( 2008 ) . Methylation profiling in 158 cases of previously untreated follicular lymphoma (FL) . ANNALS OF ONCOLOGY . vol. 19 , 101 - 101 .

Zavarella S, Petrone A, Zampetti S, Gueorguiev M, Spoletini M, Mein CA, Leto G, Korbonits M et al. ( 2007 ) . A new variation in the promoter region, the −604 C>T, and the Leu72Met polymorphism of the ghrelin gene are associated with protection to insulin resistance . International Journal of Obesity vol. 32 , ( 4 ) 663 - 668 .

Dixon-McIver A, East P, Mein CA, Cazier J-B, Molloy G, Chaplin T, Lister TA, Young B et al. ( 2007 ) . Association of MicroRNA Expression Profiles with Karyotype in Acute Myeloid Leukaemias Revealed by Real-Time PCR and In Situ Hybridisation . Blood . vol. 110 ,

Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc‐Carel C et al. ( 2007 ) . Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis . British Journal of Dermatology vol. 158 , ( 3 ) 611 - 613 .

KORBONITS MJ, Hitman GA, Grossman AB, Gueorguiev M, Mein C, Froguel P, McCarthy MI, Hattersley AT et al. ( 2007 ) . Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes . J Clin Endocrinol Metab vol. 92 , ( 6 ) 2201 - 2204 .

Kelsell DP, Blaydon D, Mein CA ( 2007 ) . Identifying Mutations in Single Gene Disorders . 145 - 164 .

Sinclair C, O'Toole EA, Paige D, Mein CA, Kelsell DP ( 2007 ) . A comprehensive survey of 28 candidate genes for atopic dermatitis using a hapTAG approach in a unique Bangladeshi population of East London . BRITISH JOURNAL OF DERMATOLOGY . vol. 156 , 1103 - 1103 .

Baykal C, Tulunay G, Özfuttu A, Jacobs I, Mein CA, Küçükali T, Ayhan A ( 2007 ) . Breast and ovarian carcinoma in the same patient, metastasis or dual primaries? . Turkish Journal of Cancer vol. 37 , ( 1 ) 27 - 30 .

Bell CG, Meyre D, Petretto E, Levy-Marchal C, Hercberg S, Charles MA, Boyle C, Weill J et al. ( 2006 ) . No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases . European Journal of Human Genetics vol. 15 , ( 3 ) 320 - 327 .

KELSELL DP, O'Toole EA, Mein C, Thomas A, Fleckman P, Goodyear H, Wilroy R, DeLozier C et al. ( 2006 ) . ABCA12 is the major Harlequin Ichthyosis gene . Journal of Investigative Dermatology vol. 126 , 2408 - 2413 .

Arita K, Jacyk WK, Wessagowit V, van Rensburg EJ, Chaplin T, Mein CA, Akiyama M, Shimizu H et al. ( 2006 ) . The South African “Bathing Suit Ichthyosis” Is a Form of Lamellar Ichthyosis Caused by a Homozygous Missense Mutation, p.R315L, in Transglutaminase 1 . Journal of Investigative Dermatology vol. 127 , ( 2 ) 490 - 493 .

Van Trappen PO, Cullup T, Troke R, Swann D, Shepherd JH, Jacobs IJ, Gayther SA, Mein CA ( 2006 ) . Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer . Gynecologic Oncology vol. 104 , ( 1 ) 129 - 133 .

Munroe PB, CAULFIELD MJ, Newhouse SJ, Mein CA, Wallace C, Clayton D, Webster J, Lathrop M et al. ( 2006 ) . Increased support for linkage of a novel locus on chromosome 5q13 for essential hypertension in the British Genetics of Hypertension Study . Hypertension vol. 48 , ( 1 ) 105 - 111 .

Munroe PB, CAULFIELD MJ, Wallace C, Newhouse SJ, Clayton DG, Samani NJ, Farrall M, Dominiczak A et al. ( 2006 ) . Linkage Analysis Using Co-Phenotypes in the BRIGHT Study Reveals Novel Potential Susceptibility Loci for Hypertension . The American Journal of Human Genetics vol. 79 , ( 2 ) 323 - 331 .

Munroe PB, CAULFIELD MJ, Wallace C, Mein C, Pembroke J, Wiltshire D, Dobson R, Bell JT et al. ( 2006 ) . Two-dimensional genome-scan identifies novel epistatic loci for essential hypertension . Hum Mol Genet vol. 15 , ( 8 ) 1365 - 1374 .

Bell CG, Meyre D, Samson C, Boyle C, Lecoeur C, Tauber M, Jouret B, Jaquet D et al. ( 2005 ) . Association of Melanin-Concentrating Hormone Receptor 1 5′ Polymorphism With Early-Onset Extreme Obesity . Diabetes vol. 54 , ( 10 ) 3049 - 3055 .

Roussel Y, Wilks M, Harris A, Mein C, Tabaqchali S ( 2005 ) . Evaluation of DNA extraction methods from mouse stomachs for the quantification of H. pylori by real-time PCR . Journal of Microbiological Methods vol. 62 , ( 1 ) 71 - 81 .

MUNROE PB, Caulfield M, Dobson R, Newhouse SJ, Lathrop GM, Connell JM, Samani N, Clayton D 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 . Human Molecular Genetics vol. 14 , ( 13 ) 1805 - 1814 .

KELSELL DP, Leigh IM, O'Toole EA, Mein CA, Norgett EE, Unsworth H, Cullup T, Sybert VP et al. ( 2005 ) . Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis . Am J Hum Genet vol. 76 , 794 - 803 .

Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Kennedy CT et al. ( 2005 ) . Clinical and molecular features of Harlequin ichthyosis . BRITISH JOURNAL OF DERMATOLOGY . vol. 153 , 5 - 5 .

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

Buzzetti R, Petrone A, Caiazzo AM, Alemanno I, Zavarella S, Capizzi M, Mein CA, Osborn JA et al. ( 2004 ) . PPAR-γ2 Pro12Ala Variant Is Associated with Greater Insulin Sensitivity in Childhood Obesity . Pediatric Research vol. 57 , ( 1 ) 138 - 140 .

Brinkmann D, Ryan A, Ayhan A, McCluggage WG, Feakins R, Santibanez-Koref MF, Mein CA, Gayther SA et al. ( 2004 ) . A Molecular Genetic and Statistical Approach for the Diagnosis of Dual-Site Cancers . Journal of the National Cancer Institute vol. 96 , ( 19 ) 1441 - 1446 .

Buzzetti R, Petrone A, Ribaudo MC, Alemanno I, Zavarella S, Mein CA, Maiani F, Tiberti C et al. ( 2004 ) . The common PPAR-γ2 Pro12Ala variant is associated with greater insulin sensitivity . European Journal of Human Genetics vol. 12 , ( 12 ) 1050 - 1054 .

Bell CG, Benzinou M, Siddiq A, Lecoeur C, Dina C, Lemainque A, Clément K, Basdevant A et al. ( 2004 ) . Genome-wide Linkage Analysis for Severe Obesity in French Caucasians Finds Significant Susceptibility Locus on Chromosome 19q . Diabetes vol. 53 , ( 7 ) 1857 - 1865 .

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 ,

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

MUNROE PB, CAULFIELD MJ, MEIN CA, DOBSON MJ ( 2004 ) . Genetics of Essential Hypertension . Hum Mol Genet vol. 13 SPEC 1 , R169 - R175 .

Froguel P, HITMAN GA, McDermott MF, Mein CA, Allotey RA, Cassell PG, Sinnot PJ, Snehalatha C et al. ( 2004 ) . The EIF2AK3 gene region and type I diabetes in subjects from South India . Genes Immun vol. 5 , 648 - 652 .

Twells RCJ, Mein CA, Phillips MS, Hess JF, Veijola R, Gilbey M, Bright M, Metzker M et al. ( 2003 ) . Haplotype Structure, LD Blocks, and Uneven Recombination Within the LRP5 Gene . Genome Research vol. 13 , ( 5 ) 845 - 855 .

Twells RCJ, Mein CA, Payne F, Veijola R, Gilbey M, Bright M, Timms A, Nakagawa Y et al. ( 2003 ) . Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes . Human Genetics vol. 113 , ( 2 ) 99 - 105 .

Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P et al. ( 2003 ) . Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome . American Journal of Human Genetics vol. 72 , ( 5 ) 1187 - 1199 .

Petrone A, Zavarella S, Capizzi M, Baroni M, Galgani A, Fioretti F, Fiori R, Alemanno I et al. ( 2003 ) . Adiponectin gene is associated with obesity and obesity correlated traits in childhood . DIABETOLOGIA . vol. 46 , A137 - A137 .

KORBONITS MJ, Grossman AB, Gueorguiev M, Lecoeur C, O'Grady E, Froguel P, Weill J, Swan DC et al. ( 2002 ) . A Variation in the Ghrelin Gene Increases Weight and Decreases Insulin Secretion in Tall, Obese Children . Journal of Clinical Endocrinology & Metabolism vol. 87 , ( 8 ) 4005 - 4008 .

Allotey RA, Mohan V, McDermott MF, Deepa R, Premalatha G, Hassan Z, Cassell PG, North BV et al. ( 2002 ) . Association between <i>E1F2AK3</i> gene region and Type 1 diabetes in Southern Indian subjects . DIABETOLOGIA . vol. 45 , A111 - A111 .

Mein CA ( 2001 ) . ‘ome on the range . Trends in Biotechnology . vol. 19 , 240 - 241 .

Mein CA, Barratt BJ, Dunn MG, Siegmund T, Smith AN, Esposito L, Nutland S, Stevens HE et al. ( 2000 ) . Evaluation of Single Nucleotide Polymorphism Typing with Invader on PCR Amplicons and Its Automation . Genome Research vol. 10 , ( 3 ) 330 - 343 .

Mein C, Esposito L, Dunn MG, Johnson GCL, Timms AE, Goy JV, Smith AN, Sebag-Montefiore L et al. ( 1998 ) . A search for type 1 diabetes susceptibility genes in families from the United Kingdom . Nature Genetics vol. 19 , ( 3 ) 297 - 300 .

Gale RE, Mein CA, Linch DC ( 1996 ) . Quantification of X-chromosome inactivation patterns in haematological samples using the DNA PCR-based HUMARA assay . Leukemia vol. 10 , ( 2 ) 362 - 367 .