Genotyping Service - Publications

Blakey J.D., Sayers I., Ring S.M., Strachan D.P., Hall I.P., 2009. Positionally cloned Asthma susceptibility gene polymorphisms and disease risk in the British 1958 Birth Cohort. Thorax, 64 (5), pp.381-7.

Duroudier N., Strachan D., Blakey J., Hall I., 2009. Association of the cysteinyl leukotriene receptor 1 gene with atopy in the British 1958 birth cohort. Journal of Allergy and Clinical Immunology, 124 (3), pp.566-572.

Hardy R., Wills A.K., Wong A., Elks C.E., Wareham N.J., Loos R.J.F., Kuh D., Ong K.K., 2009. Life course variations in the associations between FTO and MC4R gene variants and body size. Human Molecular Genetics doi: 10.1093/hmg/ddp504.

Newhouse S., Farrall M., Wallace C., Hoti M., Burke B., Howard P., Onipinla A., Lee K., Shaw-Hawkins S., Dobson R., Brown M., Samani N.J., Dominiczak A.F., Connell J.M., Lathrop G.M., Kooner J., Chambers J., Elliott P., Clarke R., Collins R., Laan M., Org E., Juhanson P., Veldre G., Viigimaa M., Eyheramendy S., Cappuccio F.P., Ji C., Iacone R., Strazzullo P., Kumari M., Marmot M., Brunner E., Caulfield M., Munroe P.B., 2009. Polymorphisms in the WNK1 Gene Are Associated with Blood Pressure Variation and Urinary Potassium Excretion. PLoS ONE, 4 (4), e.5003.

Rubio-Cabezas O., Patch A., Minton J.A.L, S.E., Edghill E.L., Hussain K., Balafrej A., Asma Deeb, Charles R. Buchanan, Ian G. Jefferson, Angham Mutair, the Neonatal Diabetes International Collaborative Group, Andrew T. Hattersley, and Sian Ellard, 2009. Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families. Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2009-1137.

Belbin O., Beaumont H., Warden D., Smith A.D., Kalsheker N., Morgan K., 2008. PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer’s disease patients. Neurobiology of Aging, 30 (12), pp.1992-1999.

Chappell S., Daly L., Morgan K., Guetta-Baranes T., Baranes T.G., Roca J., Rabinovich R., Lotya J., Millar A.B., Donnelly S.C., Keatings V., MacNee W., Stolk J., Hiemstra P.S., Miniati M., Monti S., O'Connor C. M., Kalsheker N., 2008. Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD. European Respiratory Journal, 32, pp.931-937.

Dick K.J., Al-Mjeni R., Baskir W., Koul R., Simpson M.A., Patton M.A., Raeburn S., Crosby A.H., 2008. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology, 71, p.248-252.

K Zahka K., Kalidas K., Simpson M.A., Cross H., Keller B.B., Galambos C., Gurtz K., Patton M.A., Crosby A.H., 2008. Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. Heart, 94, pp.1326-1330.

Rice N., Patel B., Lang I., Kumari M., Frayling T., Murray A., Melzer D., 2008. Filaggrin gene mutations are associated with asthma and eczema in later life. Journal of Allergy and Clinical Immunology, 122(4), pp.834-836.

Suntharalingam J., Goldsmith K., van Marion V., Long L., Treacy C. M., Dudbridge F., Toshner M. R., Pepke-Zaba J., Eikenboom J. C. J., Morrell N. W., 2008. Fibrinogen A Thr312Ala polymorphism is associated with chronic thromboembolic pulmonary hypertension. European Respiratory Journal, 31(4), pp.736-741.

Belbin O., Dunn J.L., Ling Y., Morgan L., Chappell S., Beaumont H., Warden D., Smith D.A., Kalsheker N., Morgan K., 2007. Regulatory region single nucleotide polymorphisms of the apolipoprotein E gene and the rate of cognitive decline in Alzheimer's disease. Human Molecular Genetics, 16 (18), pp.2199-2208.

Chappell S., Daly L., Morgan K., Baranes T.G., Roca J., Rabinovich R., Millar A., Donnelly S.C., Keatings V., MacNee W., Stolk J., Hiemstra P.S., Miniati M., Monti S., O'Connor C. M., Kalsheker N., 2007. Variation in the tumour necrosis factor gene is not associated with susceptibility to COPD. European Respiratory Journal, 30, pp.810-812.

Chappell S., Daly L., Morgan K., Baranes T.G., Roca J., Rabinovich R., Millar A., Donnelly S.C., Keatings V., MacNee W., Stolk J., Hiemstra P., Miniati M., Monti S., O’Connor C.M., Kalsheker N., 2006. Cryptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease. Human Mutation, 27 (1), pp.103-109.

Crockford G.P., Linger R., Hockley S., Dudakia D., Johnson L., Huddart R., Tucker K., Friedlander M., Phillips K.A., Hogg D., Jewett M.A.S., Lohynska R., Daugaard G., Richard S., Chompret A., Bonaïti-Pellié C., Heidenreich A., Albers P., Olah E., Geczi L., Bodrogi I., Ormiston W.J., Daly P.A., Guilford P., Fosså S.D., Heimdal K., Tjulandin S.A., Liubchenko L., Stoll H., Weber W., Forman D., Oliver T., Einhorn L., McMaster M., Kramer J., Greene M.H., Weber B.L., Nathanson K.L., Cortessis V., Easton D.F., Bishop D.T., Stratton M.R., Rapley E.A., 2006. Genome-wide linkage screen for testicular germ cell tumour susceptibility loci. Human Molecular Genetics, 15 (3), pp.443-451.

Gooding C., Clark F., Wollerton M.C., Grellscheid S.N., Groom H., Smith C.W.J., 2006. A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones. Genome Biology, 7 (1), e.R1.

Hall I., Blakey J., Al Balushi K., Wheatley A., Sayers I., Pembrey M., Ring S., McArdle W., Strachan D., 2006. ß2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study. The Lancet, 368 (9537), pp.771-779.

Morgan N.V., Pasha S., Johnson C.A., Ainsworth J.R., Eady R.A.J., Dawood B., McKeown C., Trembath R.C., Wilde J., Watson S.P., Maher E.R., 2006. A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8). The American Journal of Human Genetics, 78, pp.160-166.

Pett M.R., Herdman M.T., Palmer R.D., Yeo G.S.H., Shivji M.K., Stanley M.A., Coleman N., 2006. Selection of cervical keratinocytes containing integrated HPV16 associates with episome loss and an endogenous antiviral response. Proceedings of the National Academy of Sciences, 103 (10), pp.3822-3827.

Smith U.M., Consugar M., Tee L.J., McKee B.M, Maina E.N., Whelan S., Morgan N.V., Goranson E., Gissen P., Lilliquist S., Aligianis I.A., Ward C.J., Pasha S., Punyashthiti R., Sharif S.M., Batman P.A., Bennett C.P., Woods C.G., McKeown C., Bucourt M., Miller C.A., Cox P., AlGazali L., Trembath R.C., Torres V.E., Attie-Bitach T., Kelly D.A., Maher E.R., Gattone II V.H., Harris P.C., Johnson C.A., 2006. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nature Genetics, 38, pp.191-196.

Woods C.G., Cox J., Springell K., Hampshire D.J., Mohamed M.D., McKibbin M., Stern R., Raymond F.L., Sandford R., Sharif S.M., Karbani G., Ahmed M., Bond J., Clayton D., Inglehearn C.F., 2006. Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease. The American Journal of Human Genetics, 78, pp.889-896.

Chappell S., Daly L., Morgan K., Baranes T.G., Roca J., Rabinovich R., Millar A., Donnelly S.C., Keatings V., MacNee W., Stolk J., Hiemstra P., Miniati M., Monti S., O’Connor C.M., Kalsheker N., 2005. Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease. Human Mutation, 27 (1) pp.103-109.

Crockford G.P., Linger R., Hockley S., Dudakia D., Johnson L., Huddart R., Tucker K., Friedlander M., Phillips K., Hogg D., Jewett M.A.S., Lohynska R., Daugaard G., Richard S., Chompret A., Bonaïti-Pellié C., Heidenreich A., Albers P., Olah E., Geczi L., Bodrogi I., Ormiston W.J., Daly P.A., Guilford P., Fosså S.D., Heimdal K., Tjulandin S.A., Liubchenko L., Stoll H., Weber W., Forman D., Oliver T., Einhorn L., McMaster M., Kramer J., Greene M.H., Weber B.L., Nathanson K.L., Cortessis V., Easton D.F., Bishop D.T., Stratton M.R., Rapley E.A., 2005. Genome-wide linkage screen for testicular germ cell tumour susceptibility locil. Molecular Genetics, 3 pp.443-451.

Davies W., Isles A., Smith R., Karunadasa D., Burrmann D., Humby T., Ojarikre O., Biggin C., Skuse D., Burgoyne P., Wilkinson L., 2005. Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice. Nature Genetics, 37, pp.625-629.

Del Giudice I., Osuji N., Dexter T., Matutes E., Brito-Babapulle V., Parry-Jones N., Catovsky D., 2005. B-Cell Prolymphocytic Leukemia (B-PLL) and Chronic Lymphocytic Leukemia (CLL) Express Distinct Genomic Profiles. Blood, 106, Abstract 4372.

Irving J.A.E., Bloodworth L., Bown N.P., Case M.C., Hogarth L.A., Hall A.G., 2005. Loss of Heterozygosity in Childhood Acute Lymphoblastic Leukemia Detected by Genome-Wide Microarray Single Nucleotide Polymorphism Analysis. Cancer Research 65 pp.3053-3058.

Sawczenko A., Azooz O., Paraszczuk J., Idestrom M., Croft N.M., Savage M.O., Ballinger A.B., Sanderson I.R., 2005. Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the –174 IL-6 G/C polymorphism in children Proceedings of the National Academy of Sciences, 102 (37), pp.13260-13265.

Curtis D., Brett P., Dearlove A.M., McQuillin A., Kalsi G., Robertson M.M., Gurling H.M., 2004. Genome scan of Tourette syndrome in a single large pedigree shows some support for linkage to regions of chromosomes 5, 10 and 13. Psychiatric Genetics, 14 (2), pp.83-87.

Georgiou T., Drousiotou A., Campos Y., Caciotti A., Sztriha L., Gururaj A., Ozand P., Zammarchi E., Morrone A., D’Azzo A., 2004. Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. Human Mutation, 24 (6) pp. 536-537.

Gissen P., Johnson C.A., Morgan N.V., Stapelbroek J.M., Forshew T., Cooper W.N., McKiernan P.J., Klomp L.W.J., Morris A.A.M., Wraith J.E., McClean P., Lynch S.A., Thompson R.J., Lo B., Quarrell O.W., Rocco M.D., Trembath R.C., Mandel H., Wali S., Karet F.E., Knisely A.S., Houwen R.H.J., Kelly D.A., Maher E.R., 2004. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nature Genetics, 36, pp.400-404.

Sellick G.S., Longman C., Tolmie J., Newbury-Ecob R., Geenhalgh L., Hughes S., Whiteford M., Garrett C., Houlston R.S., 2004. Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays. Nucleic Acids Research, 32 (20) e.164.

Woods C.G., Valente E.M., Bond J., Roberts E., 2004. A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. Journal of Medical Genetics, 41, e.101.

Yeo T.W., Maranian M., Singlehurst S., Gray J., Compston A., Sawcer S., 2004. Four single nucleotide polymorphisms from the Vitamin D Receptor Gene in UK Multiple Sclerosis. Journal of Neurology, 251 (6), pp.753-754.

Blumen S.C., Bevan S., Abu-Mouch S., Negus D., Kahana M., Inzelberg R., Mazarib A., Mahamid A., Carasso R.L., Slor H., Withers D., Nisipeanu P., Navon R., Reid E., 2003. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Annals of Neurology, 54 (6), pp.796-803.

King A.L., Moodie S.J., Fraser J.S., Curtis D., Reid E., Dearlove A.M., Ciclitira P.J., 2003. Related Articles, Links Coeliac disease: investigation of proposed causal variants in the CTLA4 gene region. European Journal of Immunogenetics, 30 (6), pp.427-32.

Ragge N.K., Hartley C., Dearlove A.M., Walker J., Russell-Eggitt I., Harris C.M., 2003. Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus. Journal of Medical Genetics, 40 (1), pp.37-41.

Dearlove A.M., 2002. High throughput genotyping technologies. Briefings in Functional Genomics and Proteomics, 1 (2), pp.139-150.

King A.L., Moodie S.J., Fraser J.S., Curtis D., Reid E., Dearlove A.M., Ellis H.J., Ciclitira P.J., 2002. CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families. Journal of Medical Genetics, 39 (1), pp.51-54.

Reid E., Kloos M., Ashley-Koch A., Hughes L., Bevan S., Svenson I.K., Graham F.L., Gaskell P.C., Dearlove A., Pericak-Vance M.A., Rubinsztein D.C., Marchuk D.A., 2002. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). The American Journal of Human Genetics, 71 (5), pp.1189-94.

King A.L., Fraser J.S., Moodie S.J., Curtis D., Dearlove A.M., Ellis H.J., Rosen-Bronson S., Ciclitira P.J., 2001. Coeliac disease: follow-up linkage study provides further support for existence of a susceptibility locus on chromosome 11p11. Annals of Human Genetics, 65 (4), pp.377-386.

Vulliamy T., Marrone A., Goldman F., Dearlove A., Bessler M., Mason P.J., Dokal I., 2001. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature, 413, pp.432-435.

Baralle D., Dearlove A.M., Beach R., C. Ffrench-Constant C., Reid E., 2000. Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity. Journal of Medical Genetics, Electronic letter 37 e31.

Brockington M., Sewry C.A., Herrmann R., Naom I., Dearlove A., Rhodes M., Topaloglu H., Dubowitz V., Voit T., Muntoni F., 2000. Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42. The American Journal of Human Genetics, 66 (2), pp.428–435.

King A.L., Yiannakou J.Y., Brett P.M., Curtis D., Morris M.A., Dearlove A.M., Rhodes M., Rosen-Bronson S.R., Mathew C., Ellis H.J., Ciclitira P.J. 2000. A genome-wide family-based linkage study of coeliac disease. Annals of Human Genetics, 64, pp.479-490.

Prescott N.J., Lees M.M., Winter R.M., Malcolm S., 2000. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Human Genetics, 106, pp.345-350.

Reid E., Dearlove A.M., Lee D.D., Meisler M.H., Rubensztein D.C., 2000. The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate. Journal of Medical Genetics, 38 p.65-67.

Ohadi M., Lalloz M.R.A, Sham P., Zhao J., Dearlove A.M., Shiach C., Kinsey S., Rhodes M., Layton D.M., 1999. Localization of a Gene for Familial Hemophagocytic Lymphohistiocyosis at Chromosome 9q21.3-22 by Homozygosity Mapping. The American Journal of Human Genetics, 64 (1), pp.165-171.

Reid E., Dearlove A.M., Rhodes M., Rubinsztein D.C., 1999. A New Locus for Autosomal Dominant "Pure" Hereditary Spastic Paraplegia Mapping to Chromosome 12q13, and Evidence for Further Genetic Heterogeneity The American Journal of Human Genetics, 65 (3), pp.757-763.

Reid E., Dearlove A.M., Rhodes M., Rubinsztein D.C., 1999. Autosomal dominant spastic Paraplegia: Refined SPG8 locus and additional genetic Heterogeneity. Neurology, 53 (8), pp.1844-1849.

Jackson S.N.J., Pinkney J., Bargiotta A., Veal C.D., Howlett T.A., McNally P.G., Corral R., Johnson A., Trembath R.C., 1998. A Defect in the Regional Deposition of Adipose Tissue (Partial Lipodystrophy) is Encoded by a Gene at Chromosome 1q. The American Journal of Human Genetics, 63 (2), pp.534-540.

Rhodes M., Straw R., Fernando S., Evans A., Lacey T., Dearlove A., Greystrong J., Walker J., Watson P., Weston P., Kelly M., Taylor D., Gibson K., Mundy C., Bourgade F., Poirier C., Simon D., Brunialti A.L., Montagutelli X., Gu’enet J.L., Haynes A., Brown S.D., 1998. A high-resolution microsatellite map of the mouse genome. Genome Research, 8 (5), pp.531-42.

Rhodes M., Dearlove A., Straw R., Fernando S., Evans A., Greener M., Lacey T., Kelly M., Gibson K., Brown S.D., Mundy C., 1997. High-throughput microsatellite analysis using fluorescent dUTPs for high-resolution genetic mapping of the mouse genome. Genome Research, 7 (1), pp.81-6.