Publications:  Prof Patricia Munroe

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)

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 (Oxford, England)

Raisi-Estabragh Z, Cooper J, Judge R, Khanji M, Munroe P, Cooper C, Harvey NC, Petersen S(2020). Age, sex and disease-specific associations between resting heart rate and cardiovascular mortality in the UK BIOBANK. PLoS One

Raisi-Estabragh Z, Kenawy AAM, Aung N, Cooper J, Munroe PB, Harvey NC, Petersen SE, Khanji MY(2020). Variation in left ventricular cardiac magnetic resonance normal reference ranges: systematic review and meta-analysis. Eur Heart J Cardiovasc Imaging

de las Fuentes L, Sung YJ, Noordam R, Winkler T, Feitosa MF, Schwander K, Bentley AR, Brown MR et al.(2020). Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci. Molecular Psychiatry

Nicholls HL, John CR, Watson DS, Munroe PB, Barnes MR, Cabrera CP(2020). Reaching the End-Game for GWAS: Machine Learning Approaches for the Prioritization of Complex Disease Loci. Frontiers in Genetics vol. 11,

Alimadadi A, Aryal S, Manandhar I, Munroe PB, Joe B, Cheng X(2020). Artificial intelligence and machine learning to fight COVID-19. Physiol Genomics vol. 52, (4) 200-202.

Alimadadi A, Munroe PB, Joe B, Cheng X(2020). Meta-analysis of dilated cardiomyopathy using cardiac rna-seq transcriptomic datasets. Genes vol. 11, (1)

Ramírez J, van Duijvenboden S, Young WJ, Orini M, Lambiase PD, Munroe PB, Tinker A(2020). Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval. American Journal of Human Genetics

Aung N, Doimo S, Ricci F, Sanghvi MM, Pedrosa C, Woodbridge SP, Al-Balah A, Zemrak F et al.(2020). Prognostic significance of left ventricular noncompaction: Systematic review and meta-analysis of observational studies. Circulation: Cardiovascular Imaging

Fung K, Ramírez J, Warren HR, Aung N, Lee AM, Tzanis E, Petersen SE, Munroe PB(2019). Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants. Scientific Reports vol. 9, (1)

Noordam R, Bos MM, Wang H, Winkler TW, Bentley AR, Kilpeläinen TO, de Vries PS, Sung YJ et al.(2019). Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration. Nature Communications vol. 10, (1)

Kilpeläinen TO, Bentley AR, Noordam R, Sung YJ, Schwander K, Winkler TW, Jakupovi¿ H, Chasman DI et al.(2019). Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. Nature Communications vol. 10, (1)

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.

Munroe PB, Ramírez J, van Duijvenboden S(2019). Resting Heart Rate and Type 2 Diabetes: A Complex Relationship in Need of Greater Understanding. Journal of the American College of Cardiology vol. 74, (17) 2175-2177.

Teumer A, Trenkwalder T, Kessler T, Jamshidi Y, van den Berg ME, Kaess B, Nelson CP, Bastiaenen R et al.(2019). KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern. JCI insight

Timasheva Y, Zudina L, Balkhiyarova Z, Kaakinen M, Munroe P, Prokopenko I (2019). Analysis of cardiometabolic traits highlights shared biological pathways. EUROPEAN HEART JOURNAL. vol. 40, 2643-2643.

Ramírez J, van Duijvenboden S, Aung N, Laguna P, Pueyo E, Tinker A, Lambiase PD, Orini M et al.(2019). Cardiovascular Predictive Value and Genetic Basis of Ventricular Repolarization Dynamics. Circulation: Arrhythmia and Electrophysiology vol. 12, (10) e007549-e007549.

Petersen S, Munroe P, Aung N, Fung K, Vargas J, Yang C, Cabrera CP, Warren H et al.(2019). Genome-wide analysis of left ventricular image-derived phenotypes identifies fourteen loci associated with cardiac morphogenesis and heart failure development. Circulation

Noordam R, Young WJ, Munroe PB(2019). Electrolytes and electrophysiology: What's next?. Aging vol. 11, (18) 7329-7330.

Iniesta R, Campbell D, Venturini C, Faconti L, Singh S, Irvin MR, Cooper-DeHoff RM, Johnson JA et al.(2019). Gene Variants at Loci Related to Blood Pressure Account for Variation in Response to Antihypertensive Drugs Between Black and White Individuals. Hypertension vol. 74, (3) 614-622.

Singh S, Warren HR, Hiltunen TP, McDonough CW, El Rouby N, Salvi E, Wang Z, Garofalidou T et al.(2019). Genome-Wide Meta-Analysis of Blood Pressure Response to β<inf>1</inf>-Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies). Journal of the American Heart Association vol. 8, (16)

Cartwright JH, Aziz Q, Harmer SC, Thayyil S, Tinker A, Munroe PB(2019). Genetic variants in TRPM7 associated with unexplained stillbirth modify ion channel function. Hum Mol Genet

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.

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.

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.

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.

De Vries PS, Brown MR, Bentley AR, Sung YJ, Winkler TW, Ntalla I, Schwander K, Kraja AT et al.(2019). Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. American Journal of Epidemiology vol. 188, (6) 1033-1054.

Bentley AR, Sung YJ, Brown MR, Winkler TW, Kraja AT, Ntalla I, Schwander K, Chasman DI et al.(2019). Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. Nature Genetics vol. 51, (4) 636-648.

Bastiaenen R, Nolte IM, Munroe PB, Riese H, Nelson C, O'Connor H, Gang Y, Warren HR et al.(2019). The narrow-sense and common single nucleotide polymorphism heritability of early repolarization. International Journal of Cardiology vol. 279, 135-140.

Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL et al.(2019). Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nature Genetics vol. 51, (3) 452-469.

Erzurumluoglu AM, Liu M, Jackson VE, Barnes DR, Datta G, Melbourne CA, Young R, Batini C et al.(2019). Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci. Molecular Psychiatry

Giri A, Hellwege JN, Keaton JM, Park J, Qiu C, Warren HR, Torstenson ES, Kovesdy CP et al.(2019). Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. Nature Genetics vol. 51, (1) 51-62.

Parn K, Pirinen M, Kals M, Magi R, Salomaa V, Boehnke M, Hall I, Stitziel N et al. (2018). Differences in the commonly used genotype imputation algorithms and their imputation accuracy estimates. Proceedings - IEEE 14th International Conference on eScience, e-Science 2018. 293-294.

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

van Setten J, Brody JA, Jamshidi Y, Swenson BR, Butler AM, Campbell H, Del Greco FM, Evans DS et al.(2018). PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nature Communications vol. 9, (1)

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

Ramírez J, Duijvenboden SV, Ntalla I, Mifsud B, Warren HR, Tzanis E, Orini M, Tinker A et al.(2018). Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system. Nature Communications vol. 9, (1)

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

Ramirez J, Van Duijvenboden S, Laguna P, Pueyo E, Tinker A, Lambiase PD, Munroe PB, Orini M (2018). Assessing a Warping Methodology for the Identification of Increased Cardiovascular Risk Based on the HR Profile Morphology. Computing in Cardiology. Conference: Computing in Cardiology (Maastricht, The Netherlands) from: 23/09/2018 to: 26/09/2018, vol. 2018-September,

PETERSEN SE, AUNG N, SANGHVI M, ZEMRAK F, LEE A, COOPER J, PAIVA J, Thomson R et al.(2018). Association between ambient air pollution and cardiac morpho-functional phenotypes: Insights from the UK Biobank population imaging study. Circulation

Prins BP, Mead TJ, Brody JA, Sveinbjornsson G, Ntalla I, Bihlmeyer NA, van den Berg M, Bork-Jensen J et al.(2018). Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Genome Biology vol. 19, (1)

Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ et al.(2018). Analysis of shared heritability in common disorders of the brain. Science vol. 360, (6395)

Ruderfer DM, Ripke S, McQuillin A, Boocock J, Stahl EA, Pavlides JMW, Mullins N, Charney AW et al.(2018). Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes. Cell

Feitosa MF, Kraja AT, Chasman DI, Sung YJ, Winkler TW, Ntalla I, Guo X, Franceschini N et al.(2018). Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PLoS One vol. 13, (6) e0198166-e0198166.

Lin H, van Setten J, Smith AV, Bihlmeyer NA, Warren HR, Brody JA, Radmanesh F, Hall L et al.(2018). Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval. Circulation. Genomic and precision medicine vol. 11, (5)

Smith AJP, Deloukas P, Munroe PB(2018). Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits. Physiol Genomics

Sung YJ, Winkler TW, de las Fuentes L, Bentley AR, Brown MR, Kraja AT, Schwander K, Ntalla I et al.(2018). A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. American Journal of Human Genetics vol. 102, (3) 375-400.

Orini M, Tinker A, Munroe PB, Lambiase PD(2018). Correction: Long-term intra-individual reproducibility of heart rate dynamics during exercise and recovery in the UK Biobank cohort. PLoS One vol. 13, (2) e0193039-e0193039.

McCarthy NS, Vangjeli C, Surendran P, Treumann A, Rooney C, Ho E, Sever P, Thom S et al.(2018). Genetic variants in PPARGC1B and CNTN4 are associated with thromboxane A<inf>2</inf> formation and with cardiovascular event free survival in the Anglo-Scandinavian Cardiac Outcomes Trial (ASCOT). Atherosclerosis vol. 269, 42-49.

Munroe PB, Jahangir SNS, Caulfield MJ(2018). Genetics and genomics of systemic hypertension. Cardiovascular Genetics and Genomics: Principles and Clinical Practice,

Bihlmeyer NA, Brody JA, Smith AV, Warren HR, Lin H, Isaacs A, Liu CT, Marten J et al.(2018). ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals. Circulation. Genomic and precision medicine vol. 11, (1)

Munroe PB, Warren HR(2018). Hypertension. Genomic and Precision Medicine: Cardiovascular Disease: Third Edition,

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)

Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T et al.(2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics vol. 50, (1) 26-35.

Ren M, Ng FL, Warren HR, Witkowska K, Baron M, Jia Z, Cabrera C, Zhang R et al.(2018). The biological impact of blood pressure-associated genetic variants in the natriuretic peptide receptor C gene on human vascular smooth muscle. Human Molecular Genetics vol. 27, (1) 199-210.

Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C et al.(2017). Exome-wide association study of plasma lipids in &gt;300,000 individuals. Nature Genetics vol. 49, (12) 1758-1766.

Warren H, Sun F, Stewart J, Broer L, Trompet S, Clarke H, Sitlani C, Noordam R et al. (2017). Large-scale genome-wide pharmacogenetic meta-analysis of blood pressure response to antihypertensive drugs. vol. 31, is. 10, pp. 659-659.

Kraja AT, Cook JP, Warren HR, Surendran P, Liu C, Evangelou E, Manning AK, Grarup N et al.(2017). New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals. Circulation: Cardiovascular Genetics vol. 10, (5)

Little L, Kraja AT, Cook JP, Warren HR, Newton-Cheh C, Munroe PB, Howson JMM, BP CE et al. (2017). New blood pressure associated loci identified in meta-analyses of 475,000 individuals using the Exome Chip. vol. 31, is. 10, pp. 665-666.

Warren HR, Evangelou E, Cabrera CP, Gao H, Ren M, Mifsud B, Ntalla I, Surendran P et al.(2017). Corrigendum: Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. Nat Genet vol. 49, (10) 1558-1558.

Orini M, Tinker A, Munroe PB, Lambiase PD(2017). Long-term intra-individual reproducibility of heart rate dynamics during exercise and recovery in the UK Biobank cohort. PLoS One vol. 12, (9) e0183732-e0183732.

Wain LV, Vaez A, Jansen R, Joehanes R, Van Der Most PJ, Erzurumluoglu AM, O'Reilly PF, Cabrera CP et al.(2017). Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets from Blood and the Kidney. Hypertension vol. 70, (3) e4-e19.

Munroe PB, Tinker A(2017). Heritability of resting heart rate and association with mortality in middle-aged and elderly twins. Heart vol. 104, (1) 6-7.

Dale CE, Fatemifar G, Palmer TM, White J, Prieto-Merino D, Zabaneh D, Engmann JEL, Shah T et al.(2017). Causal Associations of Adiposity and Body Fat Distribution with Coronary Heart Disease, Stroke Subtypes, and Type 2 Diabetes Mellitus: A Mendelian Randomization Analysis. Circulation vol. 135, (24) 2373-2388.

Rao DC, Sung YJ, Winkler TW, Schwander K, Borecki I, Adrienne Cupples L, James Gauderman W, Rice K et al.(2017). Multiancestry Study of Gene-Lifestyle Interactions for Cardiovascular Traits in 610 475 Individuals from 124 Cohorts: Design and Rationale. Circulation: Cardiovascular Genetics vol. 10, (3)

Wu Y-T, Luben R, Wareham N, Griffin S, Jones AP(2017). Weather, day length and physical activity in older adults: Cross-sectional results from the European Prospective Investigation into Cancer and Nutrition (EPIC) Norfolk Cohort. PLoS One vol. 12, (5) e0177767-e0177767.

Song C, Burgess S, Eicher JD, O'Donnell CJ, Johnson AD, Huang J, Sabater-Lleal M, Asselbergs FW et al.(2017). Causal effect of plasminogen activator inhibitor type 1 on coronary heart disease. Journal of the American Heart Association vol. 6, (6)

Cartwright J, Aziz Q, Harmer S, Tinker A, Munroe P (2017). Functional Studies of TRPM7-a Candidate Gene for Stillbirth?. FASEB JOURNAL. Conference: EB vol. 31,

Justice AE, Winkler TW, Feitosa MF, Graff M, Fisher VA, Young K, Barata L, Deng X et al.(2017). Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Nat Commun vol. 8, 14977-14977.

MUNROE PB, Caulfield M, Stirrups K, van den Berg M, Warren H, Cabrera CP(2017). Discovery of novel heart rate-associated loci using the exome chip. Human Molecular Genetics

Munroe PB, Warren HR(2017). Hypertension. Genomic and Precision Medicine: Primary Care: Third Edition,

McLaughlin RL, Schijven D, Van Rheenen W, Van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A et al.(2017). Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications vol. 8,

Warren HR, Evangelou E, Cabrera CP, Gao H, Ren M, Mifsud B, Ntalla I, Surendran P et al.(2017). Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. Nat Genet vol. 49, (3) 403-415.

Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y et al.(2017). Rare and low-frequency coding variants alter human adult height. Nature vol. 542, (7640) 186-190.

Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A et al.(2017). Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics vol. 49, (1) 27-35.

Noordam R, Sitlani CM, Avery CL, Stewart JD, Gogarten SM, Wiggins KL, Trompet S, Warren HR et al.(2016). A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. J Med Genet

Yaghootkar H, Bancks MP, Jones SE, McDaid A, Beaumont R, Donnelly L, Wood AR, Campbell A et al.(2016). Quantifying the extent to which index event biases influence large genetic association studies. Hum Mol Genet

Wang Y, Wu Z, Luo H, Peng J, Raelson J, Ehret GB, Munroe PB, Stoyanova E et al.(2016). The role of GRIP1 and ephrin B3 in blood pressure control and vascular smooth muscle cell contractility. Sci Rep vol. 6, 38976-38976.

Gregson JM, Freitag DF, Surendran P, Stitziel NO, Chowdhury R, Burgess S, Kaptoge S, Gao P et al.(2016). Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles. Eur J Prev Cardiol

Hayat SA, Luben R, Dalzell N, Moore S, Anuj S, Matthews FE, Wareham N, Brayne C et al.(2016). Cross Sectional Associations between Socio-Demographic Factors and Cognitive Performance in an Older British Population: The European Investigation of Cancer in Norfolk (EPIC-Norfolk) Study. PLoS One vol. 11, (12) Article 0166779, e0166779-e0166779.

Barban N, Jansen R, De Vlaming R, Vaez A, Mandemakers JJ, Tropf FC, Shen X, Wilson JF et al.(2016). Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nature Genetics vol. 48, (12) 1462-1472.

Eppinga RN, Hagemeijer Y, Burgess S, Hinds DA, Stefansson K, Gudbjartsson DF, van Veldhuisen DJ, Munroe PB et al.(2016). Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. Nat Genet vol. 48, (12) 1557-1563.

Hibar DP, Westlye LT, Van Erp TGM, Rasmussen J, Leonardo CD, Faskowitz J, Haukvik UK, Hartberg CB et al.(2016). Subcortical volumetric abnormalities in bipolar disorder. Molecular Psychiatry vol. 21, (12) 1710-1716.

Ried JS, Jeff M J, Chu AY, Bragg-Gresham JL, van Dongen J, Huffman JE, Ahluwalia TS, Cadby G et al.(2016). A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nature Communications vol. 7, 13357-13357.

Leng Y, Cappuccio FP, Surtees PG, Luben R, Brayne C, Khaw KT(2016). Daytime napping, sleep duration and increased 8-year risk of type 2 diabetes in a British population. Nutrition, Metabolism and Cardiovascular Diseases vol. 26, (11) 996-1003.

Warren HR, van den Berg ME, van der Harst P, Verweij N, Eijgelsheim M, Stricker BH, Munroe PB, Grp CHARGECEKGW (2016). Discovery of Novel Loci Associated with Heart Rate from Exome Chip Analysis. GENETIC EPIDEMIOLOGY. Conference: International Genetic Epidemiology Society vol. 40, 670-670.

Jepson RE, Warren HR, Syme HM, Elliott J, Munroe PB(2016). Uromodulin gene variants and their association with renal function and blood pressure in cats: a pilot study. J Small Anim Pract vol. 57, (11) 580-588.

Johnson EC, Bjelland DW, Howrigan DP, Abdellaoui A, Breen G, Borglum A, Cichon S, Degenhardt F et al.(2016). No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study. PLoS Genet vol. 12, (10) e1006343-e1006343.

Julian C, Lentjes MAH, Huybrechts I, Luben R, Wareham N, Moreno LA, Khaw K-T(2016). Fracture Risk in Relation to Serum 25-Hydroxyvitamin D and Physical Activity: Results from the EPIC-Norfolk Cohort Study. PLoS One vol. 11, (10) e0164160-e0164160.

Warren HR, Surendran P, Manning AK, van den Berg ME, van der Harst P, Verweij N, Eijgelsheim M, Stricker BHC et al.(2016). Novel loci discovery for blood pressure and heart rate using the Exome chip. JOURNAL OF HUMAN HYPERTENSION vol. 30, (10) 653-653.

van der Harst P, van Setten J, Verweij N, Vogler G, Franke L, Maurano MT, Wang X, Mateo Leach I et al.(2016). 52 Genetic Loci Influencing Myocardial Mass. J Am Coll Cardiol vol. 68, (13) 1435-1448.

MUNROE PB(2016). Fifty-two genetic loci influencing myocardial mass. Journal of the American College of Cardiology

MUNROE PB(2016). Trans-ancestry meta-analyses identify novel rare and common variants associated with blood pressure and hypertension. Nature Genetics

MUNROE PB(2016). The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nature Genetics

Postmus I, Warren HR, Trompet S, Arsenault BJ, Avery CL, Bis JC, Chasman DI, de Keyser CE et al.(2016). Meta-analysis of genome-wide association studies of HDL cholesterol response to statins. Journal of Medical Genetics

van der Laan SW, Fall T, Soumaré A, Teumer A, Sedaghat S, Baumert J, Zabaneh D, van Setten J et al.(2016). Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study. Journal of the American College of Cardiology vol. 68, (9) 934-945.

Pinnock C, Yip JLY, Khawaja AP, Luben R, Hayat S, Broadway DC, Foster PJ, Khaw K-T et al.(2016). Topical Beta-Blockers and Cardiovascular Mortality: Systematic Review and Meta-Analysis with Data from the EPIC-Norfolk Cohort Study. Ophthalmic Epidemiol vol. 23, (5) 277-284.

Basu N, Yang X, Luben RN, Whibley D, Macfarlane GJ, Wareham NJ, Khaw K-T, Myint PK(2016). Fatigue is associated with excess mortality in the general population: results from the EPIC-Norfolk study. BMC Med vol. 14, (1) 122-122.

Guo Y, Warren Andersen S, Shu X-O, Michailidou K, Bolla MK, Wang Q, Garcia-Closas M, Milne RL et al.(2016). Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent. PLoS Med vol. 13, (8) e1002105-e1002105.

Kwok CS, Loke YK, Welch AA, Luben RN, Lentjes MAH, Boekholdt SM, Pfister R, Mamas MA et al.(2016). Habitual chocolate consumption and the risk of incident heart failure among healthy men and women. Nutrition, Metabolism and Cardiovascular Diseases vol. 26, (8) 722-734.

Kanoni S, Masca NGD, Stirrups KE, Varga TV, Warren HR, Scott RA, Southam L, Zhang W et al.(2016). Analysis with the exome array identifies multiple new independent variants in lipid loci. Human Molecular Genetics vol. 25, (18) ddw227-ddw227.

Opstelten JL, Beelen RMJ, Leenders M, Hoek G, Brunekreef B, van Schaik FDM, Siersema PD, Eriksen KT et al.(2016). Exposure to Ambient Air Pollution and the Risk of Inflammatory Bowel Disease: A European Nested Case-Control Study. Dig Dis Sci vol. 61, (10) 2963-2971.

Leng Y, Wainwright NWJ, Cappuccio FP, Surtees PG, Hayat S, Luben R, Brayne C, Khaw K-T(2016). Daytime napping and increased risk of incident respiratory diseases: symptom, marker, or risk factor?. Sleep Med vol. 23, 12-15.

Prins BP, Abbasi A, Wong A, Vaez A, Nolte I, Franceschini N, Stuart PE, Guterriez Achury J et al.(2016). Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. PLOS Medicine vol. 13, (6) e1001976-e1001976.

Bearden CE, Zandi P, Freimer NB(2016). Molecular Architecture and Neurobiology of Bipolar Disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry,

Scott RA, Freitag DF, Li L, Chu AY, Surendran P, Young R, Grarup N, Stancakova A et al.(2016). A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. Science Translational Medicine vol. 8, (341) 341ra76-341ra76.

Lessard S, Manning AK, Low-Kam C, Auer PL, Giri A, Graff M, Schurmann C, Yaghootkar H et al.(2016). Testing the role of predicted gene knockouts in human anthropometric trait variation. Human Molecular Genetics vol. 25, (10) 2082-2092.

Bodea CA, Neale BM, Ripke S, Daly MJ, Devlin B, Roeder K(2016). A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies. American Journal of Human Genetics vol. 98, (5) 857-868.

Zhao Z, Wen W, Michailidou K, Bolla MK, Wang Q, Zhang B, Long J, Shu XO et al.(2016). Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry. Cancer Causes and Control vol. 27, (5) 679-693.

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Surtees PG, Wainwright NWJ, Pooley KA, Luben RN, Khaw KT, Easton DF, Dunning AM(2011). Life stress, emotional health, and mean telomere length in the European prospective investigation into cancer (EPIC)-Norfolk Population Study. Journals of Gerontology - Series A Biological Sciences and Medical Sciences vol. 66 A, (11) 1152-1162.

Kuhnle GGC, Ward HA, Vogiatzoglou A, Luben RN, Mulligan A, Wareham NJ, Forouhi NG, Khaw KT(2011). Association between dietary phyto-oestrogens and bone density in men and postmenopausal women. British Journal of Nutrition vol. 106, (7) 1063-1069.

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Key TJ, Appleby PN, Cairns BJ, Luben R, Dahm CC, Akbaraly T, Brunner EJ, Burley V et al.(2011). Dietary fat and breast cancer: Comparison of results from food diaries and food-frequency questionnaires in the UK Dietary Cohort Consortium. American Journal of Clinical Nutrition vol. 94, (4) 1043-1052.

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Foster PJ, Broadway DC, Garway-Heath DF, Yip JLY, Luben R, Hayat S, Dalzell N, Wareham NJ et al.(2011). Intraocular pressure and corneal biomechanics in an adult British population: The EPIC-Norfolk eye study. Investigative Ophthalmology and Visual Science vol. 52, (11) 8179-8185.

Gay LJ, Arends MJ, Mitrou PN, Bowman R, Ibrahim AE, Happerfield L, Luben R, McTaggart A et al.(2011). MLH1 promoter methylation, diet, and lifestyle factors in mismatch repair deficient colorectal cancer patients from EPIC-Norfolk. Nutrition and Cancer vol. 63, (7) 1000-1010.

Pfister R, Barnes D, Luben R, Forouhi NG, Bochud M, Khaw KT, Wareham NJ, Langenberg C(2011). No evidence for a causal link between uric acid and type 2 diabetes: A Mendelian randomisation approach. Diabetologia vol. 54, (10) 2561-2569.

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Yip JLY, Broadway DC, Luben R, Garway-Heath DF, Hayat S, Dalzell N, Lee PS, Bhaniani A et al.(2011). Physical activity and Ocular perfusion pressure: The EPIC-Norfolk eye study. Investigative Ophthalmology and Visual Science vol. 52, (11) 8186-8192.

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Chan SSM, Luben R, Bergmann MM, Boeing H, Olsen A, Tjonneland A, Overvad K, Kaaks R et al.(2011). Aspirin in the aetiology of Crohn's disease and ulcerative colitis: A European prospective cohort study. Alimentary Pharmacology and Therapeutics vol. 34, (6) 649-655.

Myint PK, Luben RN, Wareham NJ, Khaw KT(2011). Association between plasma vitamin C concentrations and blood pressure in the European prospective investigation into cancer-norfolk population-based study. Hypertension vol. 58, (3) 372-379.

Spencer EA, Key TJ, Appleby PN, Dahm CC, Keogh RH, Fentiman IS, Akbaraly T, Brunner EJ et al.(2011). Erratum: Meat, poultry and fish and risk of colorectal cancer: Pooled analysis of data from the UK dietary cohort consortium (Cancer Causes Control (2010) 21 (1417-1425)) DOI 10.1007/s10552-010-9569-7). Cancer Causes and Control vol. 22, (9)

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Pfister R, Barnes D, Luben RN, Khaw KT, Wareham NJ, Langenberg C(2011). Individual and cumulative effect of type 2 diabetes genetic susceptibility variants on risk of coronary heart disease. Diabetologia vol. 54, (9) 2283-2287.

Myint PK, Smith RD, Luben RN, Surtees PG, Wainwright NWJ, Wareham NJ, Khaw KT(2011). Lifestyle behaviours and quality-adjusted life years in middle and older age. Age and Ageing vol. 40, (5) 589-595.

Wegmann D, Kessner DE, Veeramah KR, Mathias RA, Nicolae DL, Yanek LR, Sun YV, Torgerson DG et al.(2011). Recombination rates in admixed individuals identified by ancestry-based inference. Nature Genetics vol. 43, (9) 847-853.

Ricketts SL, Rensing KL, Holly JM, Chen L, Young EH, Luben R, Ashford S, Song K et al.(2011). Prospective study of insulin-like growth factor-I, insulinlike growth factor-binding protein 3, genetic variants in the IGF1 and IGFBP3 genes and risk of coronary artery disease. International Journal of Molecular Epidemiology and Genetics vol. 2, (3) 261-285.

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Pfister R, Sharp SJ, Luben R, Khaw KT, Wareham NJ(2011). No evidence of an increased mortality risk associated with low levels of glycated haemoglobin in a non-diabetic UK population. Diabetologia vol. 54, (8) 2025-2032.

Pfister R, Sharp SJ, Luben R, Wareham NJ, Khaw KT(2011). Plasma vitamin C predicts incident heart failure in men and women in European Prospective Investigation into Cancer and Nutrition-Norfolk prospective study. American Heart Journal vol. 162, (2) 246-253.

Loh YH, Mitrou PN, Wood A, Luben RN, McTaggart A, Khaw KT, Rodwell SA(2011). SMAD7 and MGMT genotype variants and cancer incidence in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Norfolk Study. Cancer Epidemiology vol. 35, (4) 369-374.

Banim PJR, Luben RN, Bulluck H, Sharp SJ, Wareham NJ, Khaw KT, Hart AR(2011). The aetiology of symptomatic gallstones quantification of the effects of obesity, alcohol and serum lipids on risk. Epidemiological and biomarker data from a UK prospective cohort study (EPIC-Norfolk). European Journal of Gastroenterology and Hepatology vol. 23, (8) 733-740.

Desrivières S, Lourdusamy A, Müller C, Ducci F, Wong CP, Kaakinen M, Pouta A, Hartikainen AL et al.(2011). Glucocorticoid receptor (NR3C1) gene polymorphisms and onset of alcohol abuse in adolescents. Addiction Biology vol. 16, (3) 510-513.

Putku M, Kepp K, Org E, Sõber S, Comas D, Viigimaa M, Veldre G, Juhanson P et al.(2011). Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans. Hum Mutat vol. 32, (7) 806-814.

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Canoy D, Wareham N, Luben R, Welch A, Bingham S, Day N, Khaw KT(2006). Serum lipid concentration in relation to anthropometric indices of central and peripheral fat distribution in 20,021 British men and women: Results from the EPIC-Norfolk population-based cohort study. Atherosclerosis vol. 189, (2) 420-427.

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Jarvik LF, La Rue A, Gokhman I, Harrison T, Holt L, Steh B, Harker J, Larson S et al. (2005). Middle-aged children of Alzheimer parents, a pilot study: Stable neurocognitive performance at 20-year follow-up. Journal of Geriatric Psychiatry and Neurology. vol. 18, 187-191.

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

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Cebrian A, Lesueur F, Martin S, Leyland J, Ahmed S, Luccarini C, Smith PL, Luben R et al.(2005). Polymorphisms in the initiators of RET (Rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma. Journal of Clinical Endocrinology and Metabolism vol. 90, (11) 6268-6274.

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Hu SP, Day NE, Li DR, Luben RN, Cai KL, Ou-Yang T, Li B, Lu XZ et al.(2005). Further evidence for an HLA-related recessive mutation in nasopharyngeal carcinoma among the Chinese. British Journal of Cancer vol. 92, (5) 967-970.

De Castro F, Moron FJ, Montoro L, Galan JJ, Real LM, Ruiz A, Dunning AM, Dowsett M et al.(2005). Re: Polymorphisms associated with circulating sex hormone levels in postmenopausal women (multiple letters) [2]. Journal of the National Cancer Institute vol. 97, (2) 152-154.

Canoy D, Wareham N, Luben R, Welch A, Bingham S, Day N, Khaw KT(2005). Cigarette smoking and fat distribution in 21,828 british men and women: A population-based study. Obesity Research vol. 13, (8) 1466-1475.

Sinha S, Luben RN, Welch A, Bingham S, Wareham NJ, Day NE, Khaw KT(2005). Fibrinogen and cigarette smoking in men and women in the European Prospective Investigation into Cancer in Norfolk (EPIC-Norfolk) population. European Journal of Preventive Cardiology vol. 12, (2) 144-150.

Newhouse SJ, Huq SM, Arunachalam G, Caulfield MJ, Munroe PB(2005). Genetics of hypertension. Hypertension: Principles and Practice,

Low YL, Taylor JI, Grace PB, Dowsett M, Scollen S, Dunning AM, Mulligan AA, Welch AA et al.(2005). Phytoestrogen exposure correlation with plasma estradiol in postmenopausal women in European Prospective Investigation of Cancer and Nutrition-Norfolk may involve diet-gene interactions. Cancer Epidemiology Biomarkers and Prevention vol. 14, (1) 213-220.

Low YL, Taylor JI, Grace PB, Dowsett M, Folkerd E, Doody D, Dunning AM, Scollen S et al.(2005). Polymorphisms in the CYP19 gene may affect the positive correlations between serum and urine phytoestrogen metabolites and plasma androgen concentrations in men. Journal of Nutrition vol. 135, (11) 2680-2686.

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

Jakes RW, Day NE, Luben R, Welch A, Bingham S, Mitchell J, Hennings S, Rennie K et al.(2004). Adjusting for energy intake - What measure to use in nutritional epidemiological studies?. International Journal of Epidemiology vol. 33, (6) 1382-1386.

Day NE, Wong MY, Bingham S, Khaw KT, Luben R, Michels KB, Welch A, Wareham NJ(2004). Correlated measurement error - Implications for nutritional epidemiology. International Journal of Epidemiology vol. 33, (6) 1373-1381.

Pattison DJ, Symmons DPM, Lunt M, Welch A, Luben R, Bingham SA, Khaw KT, Day NE et al.(2004). Dietary risk factors for the development of inflammatory polyarthritis: Evidence for a role of high level of red meat consumption. Arthritis and Rheumatism vol. 50, (12) 3804-3812.

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

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

Shohaimi S, Bingham S, Welch A, Luben R, Day N, Wareham N, Khaw KT(2004). Occupational social class, educational level and area deprivation independently predict plasma ascorbic acid concentration: Across-sectional population based study in the Norfolk cohort of the European Prospective Investigation into Cancer (EPIC-Norfolk). European Journal of Clinical Nutrition vol. 58, (10) 1432-1435.

DiCioccio RA, Song H, Waterfall C, Kimura MT, Nagase H, McGuire V, Hogdall E, Shah MN et al.(2004). STK15 polymorphisms and association with risk of invasive ovarian cancer. Cancer Epidemiology Biomarkers and Prevention vol. 13, (10) 1589-1594.

Freimer N, Sabatti C(2004). The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nature Genetics vol. 36, (10) 1045-1051.

Khaw KT, Wareham N, Bingham S, Luben R, Welch A, Day N(2004). Association of hemoglobin A<inf>1c</inf> with cardiovascular disease and mortality in adults: The European prospective investigation into cancer in Norfolk. Annals of Internal Medicine vol. 141, (6)

Matthijs Boekholdt S, Peters RJG, Day NE, Luben R, Bingham SA, Wareham NJ, Hack CE, Reitsma PH et al.(2004). Macrophage migration inhibitory factor and the risk of myocardial infarction or death due to coronary artery disease in adults without prior myocardial infarction or stroke: The EPIC-Norfolk prospective population study. American Journal of Medicine vol. 117, (6) 390-397.

Boekholdt SM, Kuivenhoven JA, Wareham NJ, Peters RJG, Jukema JW, Luben R, Bingham SA, Day NE et al.(2004). Plasma levels of cholesteryl ester transfer protein and the risk of future coronary artery disease in apparently healthy men and women: The prospective EPIC (European Prospective Investigation into Cancer and nutrition)-Norfolk population study. Circulation vol. 110, (11) 1418-1423.

Burmana J, Trana CH, Glatt C, Freimer NB, Edwards RH(2004). The effect of rare human sequence variants on the function of vesicular monoamine transporter 2. Pharmacogenetics vol. 14, (9) 587-594.

Miettunen J, Kantojärvi L, Ekelund J, Veijola J, Karvonen JT, Peltonen L, Järvelin MR, Freimer N et al.(2004). A large population cohort provides normative data for investigation of temperament. Acta Psychiatrica Scandinavica vol. 110, (2) 150-157.

Patel BD, Luben RN, Welch AA, Bingham SA, Khaw KT, Day NE, Lomas DA, Wareham NJ(2004). Childhood smoking is an independent risk factor for obstructive airways disease in women. Thorax vol. 59, (8) 682-686.

Boekholdt SM, Peters RJG, Hack CE, Day NE, Luben R, Bingham SA, Wareham NJ, Reitsma PH et al.(2004). IL-8 plasma concentrations and the risk of future coronary artery disease in apparently healthy men and women: The EPIC-Norfolk prospective population study. Arteriosclerosis, Thrombosis, and Vascular Biology vol. 24, (8) 1503-1508.

Shohaimi S, Welch A, Bingham S, Luben R, Day N, Wareham N, Khaw KT(2004). Residential area deprivation predicts fruit and vegetable consumption independently of individual educational level and occupational social class: A cross sectional population study in the Norfolk cohort of the European Prospective Investigation into Cancer (EPIC-Norfolk). Journal of Epidemiology and Community Health vol. 58, (8) 686-691.

Mathews CA, Waller J, Glidden DV, Lowe TL, Herrera LD, Budman CL, Erenberg G, Naarden A et al.(2004). Self injurous behaviour in Tourette syndrome: Correlates with impulsivity and impulse control. Journal of Neurology, Neurosurgery and Psychiatry vol. 75, (8) 1149-1155.

Shohaimi S, Welch A, Bingham S, Luben R, Day N, Wareham N, Khaw KT(2004). Area deprivation predicts lung function independently of education and social class. European Respiratory Journal vol. 24, (1) 157-161.

Klomp LWJ, Vargas JC, Van Mil SWC, Pawlikowska L, Strautnieks SS, Van Eijk MJT, Juijn JA, Pabón-Peña C et al.(2004). Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology vol. 40, (1) 27-38.

Michels KB, Bingham SA, Luben R, Welch AA, Day NE(2004). The effect of correlated measurement error in multivariate models of diet. American Journal of Epidemiology vol. 160, (1) 59-67.

Pattison DJ, Silman AJ, Goodson NJ, Lunt M, Bunn D, Luben R, Welch A, Bingham S et al.(2004). Vitamin C and the risk of developing inflammatory polyarthritis: Prospective nested case-control study. Annals of the Rheumatic Diseases vol. 63, (7) 843-847.

Dunning AM, Dowsett M, Healey CS, Tee L, Luben RN, Folkerd E, Novik KL, Kelemen L et al.(2004). Polymorphisms associated with circulating sex hormone levels in postmenopausal women. Journal of the National Cancer Institute vol. 96, (12) 936-945.

Canoy D, Luben R, Welch A, Bingham S, Wareham N, Day N, Khaw KT(2004). Abdominal obesity and respiratory function in men and women in the EPIC-Norfolk study, United Kingdom. American Journal of Epidemiology vol. 159, (12) 1140-1149.

Rahman P, Jones A, Curtis J, Bartlett S, Peddle L, Fernandez BA, Freimer NB(2004). Erratum: The Newfoundland population: A unique resource for genetic investigation of complex diseases (Human Molecular Genetics (2003) vol. 12 (R167-R172)). Human Molecular Genetics vol. 13, (12)

Macleod J, Smith GD, Lynch J, Surtees P, Wainwright N, Luben R, Khaw KT, Day N(2004). Re: "Sense of coherence and mortality in men and women in the EPIC-Norfolk United Kingdom prospective cohort study" [2] (multiple letters). American Journal of Epidemiology vol. 159, (12) 1202-1204.

Tjønneland AM, Overvad K, Bingham SA, Day NE, Luben R, Ferrari P, Slimani N, Norat T et al.(2004). Dietary fibers protect against colorectal cancer among the participants in the European Prospective Investigation into Cancer and Nutrition (EPiC) study. Ugeskrift for Laeger vol. 166, (25) 2458-2460.

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.

Khaw KT, Wareham N, Bingham S, Luben R, Welch A, Day N(2004). Preliminary communication: Glycated hemoglobin, diabetes, and incident colorectal cancer in men and women: A prospective analysis from the European Prospective Investigation into Cancer-Norfolk Study. Cancer Epidemiology Biomarkers and Prevention vol. 13, (6) 915-919.

Goodson NJ, Silman AJ, Pattison DJ, Lunt M, Bunn D, Luben R, Day N, Khaw KT et al.(2004). Traditional cardiovascular risk factors measured prior to the onset of inflammatory polyarthritis. Rheumatology vol. 43, (6) 731-736.

Bearden CE, Reus VI, Freimer NB(2004). Why genetic investigation of psychiatric disorders is so difficult. Current Opinion in Genetics and Development vol. 14, (3) 280-286.

Grace PB, Taylor JI, Low YL, Luben RN, Mulligan AA, Botting NP, Dowsett M, Welch AA et al.(2004). Phytoestrogen concentrations in serum and spot urine as biomarkers for dietary phytoestrogen intake and their relation to breast cancer risk in European Prospective Investigation of Cancer and Nutrition-Norfolk. Cancer Epidemiology Biomarkers and Prevention vol. 13, (5) 698-708.

Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP et al.(2004). A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals pertubed bile salt homeostasis but no impairment in bile secretion. Human Molecular Genetics vol. 13, (8) 881-892.

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.

Mathews CA, Reus VI, Bejarano J, Escamilla MA, Fournier E, Herrera LD, Lowe TL, McInnes LA et al.(2004). Genetic studies of neuropsychiatric disorders in Costa Rica: A model for the use of isolated populations. Psychiatric Genetics vol. 14, (1) 13-23.

Hong KS, McInnes LA, Service SK, Song T, Lucas J, Silva S, Fournier E, León P et al.(2004). Genetic Mapping Using Haplotype and Model-Free Linkage Analysis Supports Previous Evidence for a Locus Predisposing to Severe Bipolar Disorder at 5q31-33. American Journal of Medical Genetics - Neuropsychiatric Genetics vol. 125 B, (1) 83-86.

Yuyun MF, Khaw KT, Luben R, Welch A, Bingham S, Day NE, Wareham NJ(2004). A Prospective Study of Microalbuminuria and Incident Coronary Heart Disease and Its Prognostic Significance in a British Population: The EPIC-Norfolk Study. American Journal of Epidemiology vol. 159, (3) 284-293.

Harding AH, Day NE, Khaw KT, Bingham SA, Luben RN, Welsh A, Wareham NJ(2004). Habitual fish consumption and glycated haemoglobin: The EPIC-Norfolk study. European Journal of Clinical Nutrition vol. 58, (2) 277-284.

Yuyun MF, Khaw KT, Luben R, Welch A, Bingham S, Day NE, Wareham NJ(2004). Microalbuminuria and stroke in a British population: The European Prospective Investigation into Cancer in Norfolk (EPIC-Norfolk) population study. Journal of Internal Medicine vol. 255, (2) 247-256.

Yuyun MF, Khaw KT, Luben R, Welch A, Bingham S, Day NE, Wareham NJ(2004). Microalbuminuria independently predicts all-cause and cardiovascular mortality in a British population: The European Prospective Investigation into Cancer in Norfolk (EPIC-Norfolk) population study. International Journal of Epidemiology vol. 33, (1) 189-198.

Khaw KT, Reeve J, Luben R, Bingham S, Welch A, Wareham N, Oakes S, Day N(2004). Prediction of total and hip fracture risk in men and women by quantitative ultrasound of the calcaneus: EPIC-Norfolk prospective population study. Lancet vol. 363, (9404) 197-202.

Mehan MR, Freimer NB, Ophoff RA(2004). A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. Human genomics vol. 1, (5) 335-344.

Khaw KT, Bingham S, Welch A, Luben R, O'Brien E, Wareham N, Day N(2004). Blood pressure and urinary sodium in men and women: the Norfolk Cohort of the European Prospective Investigation into Cancer (EPIC-Norfolk). The American journal of clinical nutrition vol. 80, (5) 1397-1403.

Harding AH, Day NE, Khaw KT, Bingham S, Luben R, Welsh A, Wareham NJ(2004). Dietary Fat and the Risk of Clinical Type 2 Diabetes: The European Prospective Investigation of Cancer-Norfolk Study. American Journal of Epidemiology vol. 159, (1) 73-82.

Canoy D, Luben R, Welch A, Bingham S, Wareham N, Day N, Khaw KT(2004). Fat distribution, body mass index and blood pressure in 22 090 men and women in the Norfolk cohort of the European Prospective Investigation into Cancer and Nutrition (EPIC-Norfolk) study. Journal of Hypertension vol. 22, (11) 2067-2074.

Yuyun MF, Khaw KT, Luben R, Welch A, Bingham S, Day NE, Wareham NJ(2004). Microalbuminuria, cardiovascular risk factors and cardiovascular morbidity in a British population: The EPIC-Norfolk Population-based Study. European Journal of Cardiovascular Prevention and Rehabilitation vol. 11, (3) 207-213.

Glatt CE, Tampilic M, Christie C, DeYoung J, Freimer NB(2004). Re-Screening Serotonin Receptors for Genetic Variants Identifies Population and Molecular Genetic Complexity. American Journal of Medical Genetics - Neuropsychiatric Genetics vol. 124 B, (1) 92-100.

Surtees P, Wainwright N, Luben R, Khaw KT, Day N(2003). Sense of Coherence and Mortality in Men and Women in the EPIC-Norfolk United Kingdom Prospective Cohort Study. American Journal of Epidemiology vol. 158, (12) 1202-1209.

Rahman P, Jones A, Curtis J, Bartlett S, Peddle L, Fernandez BA, Freimer NB(2003). The Newfoundland population: A unique resource for genetic investigation of complex diseases. Human Molecular Genetics vol. 12, (REV. ISS. 2)

Surtees P, Wainwright N, Khaw KT, Luben R, Brayne C, Day N(2003). Inflammatory dispositions: A population-based study of the association between hostility and peripheral leukocyte counts. Personality and Individual Differences vol. 35, (6) 1271-1284.

Bingham SA, Day NE, Luben R(2003). Erratum: Dietary fibre in food and protection against colorectal cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC): An observational study (Lancet (2003) 361 (1496-1501)). Lancet vol. 362, (9388)

Jakes RW, Day NE, Khaw KT, Luben R, Oakes S, Welch A, Bingham S, Wareham NJ(2003). Television viewing and low participation in vigorous recreation are independently associated with obesity and markers of cardiovascular disease risk: EPIC-Norfolk population-based study. European Journal of Clinical Nutrition vol. 57, (9) 1089-1096.

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.

Bingham SA, Luben R, Welch A, Wareham N, Khaw KT, Day N(2003). Are imprecise methods obscuring a relation between fat and breast cancer?. Lancet vol. 362, (9379) 212-214.

Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI, Craddock N, DePaulo JR et al.(2003). Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. American Journal of Human Genetics vol. 73, (1) 49-62.

Munroe PB, Editorial Board(2003). Hypercholesterolaemia and vascular function: is the p22phox gene the missing link?. Clin Sci (Lond) vol. 105, (1) 11-12.

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.

Sabatti C, Service S, Freimer N(2003). False discovery rate in linkage and association genome screens for complex disorders. Genetics vol. 164, (2) 829-833.

Dunning AM, Ellis PD, McBride S, Kirschenlohr HL, Healey CS, Kemp PR, Luben RN, Chang-Claude J et al.(2003). A transforming growth factorβ1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer. Cancer Research vol. 63, (10) 2610-2615.

Bingham SA, Day NE, Luben R, Ferrari P, Slimani N, Norat T, Clavel-Chapelon F, Kesse E et al.(2003). Dietary fibre in food and protection against colorectal cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC): An observational study. Lancet vol. 361, (9368) 1496-1501.

Service SK, Sandkuijl LA, Freimer NB(2003). Cost-effective designs for linkage disequilibrium mapping of complex traits. American Journal of Human Genetics vol. 72, (5) 1213-1220.

Carvajal-Carmona LG, Ophoff R, Service S, Hartiala J, Molina J, Leon P, Ospina J, Bedoya G et al.(2003). Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica. Human Genetics vol. 112, (5-6) 534-541.

Freimer N, Sabatti C(2003). The human phenome project. Nature Genetics vol. 34, (1) 15-21.

Surtees P, Wainwright N, Day N, Luben R, Brayne C, Khaw KT(2003). Association of depression with peripheral leukocyte counts in EPIC-Norfolk - Role of sex and cigarette smoking. Journal of Psychosomatic Research vol. 54, (4) 303-306.

Shohaimi S, Luben R, Wareham N, Day N, Bingham S, Welch A, Oakes S, Khaw KT(2003). Residential area deprivation predicts smoking habit independently of individual educational level and occupational social class. A cross sectional study in the Norfolk cohort of the European Investigation into Cancer (EPIC-Norfolk). Journal of Epidemiology and Community Health vol. 57, (4) 270-276.

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

Surtees P, Wainwright N, Day N, Brayne C, Luben R, Khaw KT(2003). Adverse experience in childhood as a developmental risk factor for altered immune status in adulthood. International Journal of Behavioral Medicine vol. 10, (3) 251-268.

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

Smith MR, Kinmonth AL, Luben RN, Bingham S, Day NE, Wareham NJ, Welch A, Khaw KT(2003). Smoking status and differential white cell count in men and women in the EPIC-Norfolk population. Atherosclerosis vol. 169, (2) 331-337.

Sieri S, Agudo A, Kesse E, Klipstein-Grobusch K, San-José B, Welch AA, Krogh V, Luben R et al.(2002). Patterns of alcohol consumption in 10 European countries participating in the European Prospective Investigation into Cancer and Nutrition (EPIC) project. Public Health Nutrition vol. 5, (6 B) 1287-1296.

Welch AA, Lund E, Amiano P, Dorronsoro M, Brustad M, Kumle M, Rodriguez M, Lasheras C et al.(2002). Variability of fish consumption within the 10 European countries participating in the European Investigation into Cancer and Nutrition (EPIC) study. Public Health Nutrition vol. 5, (6 B) 1273-1285.

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.

Merikangas KR, Chakravarti A, Moldin SO, Araj H, Blangero J, Burmeister M, Crabbe JC, Depaulo JR et al.(2002). Future of genetics of mood disorders research. Biological Psychiatry vol. 52, (6) 457-477.

Sandhu MS, Luben R, Day NE, Khaw KT(2002). Self-reported birth weight and subsequent risk of colorectal cancer. Cancer Epidemiology Biomarkers and Prevention vol. 11, (9) 935-938.

Escamilla MA, Batki S, Reus VI, Spesny M, Molina J, Service S, Vinogradov S, Neylan T et al.(2002). Comorbidity of bipolar disorder and substance abuse in Costa Rica: Pedigree- and population-based studies. Journal of Affective Disorders vol. 71, (1-3) 71-83.

Jakes RW, Day NE, Patel B, Khaw KT, Oakes S, Luben R, Welch A, Bingham S et al.(2002). Physical inactivity is associated with lower forced expiratory volume in 1 second: European prospective investigation into cancer-norfolk prospective population study. American Journal of Epidemiology vol. 156, (2) 139-147.

Glatt CE, Freimer NB(2002). Association analysis of candidate genes for neuropsychiatric disease: The perpetual campaign. Trends in Genetics vol. 18, (6) 307-312.

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.

Harding AH, Sargeant LA, Khaw KT, Welch A, Oakes S, Luben RN, Bingham S, Day NE et al.(2002). Cross-sectional association between total level and type of alcohol consumption and glycosylated haemoglobin level: The epic-norfolk study. European Journal of Clinical Nutrition vol. 56, (9) 882-890.

Mulligan AA, Luben RN, Welch AA, Bingham SA(2002). Daidzein and genistein intakes in England (the EPIC Norfolk cohort). IARC scientific publications vol. 156, 369-370.

Ophoff RA, Escamilla MA, Service SK, Spesny M, Meshi DB, Poon W, Molina J, Fournier E et al.(2002). Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate. American Journal of Human Genetics vol. 71, (3) 565-574.

Bingham SA, Luben R, Day NE, Riboli E, EPIC Working Group on Dietary Patterns(2002). Plant polysaccharides, meat and colorectal cancer. IARC scientific publications vol. 156, 349-352.

Luben R, Khaw KT, Welch A, Bingham S, Wareham N, Oakes S, Day NE(2002). Plasma vitamin C, cancer mortality and incidence in men and women: a prospective study. IARC scientific publications vol. 156, 117-118.

Couto E, Harrison DAH, Duffy SW, Myles J, Sala E, Warren RML, Day NE, Luben R et al.(2001). Estimation of disease progression parameters from case-control data: Application to mammographic patterns and breast cancer natural history. Journal of Epidemiology and Biostatistics vol. 6, (2) 235-242.

Titan SMO, Bingham S, Welch A, Luben R, Oakes S, Day N, Khaw KT(2001). Frequency of eating and concentrations of serum cholesterol in the Norfolk population of the European prospective investigation into cancer (EPIC-Norfolk): Cross sectional study. British Medical Journal vol. 323, (7324) 1286-1288.

Sandhu MS, Luben R, Khaw KT(2001). Self reported non-insulin dependent diabetes, family history, and risk of prevalent colorectal cancer: Population based, cross sectional study. Journal of Epidemiology and Community Health vol. 55, (11) 804-805.

McInnes LA, Service SK, Reus VI, Barnes G, Charlat O, Jawahar S, Lewitzky S, Yang Q et al.(2001). Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population. Proceedings of the National Academy of Sciences of the United States of America vol. 98, (20) 11485-11490.

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.

McKeown NM, Day NE, Welch AA, Runswick SA, Luben RN, Mulligan AA, McTaggart A, Bingham SA(2001). Use of biological markers to validate self-reported dietary intake in a random sample of the European Prospective Investigation into Cancer United Kingdom Norfolk cohort. American Journal of Clinical Nutrition vol. 74, (2) 188-196.

Sala E, Warren R, McCann J, Duffy S, Luben R, Day N(2001). Mammographic parenchymal patterns and breast cancer natural history: A case-control study. Acta Oncologica vol. 40, (4) 461-465.

Faham M, Baharloo S, Tomitaka S, Deyoung J, Freimer NB(2001). Mismatch repair detection (MRD): High-throughput scanning for DNA variations. Human Molecular Genetics vol. 10, (16) 1657-1664.

Sandhu MS, Luben R, Khaw KT(2001). Prevalence and family history of colorectal cancer: Implications for screening. Journal of Medical Screening vol. 8, (2) 69-72.

Sargeant LA, Khaw KT, Bingham S, Day NE, Luben RN, Oakes S, Welch A, Wareham NJ(2001). Fruit and vegetable intake and population glycosylated haemoglobin levels: The EPIC-Norfolk study. European Journal of Clinical Nutrition vol. 55, (5) 342-348.

Leung KY, Greene ND, Munroe PB, Mole SE(2001). Identification of a transactivation motif in the CLN3 protein. IUBMB Life vol. 51, (5) 295-298.

Glatt CE, DeYoung JA, Delgado S, Service SK, Giacomini KM, Edwards RH, Risch N, Freimer NB(2001). Screening a large reference sample to identify very low frequency sequence variants: Comparisons between two genes. Nature Genetics vol. 27, (4) 435-438.

Escamilla MA, McInnes LA, Service SK, Spesny M, Reus VI, Molina J, Gallegos A, Fournier E et al.(2001). Genome screening for linkage disequilibrium in a costa rican sample of patients with bipolar-I disorder: A follow-up study on chromosome 18. American Journal of Medical Genetics - Neuropsychiatric Genetics vol. 105, (2) 207-213.

Khaw KT, Bingham S, Welch A, Luben R, Wareham N, Oakes S, Day N(2001). Relation between plasma ascorbic acid and mortality in men and women in EPIC-Norfolk prospective study: A prospective population study. Lancet vol. 357, (9257) 657-663.

Service SK, Ophoff RA, Freimer NB(2001). The genome-wide distribution of background linkage disequilibrium in a population isolate. Human Molecular Genetics vol. 10, (5) 545-551.

Jakes RW, Khaw KT, Day NE, Bingham S, Welch A, Oakes S, Luben R, Dalzell N et al.(2001). Patterns of physical activity and ultrasound attenuation by heel bone among Norfolk cohort of European Prospective Investigation of Cancer (EPIC Norfolk): Population based study. British Medical Journal vol. 322, (7279) 140-143.

Khaw KT, Wareham N, Luben R, Bingham S, Oakes S, Welch A, Day N(2001). Glycated haemoglobin, diabetes, and mortality in men in Norfolk cohort of European Prospective Investigation of Cancer and Nutrition (EPIC-Norfolk). BMJ vol. 322, (7277)

Leung KY, Greene ND, Munroe PB, Mole SE(2001). Analysis of CLN3-protein interactions using the yeast two-hybrid system. Eur J Paediatr Neurol vol. 5 Suppl A, 89-93.

Sargeant LA, Khaw KT, Bingham S, Day NE, Luben RN, Oakes S, Welch A, Wareham NJ(2001). Cigarette smoking and glycaemia: The EPIC-Norfolk study. International Journal of Epidemiology vol. 30, (3) 547-554.

Mathews CA, Herrera Amighetti LD, Lowe TL, Van De Wetering BJM, Freimer NB, Reus VI(2001). Cultural influences on diagnosis and perception of Tourette syndrome in Costa Rica. Journal of the American Academy of Child and Adolescent Psychiatry vol. 40, (4) 456-463.

Welch AA, McTaggart A, Mulligan AA, Luben R, Walker N, Khaw KT, Day NE, Bingham SA(2001). DINER (Data Into Nutrients for Epidemiological Research) - A new data-entry program for nutritional analysis in the EPIC-Norfolk cohort and the 7-day diary method. Public Health Nutrition vol. 4, (6) 1253-1265.

Harding AH, Sargeant LA, Welch A, Oakes S, Luben RN, Bingham S, Day NE, Khaw KT et al.(2001). Fat consumption and HbA<inf>1c</inf> levels: The EPIC-norfolk study. Diabetes Care vol. 24, (11) 1911-1916.

Ophoff RA, De Young J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J et al.(2001). Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. American Journal of Human Genetics vol. 69, (2) 447-453.

Garner C, McInnes LA, Service SK, Spesny M, Fournier E, Leon P, Freimer NB(2001). Linkage analysis of a complex pedigree with severe bipolar disorder, using a Markov chain Monte Carlo method. American Journal of Human Genetics vol. 68, (4) 1061-1064.

Bingham SA, Welch AA, McTaggart A, Mulligan AA, Runswick SA, Luben R, Oakes S, Khaw KT et al.(2001). Nutritional methods in the European prospective investigation of cancer in Norfolk. Public Health Nutrition vol. 4, (3) 847-858.

Basham VM, Pharoah PDP, Healey CS, Luben RN, Day NE, Easton DF, Ponder BAJ, Dunning AM(2001). Polymorphisms in CYP1A1 and smoking: No association with breast cancer risk. Carcinogenesis vol. 22, (11) 1797-1800.

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.

Sala E, Warren R, McCann J, Duffy S, Luben R, Day N(2000). Smoking and high-risk mammographic parenchymal patterns: A case-control study. Breast Cancer Research vol. 2, (1) 59-63.

Healey CS, Dunning AM, Dawn Teare M, Chase D, Parker L, Burn J, Chang-Claude J, Mannermaa A et al.(2000). A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nature Genetics vol. 26, (3) 362-364.

Ospina-Duque J, Duque C, Carvajal-Carmona L, Ortiz-Barrientos D, Soto I, Pineda N, Cuartas M, Calle J et al.(2000). An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia. Neuroscience Letters vol. 292, (3) 199-202.

Eksandh L, Ponjavic V, Munroe PB, Eiberg H, Uvebrant P, Ehinger B, Mole SE, Andréasson S(2000). Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. Ophthalmic Genetics vol. 21, (2) 69-77.

Ospina-Duque J, Carvajal-Carmona L, Calle J, López C, Ochoa L, García J, Cuartas M, Ortiz-Barrientos D et al.(2000). A search for genetic loci involved in predisposition to bipolar mood disorder in the population of Antioquia, Colombia. American Journal of Medical Genetics - Neuropsychiatric Genetics vol. 96, (4)

Ospina-Duque J, Duque C, Carvajal-Carmona L, Cuartas M, Ortiz-Barrientos D, Soto I, Pineda N, Calle J et al.(2000). Lack of association between a serotonin transporter promoter polymorphism and BP1 in Antioquia, Colombia. American Journal of Medical Genetics - Neuropsychiatric Genetics vol. 96, (4) 490-491.

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

Escamilla M, DeMille MC, Benavides E, Roche E, Almasy L, Pittman S, Hauser J, Lew DF et al.(2000). A minimalist approach to gene mapping: Locating the gene for acheiropodia, by homozygosity analysis. American Journal of Human Genetics vol. 66, (6) 1995-2000.

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.

Baharloo S, Service SK, Risch N, Gitschier J, Freimer NB(2000). Familial aggregation of absolute pitch. American Journal of Human Genetics vol. 67, (3) 755-758.

Sala E, Warren R, Duffy S, Welch A, Luben R, Day N(2000). High risk mammographic parenchymal patterns and diet: A case-control study. British Journal of Cancer vol. 83, (1) 121-126.

Sala E, Warren R, McCann J, Duffy S, Luben R, Day N(2000). High-risk mammographic parenchymal patterns, hormone replacement therapy and other risk factors: A case-control study. International Journal of Epidemiology vol. 29, (4) 629-636.

Alsanea O, Wada N, Ain K, Wong M, Taylor K, Ituarte PHG, Treseler PA, Weier HU et al.(2000). Is familial non-medullary thyroid carcinoma more aggressive than sporadic thyroid cancer? A multicenter series. Surgery vol. 128, (6) 1043-1051.

Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, Van der Hagen CB, Eiklid K, Aagenaes Ø et al.(2000). Mapping of the locus for cholestasis-lymphedema syndrome (aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. American Journal of Human Genetics vol. 67, (4) 994-999.

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.

Healey CS, Dunning AM, Durocher F, Teare D, Pharoah PDP, Luben RN, Easton DF, Ponder BAJ(2000). Polymorphisms in the human aromatase cytochrome P450 gene (CYP19) and breast cancer risk. Carcinogenesis vol. 21, (2) 189-193.

Sala E, Solomon L, Warren R, McCann J, Duffy S, Luben R, Day N(2000). Size, node status and grade of breast tumours: Association with mammographic parenchymal patterns. European Radiology vol. 10, (1) 157-161.

Fraser GE, Welch A, Luben R, Bingham SA, Day NE(2000). The effect of age, sex, and education on food consumption of a middle- aged English cohort - EPIC in East Anglia. Preventive Medicine vol. 30, (1) 26-34.

Dunning AM, Durocher F, Healey CS, Teare MD, McBride SE, Carlomagno F, Xu CF, Dawson E et al.(2000). The extent of linkage disequilibrium in four populations with distinct demographic histories. American Journal of Human Genetics vol. 67, (6) 1544-1554.

Sargeant LA, Wareham NJ, Bingham S, Day NE, Luben RN, Oakes S, Welch A, Khaw KT(2000). Vitamin C and hyperglycemia in the European Prospective Investigation Into Cancer - Norfolk (EPIC-Norfolk) study. Diabetes Care vol. 23, (6) 726-732.

Dunning AM, McBride S, Gregory J, Durocher F, Foster NA, Healey CS, Smith N, Pharoah PDP et al.(1999). No association between androgen or vitamin D receptor gene polymorphisms and risk of breast cancer. Carcinogenesis vol. 20, (11) 2131-2135.

Mole SE, Mitchison HM, Munroe PB(1999). Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5. Human Mutation vol. 14, (3) 199-215.

Bull LN, Pabón-Peña CR, Freimer NB(1999). Compound microsatellite repeats: Practical and theoretical features. Genome Research vol. 9, (9) 830-838.

Day N, Oakes S, Luben R, Khaw KT, Bingham S, Welch A, Wareham N (1999). EPIC-Norfolk: Study design and characteristics of the cohort. British Journal of Cancer. vol. 80, 95-103.

Lauronen L, Munroe PB, Järvelä I, Autti T, Mitchison HM, O'Rawe AM, Gardiner RM, Mole SE et al.(1999). Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. Neurology vol. 52, (2) 360-365.

Escamilla MA, McInnes LA, Spesny M, Reus VI, Service SK, Shimayoshi N, Tyler DJ, Silva S et al.(1999). Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: An initial screen for bipolar disorder loci on chromosome 18. American Journal of Human Genetics vol. 64, (6) 1670-1678.

Bull LN, Juijn JA, Liao M, Van Eijk MJT, Sinke RJ, Stricker NL, DeYoung JA, Carlton VEH et al.(1999). Erratum: Fine-resolution mapping by haplotype evaluation: The examples of PFIC1 and BRIC (Human Genetics (1999) 104 (241-248)). Human Genetics vol. 104, (6)

Bull LN, Juijn JA, Liao M, Van Eijk MJT, Sinke RJ, Stricker NL, DeYoung JA, Carlton VEH et al.(1999). Fine-resolution mapping by haplotype evaluation: The examples of PFIC1 and BRIC. Human Genetics vol. 104, (3) 241-248.

Sala E, Warren R, McCann J, Duffy S, Luben R, Day N(1999). High risk mammographic parenchymal patterns and anthropometric measures: A case-control study. British Journal of Cancer vol. 81, (7) 1257-1261.

Service SK, Lang DWT, Freimer NB, Sandkuijl LA(1999). Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations. American Journal of Human Genetics vol. 64, (6) 1728-1738.

Munroe PB, Olgunturk RO, Fryns JP, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner RM, Chung E(1999). Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nature Genetics vol. 21, (1) 142-144.

Stephenson JBP, Greene NDE, Leung KY, Munroe PB, Mole SE, Gardiner RM, Taschner PEM, O'Regan M et al. (1999). The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. Molecular Genetics and Metabolism. vol. 66, 245-247.

Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K et al.(1998). A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nature Genetics vol. 20, (3) 233-238.

Munroe PB, Greene NDE, Leung KY, Mole SE, Gardiner RM, Mitchison HM, Stephenson JBP, Crow YJ(1998). Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland [4]. Journal of Medical Genetics vol. 35, (9)

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.

Knowles JA, Fyer AJ, Vieland VJ, Weissman MM, Hodge SE, Heiman GA, Haghighi F, De Jesus GM et al.(1998). Results of a genome-wide genetic screen for panic disorder. American Journal of Medical Genetics - Neuropsychiatric Genetics vol. 81, (2) 139-147.

Bull LN, Van Eijk MJT, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LWJ, Lomri N et al.(1998). A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nature Genetics vol. 18, (3) 219-224.

Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Lake BD, Crow YJ, Stephenson JBP, Williams RE et al.(1998). Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Human Molecular Genetics vol. 7, (2) 291-297.

Baharloo S, Johnston PA, Service SK, Gitschier J, Freimer NB(1998). Absolute pitch: An approach for identification of genetic and nongenetic components. American Journal of Human Genetics vol. 62, (2) 224-231.

Wolkoff AW, Suchy FJ, Moseley RH, Meier PJ, Gollan JL, Freimer N, Fitz JG, Boyer JL et al. (1998). Advances in hepatic transport: Molecular mechanisms, genetic disorders, and treatment. A summary of the 1998 AASLD single topic conference. Hepatology. vol. 28, 1713-1719.

Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Lake BD, Crow YJ, Stephenson JBP, Williams RE et al.(1998). Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297)). Human Molecular Genetics vol. 7, (4)

Knisely AS, Freimer NB(1998). Insight into bile duct differentiation takes (notched) wings. Hepatology (Baltimore, Md.) vol. 27, (1) 298-299.

Sala E, Warren R, McCann J, Duffy S, Day N, Luben R(1998). Mammographic parenchymal patterns and mode of detection: Implications for the breast screening programme. Journal of Medical Screening vol. 5, (4) 207-212.

McInnes LA, Reus VI, Freimer NB(1998). Mapping genes for psychiatric disorders and behavioral traits. Current Opinion in Genetics and Development vol. 8, (3) 287-292.

Bull LN, Freimer NB, Balistreri WF, O'Connell N, Setchell KDR, Kocoshis SA, Putnam PE, Agostini RM et al.(1997). A non-Amish infant with true Byler disease. Pediatric Pathology and Laboratory Medicine vol. 17, (3) 522-523.

Sinke RJ, Carlton VEH, Juijn JA, Delhaas T, Bull L, Van Berge Henegouwen GP, Van Hattum J, Keller KM et al.(1997). Benign recurrent intrahepatic cholestasis (BRIC): Evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. Human Genetics vol. 100, (3-4) 382-387.

Mitchison HM, Munroe PB, O'Rawe AM, Taschner PEM, De Vos N, Kremmidiotis G, Lensink I, Munk AC et al.(1997). Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics vol. 40, (2) 346-350.

Freimer NB, Service SK, Slatkin M(1997). Expanding on population studies. Nature Genetics vol. 17, (4) 371-373.

Bull LN, Carlton VEH, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E et al.(1997). Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): Evidence for heterogeneity. Hepatology vol. 26, (1) 155-164.

Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM et al.(1997). Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. American Journal of Human Genetics vol. 61, (3) 630-633.

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.

Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PEM, De Vos N et al.(1997). Spectrum of mutations in the Batten disease gene, CLN3. American Journal of Human Genetics vol. 61, (2) 310-316.

Munroe PB, O'Rawe AM, Mitchison HM, Järvelä IE, Santavuori P, Lerner TJ, Taschner PEM, Gardiner RM et al.(1997). Strategy for mutation detection in CLN3: Characterisation of two Finnish mutations. Neuropediatrics vol. 28, (1) 15-17.

Mitchison HM, Taschner PEM, Kremmidiotis C, Callen DF, Doggett NA, Lerner TJ, Janes RB, Wallace BA et al.(1997). Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. Neuropediatrics vol. 28, (1) 12-14.

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.

Reus VI, Freimer NB(1997). Understanding the genetic basis of mood disorders: Where do we stand?. American Journal of Human Genetics vol. 60, (6) 1283-1288.

Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA(1996). A model for Batten disease protein CLN3: Functional implications from homology and mutations. FEBS Letters vol. 399, (1-2) 75-77.

Freimer NB, Slatkin M(1996). Microsatellites: Evolution and mutational processes. CIBA Foundation Symposia (197) 51-72.

Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC(1996). Rapid diagnostic test for the major mutation underlying Batten disease. Journal of Medical Genetics vol. 33, (12) 1041-1042.

McInnes LA, Escamilla MA, Service SK, Reus VI, Leon P, Silva S, Rojas E, Spesny M et al.(1996). A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. Proceedings of the National Academy of Sciences of the United States of America vol. 93, (23) 13060-13065.

Scanlon TJ, Luben R, Lyle P(1996). Comparing hypertension guidelines. BMJ vol. 313, (7066)

Scanlon TJ, Luben R, Lyle P(1996). Comparing hypertension guidelines. Guidelines are based on evidence from trials, not normal practice. BMJ (Clinical research ed.) vol. 313, (7066)

Freimer NB, Reus VI, Escamilla M, Spesny M, Smith L, Service S, Gallegos A, Meza L et al.(1996). An Approach to Investigating Linkage for Bipolar Disorder Using Large Costa Rican Pedigrees. American Journal of Medical Genetics - Seminars in Medical Genetics vol. 67, (3) 254-263.

Escamilla MA, Spesny M, Reus VI, Gallegos A, Meza L, Molina J, Sandkuijl LA, Fournier E et al.(1996). Use of Linkage Disequilibrium Approaches to Map Genes for Bipolar Disorder in the Costa Rican Population. American Journal of Medical Genetics - Seminars in Medical Genetics vol. 67, (3) 244-253.

Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Järvelä I(1996). Prenatal diagnosis of Batten's disease. Lancet vol. 347, (9007) 1014-1015.

Freimer NB, Reus VI, Escamilla MA, Alison McInnes L, Spesny M, Leon P, Service SK, Smith LB et al.(1996). Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nature Genetics vol. 12, (4) 436-441.

Crouau-Roy B, Service S, Slatkin M, Freimer N(1996). A fine-scale comparison of the human and chimpanzee genomes: Linkage, linkage disequilibrium and sequence analysis. Human Molecular Genetics vol. 5, (8) 1131-1137.

Di Rienzo A, Peterson AC, Freimer NB(1996). Amplification with arbitrary primers. Methods in molecular biology (Clifton, N.J.) vol. 54, 123-129.

Smith LB, Sapers B, Reus VI, Freimer NB(1996). Attitudes towards bipolar disorder and predictive genetic testing among patients and providers. Journal of Medical Genetics vol. 33, (7) 544-549.

Knisely AS, Kocoshis S, O'Connell N, Setchell KD, Bull LN, Freimer NB(1996). Deficiency of chenodeoxycholic acid in bile: Byler disease and byler syndrome. Journal of Pediatric Gastroenterology and Nutrition vol. 23, (3)

Garza JC, Freimer NB(1996). Homoplasy for size at microsatellite loci in humans and chimpanzees. Genome Research vol. 6, (3) 211-217.

Sela-Herman S, Bull L, Lomri N, Rahmaoui C, Luther T, Hammerman P, Genant J, Freimer N et al.(1996). In search of a gene for hereditary cholestasis. Biochemical and Molecular Medicine vol. 59, (2) 98-103.

Houwen RHJ, Sinke R, Juyn J, Freimer N, Berger R(1996). Mapping of the gene for bric and byler disease. Journal of Pediatric Gastroenterology and Nutrition vol. 22, (4)

Freimer NB, Blower S, Slatkin M(1996). Pathogens &amp; strain diversity: Is sex disruptive?. Nature Medicine vol. 2, (4) 401-403.

Munroe PB, Mitchison HM, Dooley TP, Gardiner RM, Mole SE (1995). Analysis of Batten disease candidate genes STP and STM. American Journal of Medical Genetics. vol. 57, 324-326.

Carlton VEH, Knisely AS, Freimer NB(1995). Mapping of a locus for progressive familial intrahepatic cholestasis (byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Human Molecular Genetics vol. 4, (6) 1049-1053.

Peterson AC, Di Rienzo A, Lehesjokl AE, De La Chaelle A, Slatkin M, Frelmer NB(1995). The distribution of linkage disequilibrium over anonymous genome regions. Human Molecular Genetics vol. 4, (5) 887-894.

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.

McInnes LA, Freimer NB(1995). Mapping genes for psychiatric disorders and behavioral traits. Current Opinion in Genetics and Development vol. 5, (3) 376-381.

Garza JC, Slatkin M, Freimer NB(1995). Microsatellite allele frequencies in humans and chimpanzees, with implications for constraints on allele size. Molecular Biology and Evolution vol. 12, (4) 594-603.

JäRvelä IE, Mitchison HM, O¿Rawe AM, Munroe PB, Taschner PEM, Devos N, Lerner TJ, D¿Arigo KL et al.(1995). YAC and cosmid contigs spanning the batten disease (CLN3) region at 16p12.1-p11.2. Genomics vol. 29, (2) 478-489.

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.

Di Rienzo A, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB(1994). Mutational processes of simple-sequence repeat loci in human populations. Proceedings of the National Academy of Sciences of the United States of America vol. 91, (8) 3166-3170.

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,

Houwen RHJ, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB(1994). Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis. Nature Genetics vol. 8, (4) 380-386.

Dooley TP, Probst P, Munroe PB, Mole SE, Liu Z, Doggett NA(1994). Genomic organization and DNA sequence of the human catecholamine-sulfating phenol sulfotransferase gene (STM). Biochemical and Biophysical Research Communications vol. 205, (2) 1325-1332.

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.

Dooley TP, Mitchison HM, Munroe PB, Probst P, Neal M, Siciliano MJ, Deng ZM, Doggett NA et al.(1994). Mapping of Two Phenol Sulfotransferase Genes, STP and STM, to 16p: Candidate Genes for Batten Disease. Biochemical and Biophysical Research Communications vol. 205, (1) 482-489.

Di Rienzo A, Peterson A, Das S, Freimer NB(1993). Genome mapping by arbitrary amplification of yeast artificial chromosomes. Mammalian Genome vol. 4, (7) 359-363.

Valdes AM, Slatkin M, Freimer NB(1993). Allele frequencies at microsatellite loci: The stepwise mutation model revisited. Genetics vol. 133, (3) 737-749.

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,

Bouloux PG, Kirk J, Munroe P, Duke V, Meindl A, Hilson A, Grant D, Carter N et al.(1993). Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. Clinical Genetics vol. 43, (4) 169-173.

Freimer NB, Sandkuijl LA, Blower SM(1993). Incorrect specification of marker allele frequencies: Effects on linkage analysis. American Journal of Human Genetics vol. 52, (6) 1102-1110.

Scanlon TJ, Luben RN, Scanlon FL, Singleton N(1993). Is Friday the 13th bad for your health?. British Medical Journal vol. 307, (6919) 1584-1586.

Consalez GG, Stayton CL, Freimer NB, Goonewardena P, Brown WT, Gilliam TC, Warren ST(1992). Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28. Genomics vol. 12, (4) 710-714.

Bouloux PMG, Munroe P, Kirk J, Besser GM(1992). Sex and smell - An enigma resolved. Journal of Endocrinology vol. 133, (3) 323-326.

Bouloux PMG, Hardelin JP, Munroe P, Kirk JMW, Legouis R, Levilliers J, Hazan J, Weissenbach J et al.(1991). A dinucleotide repeat polymorphism at the kallmann locus (Xp22.3). Nucleic Acids Research vol. 19, (19)

Kleyn PW, Brzustowicz LM, Wilhelmsen KA, Freimer NB, Miller JM, Munsat TL, Gilliam TC(1991). Spinal muscular atrophy is not the result of mutations at the beta–hexosaminidase or GM<inf>2</inf>–activator locus. Neurology vol. 41, (9) 1418-1422.

Gilliam TC, Freimer NB, Kaufmann CA, Powchik PP, Bassett AS, Bengtsson U, Wasmuth JJ(1989). Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia. Genomics vol. 5, (4) 940-944.

Freimer N, Lu F, Chen J(1989). Posttraumatic stress and conversion disorders in a Laotian Refugee veteran: Use of Amobarbital interviews. Journal of Nervous and Mental Disease vol. 177, (7) 432-433.