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Professor Alex Blakemore
Professor in Human Genomics

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Noseda, M., De Smith, AJ., Leia, T., Rao, PH., Paiva, MSA., Al-Beidh, F., et al. (2012) 'The Cdkn2a/2b Tumour Suppressor Locus is a Hot Spot for Genome Instability in Mouse Cardiac Progenitor Cells'. CIRCULATION, 126 (21). pp. S59 - S59. ISSN: 0009-7322

Journal article

Costelloe, SJ., El-Sayed Moustafa, JS., Drenos, F., Palmen, J., Qiao, L., Whiting, S., et al. (2012) 'Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits'. Circulation: Cardiovascular Genetics, 5 (5). pp. 555 - 560. ISSN: 1942-325X

Journal article

El-Sayed Moustafa, JS., Eleftherohorinou, H., De Smith, AJ., Andersson-Assarsson, JC., Couto Alves, A., Hadjigeorgiou, E., et al. (2012) 'Novel association approach for variable number tandem repeats (vntrs) identifies dock5 as a susceptibility gene for severe obesity'. Human Molecular Genetics, 21 (16). pp. 3727 - 3738. ISSN: 0964-6906

Journal article

Mul, JD., Begg, DP., Alsters, SIM., van Haaften, G., Duran, KJ., D'Alessio, DA., et al. (2012) 'Effect of Vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats'. American Journal of Physiology - Endocrinology and Metabolism, 303 (1). pp. E103 - E110. ISSN: 0193-1849

Journal article

Bradfield, JP., Taal, HR., Timpson, NJ., Scherag, A., Lecoeur, C., Warrington, NM., et al. (2012) 'A genome-wide association meta-analysis identifies new childhood obesity loci'. NATURE GENETICS, 44 (5). pp. 526. ISSN: 1061-4036 Open Access Link

Journal article

Rob Taal, H., St Pourcain, B., Thiering, E., Das, S., Mook-Kanamori, DO., Warrington, NM., et al. (2012) 'Common variants at 12q15 and 12q24 are associated with infant head circumference'. Nature Genetics, 44 (5). pp. 532 - 538. ISSN: 1061-4036

Journal article

Munro, J., Skrobot, O., Sanyoura, M., Kay, V., Susce, MT., Glaser, PEA., et al. (2012) 'Relaxin polymorphisms associated with metabolic disturbance in patients treated with antipsychotics'. Journal of Psychopharmacology, 26 (3). pp. 374 - 379. ISSN: 0269-8811

Journal article

Paternoster, L., Standl, M., Chen, C-M., Ramasamy, A., Bonnelykke, K., Duijts, L., et al. (2012) 'Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis'. Nature Genetics, 44 (2). pp. 187 - 192. ISSN: 1061-4036 Open Access Link

Journal article

Dorajoo, R., Blakemore, AIF., Sim, X., Ong, RTH., Ng, DPK., Seielstad, M., et al. (2012) 'Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations'. International Journal of Obesity, 36 (1). pp. 159 - 163. ISSN: 0307-0565

Journal article

Howitt, P., Darzi, A., Yang, GZ., Ashrafian, H., Atun, R., Barlow, J., et al. (2012) 'Technologies for global health'. The Lancet, 380 (9840). pp. 507 - 535. ISSN: 0140-6736

Journal article

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, RG., Kutalik, Z., et al. (2011) 'Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus'. Nature, 478 (7367). pp. 97 - 102. ISSN: 0028-0836

Journal article

Strawbridge, RJ., Dupuis, J., Prokopenko, I., Barker, A., Ahlqvist, E., Rybin, D., et al. (2011) 'Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes'. Diabetes, 60 (10). pp. 2624 - 2634. ISSN: 0012-1797

Journal article

Li, Y., Zheng, H., Luo, R., Wu, H., Zhu, H., Li, R., et al. (2011) 'Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly'. Nature Biotechnology, 29 (8). pp. 723 - 730. ISSN: 1087-0156

Journal article

Trewick, AL., El-Sayed Moustafa, JS., De Smith, AJ., Froguel, P., Greve, G., Njølstad, PR., et al. (2011) 'Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry'. Clinical Chemistry, 57 (8). pp. 1188 - 1195. ISSN: 0009-9147

Journal article

Eleftherohorinou, H., Andersson-Assarsson, JC., Walters, RG., El-Sayed Moustafa, JS., Coin, L., Jacobson, P., et al. (2011) 'famCNV: Copy number variant association for quantitative traits in families'. Bioinformatics, 27 (13). pp. 1873 - 1875. ISSN: 1367-4803

Journal article

Fernando, MMA., de Smith, AJ., Coin, L., Morris, DL., Froguel, P., Mangion, J., et al. (2011) 'Investigation of the HIN200 Locus in UK SLE Families Identifies Novel Copy Number Variants'. Annals of Human Genetics, 75 (3). pp. 383 - 397. ISSN: 0003-4800

Journal article

de Smith, AJ., van Haelst, MM., Ellis, RJ., Holder, SE., Payne, SJ., Hashim, SK., et al. (2011) 'Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems'. American Journal of Medical Genetics, Part A, 155 (5). pp. 1192 - 1195. ISSN: 1552-4825

Journal article

Buxton, JL., Walters, RG., Visvikis-Siest, S., Meyre, D., Froguel, P. and Blakemore, AIF. (2011) 'Childhood obesity is associated with shorter leukocyte telomere length'. Journal of Clinical Endocrinology and Metabolism, 96 (5). pp. 1500 - 1505. ISSN: 0021-972X

Journal article

Speliotes, EK., Yerges-Armstrong, LM., Wu, J., Hernaez, R., Kim, LJ., Palmer, CD., et al. (2011) 'Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits'. PLoS Genetics, 7 (3). pp. e1001324 - e1001324. ISSN: 1553-7404

Journal article

de Smith, AJ., Trewick, AL. and Blakemore, AIF. (2010) 'Implications of copy number variation in people with chromosomal abnormalities: Potential for greater variation in copy number state may contribute to variability of phenotype'. HUGO Journal, 4 (1-4). pp. 1 - 9. ISSN: 1877-6558

Journal article

Speliotes, EK., Willer, CJ., Berndt, SI., Monda, KL., Thorleifsson, G., Jackson, AU., et al. (2010) 'Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index'. NATURE GENETICS, 42 (11). pp. 937 - U53. ISSN: 1061-4036 Open Access Link

Journal article

Price, CL., Al Hassi, HOS., English, NR., Blakemore, AIF., Stagg, AJ. and Knight, SC. (2010) 'Methylglyoxal modulates immune responses: relevance to diabetes'. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 14 (6B). pp. 1806 - 1815. ISSN: 1582-4934 Open Access Link

Journal article

Su, SY., Asher, JE., Jarvelin, MR., Froguel, P., Blakemore, AIF., Balding, DJ. and et al. (2010) 'Inferring combined CNV/SNP haplotypes from genotype data'. Bioinformatics, 26 (11). pp. 1437 - 1445. ISSN: 1367-4803

Journal article

Walters, RG., Jacquemont, S., Valsesia, A., de Smith, AJ., Martinet, D., Andersson, J., et al. (2010) 'A new highly penetrant form of obesity due to deletions on chromosome 16p11.2'. NATURE, 463 (7281). pp. 671 - U104. ISSN: 0028-0836 Open Access Link

Journal article

Fu, Y., Chen, Z., Blakemore, AIF., Orwoll, E. and Cohen, DM. (2010) 'Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations'. Physiological Genomics, 40 (3). pp. 121 - 127. ISSN: 1094-8341

Journal article

Coin, LJM., Asher, JE., Walters, RG., El-Sayed Moustafa, JS., De Smith, AJ., Sladek, R., et al. (2010) 'CnvHap: An integrative population and haplotype-based multiplatform model of SNPs and CNVs'. Nature Methods, 7 (7). pp. 541 - 546. ISSN: 1548-7091

Journal article

Blakemore, AIF. and Froguel, P. (2010) 'Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine', in Casanova, JL., Abel, L. and Lyonnet, S. (eds.) YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS. Wiley. , 1214. pp. 180 - 189. ISBN 13: 978-1-57331-789-4.

Book chapter

Blakemore, A. and Froguel, P. (2009) 'Obesity: Are genes responsible?'. Diabetes and Primary Care, 11 (5). pp. 270. ISSN: 1466-8955

Journal article

Al-Janabi, I., Arranz, MJ., Blakemore, AIF., Saiz, PA., Susce, MT., Glaser, PEA., et al. (2009) 'Association study of serotonergic gene variants with antipsychotic-induced adverse reactions'. Psychiatric Genetics, 19 (6). pp. 305 - 311. ISSN: 0955-8829

Journal article

Clark, D., Skrobot, OA., Adebiyi, I., Susce, MT., de Leon, J., Blakemore, AF. and et al. (2009) 'Apolipoprotein-E gene variants associated with cardiovascular risk factors in antipsychotic recipients'. European Psychiatry, 24 (7). pp. 456 - 463. ISSN: 0924-9338

Journal article

de Smith, AJ., Purmann, C., Walters, RG., Ellis, RJ., Holder, SE., van Haelst, MM., et al. (2009) 'Elucidating the aetiology of Prader-Willi syndrome: deletion of the HBII-85 class of snoRNA is associated with hyperphagia, obesity and hypogonadism'.British Human Genetics Conference. Univ Warwick, York, ENGLAND. 1 - 2 September. B M J PUBLISHING GROUP. pp. S83 - S83. ISSN: 0022-2593

Conference paper

Trewick, AL., Froguel, P., Coin, LJM. and Blakemore, AIF. (2009) 'Assignment of trisomic genotypes using the Sequenom iPLEX MALDI TOF assay reveals transmission disequilibrium of two SNP loci in the Type VI Collagen gene cluster associated with CHD in Down's Syndrome.'.British Human Genetics Conference. Univ Warwick, York, ENGLAND. 1 - 2 September. B M J PUBLISHING GROUP. pp. S92 - S92. ISSN: 0022-2593

Conference paper

de Smith, AJ., Purmann, C., Walters, RG., Ellis, RJ., Holder, SE., Van Haelst, MM., et al. (2009) 'A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism'. Human Molecular Genetics, 18 (17). pp. 3257 - 3265. ISSN: 0964-6906

Journal article

Blakemore, AIF., Meyre, D., Delplanque, J., Vatin, V., Lecoeur, C., Marre, M., et al. (2009) 'A rare variant in the visfatin gene (nampt/pbef1) is associated with protection from obesity'. Obesity, 17 (8). pp. 1549 - 1553. ISSN: 1930-7381

Journal article

Diskin, SJ., Hou, C., Glessner, JT., Attiyeh, EF., Laudenslager, M., Bosse, K., et al. (2009) 'Copy number variation at 1q21.1 associated with neuroblastoma'. Nature, 459 (7249). pp. 987 - 991. ISSN: 0028-0836

Journal article

Cauchi, S., Stutzmann, F., Cavalcanti-Proença, C., Durand, E., Pouta, A., Hartikainen, AL., et al. (2009) 'Combined effects of MC4R and FTO common genetic variants on obesity in European general populations'. Journal of Molecular Medicine, 87 (5). pp. 537 - 546. ISSN: 0946-2716

Journal article

De Smith, AJ., Walters, RG., Froguel, P. and Blakemore, AI. (2009) 'Human genes involved in copy number variation: Mechanisms of origin, functional effects and implications for disease'. Cytogenetic and Genome Research, 123 (1-4). pp. 17 - 26. ISSN: 1424-8581

Journal article

Meyre, D., Delplanque, J., Chèvre, JC., Lecoeur, C., Lobbens, S., Gallina, S., et al. (2009) 'Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations'. Nature Genetics, 41 (2). pp. 157 - 159. ISSN: 1061-4036

Journal article

Bouatia-Naji, N., Bonnefond, A., Cavalcanti-Proença, C., Sparsø, T., Holmkvist, J., Marchand, M., et al. (2009) 'A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk'. Nature Genetics, 41 (1). pp. 89 - 94. ISSN: 1061-4036

Journal article

Froguel, P. and Blakemore, AIF. (2008) 'The power of the extreme in elucidating obesity'. New England Journal of Medicine, 359 (9). pp. 891 - 893. ISSN: 0028-4793

Journal article

Blakemore, AIF. and Froguel, P. (2008) 'Is obesity our genetic legacy?'. Journal of Clinical Endocrinology and Metabolism, 93 (11 SUPPL. 1). pp. s51 - s56. ISSN: 0021-972X

Journal article

de Smith, AJ., Tsalenko, A., Sampas, N., Scheffer, A., Yamada, NA., Tsang, P., et al. (2007) 'Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases'. Human Molecular Genetics, 16 (23). pp. 2783 - 2794. ISSN: 0964-6906

Journal article

Fanciulli, M., Norsworthy, PJ., Petretto, E., Dong, R., Harper, L., Kamesh, L., et al. (2007) 'FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity'. Nature Genetics, 39 (6). pp. 721 - 723. ISSN: 1061-4036

Journal article

Fairbrother, UL., Tankó, LB., Walley, AJ., Christiansen, C., Froguel, P. and Blakemore, AIF. (2007) 'Leptin receptor genotype at Gln223Arg is associated with body composition, BMD, and vertebral fracture in postmenopausal Danish women'. Journal of Bone and Mineral Research, 22 (4). pp. 544 - 550. ISSN: 0884-0431

Journal article

Walley, AJ., Blakemore, AIF. and Froguel, P. (2006) 'Genetics of obesity and the prediction of risk for health'. Human Molecular Genetics, 15 (SUPPL. 2). pp. R124 - R130. ISSN: 0964-6906

Journal article

Salah Khalil, M., El Nahas, AM. and Blakemore, AIF. (2005) 'Transforming growth factor-β1 SNPs: Genetic and phenotypic correlations in progressive kidney insufficiency'. Nephron - Experimental Nephrology, 101 (2). pp. e31 - e41. ISSN: 1660-2129

Journal article

Linjawi, S., Li, TC., Laird, S. and Blakemore, A. (2005) 'Interleukin-1 receptor antagonist and interleukin-1 beta polymorphisms in women with recurrent miscarriage'. Fertility and Sterility, 83 (5). pp. 1549 - 1552. ISSN: 0015-0282

Journal article

Linjawi, S., Li, TC., Tuckerman, EM., Blakemore, AIF. and Laird, SM. (2004) 'Expression of interleukin-11 receptor α and interleukin-11 protein in the endometrium of normal fertile women and women with recurrent miscarriage'. Journal of Reproductive Immunology, 64 (1-2). pp. 145 - 155. ISSN: 0165-0378

Journal article

Quinton, ND., Meechan, DW., Brown, K., Eastwood, H. and Blakemore, AIF. (2004) 'Single nucleotide polymorphisms in the leptin receptor gene: studies in anorexia nervosa'. Psychiatric Genetics, 14 (4). pp. 191 - 194. ISSN: 0955-8829

Journal article

Capper, ER., Maskill, JK., Gordon, C. and Blakemore, AIF. (2004) 'Interleukin (IL)-10, IL-1ra and IL-12 profiles in active and quiescent systemic lupus erythematosus: Could longitudinal studies reveal patient subgroups of differing pathology?'. Clinical and Experimental Immunology, 138 (2). pp. 348 - 356. ISSN: 0009-9104

Journal article

Quinton, ND., Laird, SM., Tuckerman, EM., Cork, BA., Li, TC. and Blakemore, AIF. (2003) 'Expression of leptin receptor isoforms in vitro: Lack of effects of leptin on endometrial cytokine and MMP production'. American Journal of Reproductive Immunology, 50 (3). pp. 224 - 231. ISSN: 8755-8920

Journal article

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