Genotyping service - publications

C. Geoffrey Woods, James Cox, Kelly Springell, Daniel J. Hampshire, Moin D. Mohamed, Martin McKibbin, Rowena Stern, F. Lucy Raymond, Richard Sandford, Saghira Malik Sharif, Gulshan Karbani, Mustaq Ahmed, Jacquelyn Bond, David Clayton, and Chris F. Inglehearn. Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease The American Journal of Human Genetics 2006 78 889-896

Neil V. Morgan, Shanaz Pasha, Colin A. Johnson, John R. Ainsworth, Robin A. J. Eady, Ban Dawood, Carole McKeown, Richard C. Trembath, Jonathan Wilde, Steve P. Watson, and Eamonn R. Maher A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8) The American Journal of Human Genetics 2006 78 160-166

Mark R. Pett, M. Trent Herdman, Roger D. Palmer, Giles S. H. Yeo, Mahmud K. Shivji, Margaret A. Stanley, Nicholas Coleman Selection of cervical keratinocytes containing integrated HPV16 associates with episome loss and an endogenous antiviral response PNAS 2006 103 10 3822-3827

Clare Gooding, Francis Clark, Matthew C Wollerton, Sushma-Nagaraja Grellscheid, Harriet Groom, Christopher WJ Smith A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones Genome Biology 2006 7

Ursula M Smith, Mark Consugar, Louise J Tee, Brandy M McKee, Esther N Maina, Shelly Whelan, Neil V Morgan, Erin Goranson, Paul Gissen, Stacie Lilliquist, Irene A Aligianis, Christopher J Ward, Shanaz Pasha, Rachaneekorn Punyashthiti, Saghira Malik Sharif, Philip A Batman, Christopher P Bennett, C Geoffrey Woods, Carole McKeown, Martine Bucourt, Caroline A Miller, Phillip Cox, Lihadh AlGazali, Richard C Trembath, Vicente E Torres, Tania Attie-Bitach, Deirdre A Kelly, Eamonn R Maher, Vincent H Gattone II, Peter C Harris, Colin A Johnson The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat Nature Genetics 2006 38 191-196

Julie A.E. Irving, Lisa Bloodworth, Nick P. Bown, Marian C. Case, Linda A. Hogarth and Andrew G. Hall. Loss of Heterozygosity in Childhood Acute Lymphoblastic Leukemia Detected by Genome-Wide Microarray Single Nucleotide Polymorphism Analysis. Cancer Research 2005 65 3053-3058

Ilaria Del Giudice, Nnenna Osuji, Tim Dexter, Estella Matutes, Vasantha Brito-Babapulle, Nilima Parry-Jones, Daniel Catovsky. B-Cell Prolymphocytic Leukemia (B-PLL) and Chronic Lymphocytic Leukemia (CLL) Express Distinct Genomic Profiles. Blood (ASH Annual Meeting Abstracts) 2005 106: Abstract 4372

Sally Chappell 1, Leslie Daly 2, Kevin Morgan 1, Tamar Guetta Baranes 1, Josep Roca 4, Roberto Rabinovich 4, Ann Millar 5, Seamas C. Donnelly 3, Vera Keatings 6, William MacNee 7, Jan Stolk 8, Pieter Hiemstra 8, Massimo Miniati 9, Simonetta Monti 9, Clare M. O'Connor 3, Noor Kalsheker. Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease. Human Mutation 2005 27 1 103-109

William Davies, Anthony Isles, Rachel Smith, Delicia Karunadasa, Doreen Burrmann, Trevor Humby, Obah Ojarikre, Carol Biggin, David Skuse, Paul Burgoyne, Lawrence Wilkinson. Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice Nature Genetics 2005 37 625-629

Andrew Sawczenko, Omeia Azooz, Joanna Paraszczuk, Maja Idestrom, Nick M. Croft, Martin O. Savage, Anne B. Ballinger, Ian R. Sanderson ntestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the –174 IL-6 G/C polymorphism in children PNAS 2005 102 37

Gillian P. Crockford, Rachel Linger, Sarah Hockley, Darshna Dudakia, Lola Johnson, Robert Huddart, Kathy Tucker, Michael Friedlander, Kelly-Anne Phillips, David Hogg, Michael A.S. Jewett, Radka Lohynska, Gedske Daugaard, Stéphane Richard, Agnes Chompret, Catherine Bonaïti-Pellié, Axel Heidenreich, Peter Albers, Edith Olah, Lajos Geczi, Istvan Bodrogi, Wilma J. Ormiston, Peter A. Daly, Parry Guilford, Sophie D. Fosså, Ketil Heimdal, Sergei A. Tjulandin, Ludmila Liubchenko, Hans Stoll, Walter Weber, David Forman, Timothy Oliver, Lawrence Einhorn, Mary McMaster, Joan Kramer, Mark H. Greene, Barbara L. Weber, Katherine L. Nathanson, Victoria Cortessis, Douglas F. Easton, D. Timothy Bishop, Michael R. Stratton, Elizabeth A. Rapley Genome-wide linkage screen for testicular germ cell tumour susceptibility loci Molecular Genetics 2005 3 443-451

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

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

Tai Wai Yeo, Mel Maranian, Sara Singlehurst, Julia Gray, Alastair Compston, Stephen Sawcer. Four single nucleotide polymorphisms from the Vitamin D Receptor Gene in UK Multiple Sclerosis Journal of Neurology 2004 251 6 753-754

Paul Gissen, Colin A Johnson, Neil V Morgan, Janneke M Stapelbroek, Tim Forshew, Wendy N Cooper, Patrick J McKiernan, Leo W J Klomp, Andrew A M Morris, James E Wraith, Patricia McClean, Sally A Lynch, Richard J Thompson, Bryan Lo, Oliver W Quarrell, Maja Di Rocco, Richard C Trembath, Hanna Mandel, S Wali, Fiona E Karet, A S Knisely, Roderick H J Houwen, Deirdre A Kelly, Eamonn R Maher Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nature Genetics 2004 36 400-404

Gabrielle S. Sellick, Cheryl Longman, John Tolmie, Ruth Newbury-Ecob, Lynn Geenhalgh, Simon Hughes, Margo Whiteford, Christine Garrett, Richard S. Houlston. Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays Nucleic Acids Research 2004 32 20

Curtis D, Brett P, Dearlove AM, McQuillin A, Kalsi G, Robertson MM, Gurling HM Genome scan of Tourette syndrome in a single large pedigree shows some support for linkage to regions of chromosomes 5, 10 and 13. Psychiatr Genet. 2004 Jun;14(2):83-87.

Blumen SC, Bevan S, Abu-Mouch S, Negus D, Kahana M, Inzelberg R, Mazarib A, Mahamid A, Carasso RL, Slor H, Withers D, Nisipeanu P, Navon R, Reid E. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann Neurol. 2003 Dec; 54(6):796-803.

King AL, Moodie SJ, Fraser JS, Curtis D, Reid E, Dearlove AM, Ciclitira PJ. Related Articles, Links Coeliac disease: investigation of proposed causal variants in the CTLA4 gene region. Eur J Immunogenet. 2003 Dec; 30(6):427-32.

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

E.Reid, M.Kloos, A. Ashley-Koch, L.Hughes, S.Bevan, I.K.Svenson, F.L.Graham, P.C.Gaskell, A.Dearlove, M.A.Pericak-Vance, D.C.Rubinsztein, D.A.Marchuk. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet. 71(5):1189-94, Nov 2002.

A.M.Dearlove. High throughput genotyping technologies. Briefings in Functional Genomics and Proteomics vol.1, no.2, 139-150, July 2002

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

Tom Vulliamy, Anna Marrone, Frederick Goldman, Andrew Dearlove, Monica Bessler, Philip J. Mason, Inderjeet Dokal. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413, 432-435, 27 September 2001.

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

A.L. King, J.Y. Yiannakou, P.M. Brett, D. Curtis, M.-A. Morris, A.M. Dearlove, M. Rhodes, S.R. Rosen-Bronson, C. Mathew, H.J. Ellis, and P.J. Ciclitira. A genome-wide family-based linkage study of coeliac disease. Ann. Hum. Genet., 64.479-490, 2000.

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

E. Reid, A.M. Dearlove, O. Osborn, M.T. Rogers, and D.C. Rubinsztein. A Locus for Autosomal Dominant "Pure" Hereditary Spastic Paraplegia Maps to Chromosome 19q13. Am. J. Hum. Genet. Volume 66, Number 2: February 2000.

Martin Brockington, Caroline A. Sewry, Ralf Herrmann, Isam Naom, Andrew Dearlove, Michael Rhodes, Haluk Topaloglu, Victor Dubowitz, Thomas Voit, and Francesco Muntoni. Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42. Am. J. Hum. Genet. Volume 66, Number 2, February 2000.

N.J. Prescott, MM Lees, R.M. Winter and S. Malcolm. 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 Online Publication 106: 345-350, February 2000.

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

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

E. Reid, A.M. Dearlove, M. Rhodes and D.C. Rubinsztein. A New Locus for Autosomal Dominant "Pure" Hereditary Spastic Paraplegia Mapping to Chromosome 12q13, and Evidence for Further Genetic Heterogeneity. Am. J. Hum. Genet. Volume 65, Number 3: 757-763, September 1999.

Mina Ohadi, Michel R.A. Lalloz, Pak Sham, Jinghua Zhao, Andrew M. Dearlove, Caroline Shiach, Sally Kinsey, Michael Rhodes, and D. Mark Layton. Localization of a Gene for Familial Hemophagocytic Lymphohistiocyosis at Chromosome 9q21.3-22 by Homozygosity Mapping. Am. J. Hum. Genet. Volume 64, Number 1: 165-171, January 1999.

Stephen N.J. Jackson, John Pinkney, Alex Bargiotta, Colin D. Veal, Trevor A. Howlett, Paul G. McNally, Roger Corral, Andrew Johnson, and Richard C. Trembath. A Defect in the Regional Deposition of Adipose Tissue (Partial Lipodystrophy) is Encoded by a Gene at Chromosome 1q. Am. J. Hum. Genet. Volume 63, Number 2: 534-540, August 1998.

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 AL, Montagutelli X, Gu'enet JL, Haynes A, Brown SD. A high-resolution microsatellite map of the mouse genome. Genome Res. 1998 May; 8(5):531-42.

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