Anderson C. A., Pettersson F. H., Barrett J. C., Zhuang J. J., Ragoussis J., Cardon L. R., and Morris A. P. (2008). Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms. Am J Hum Genet 83: 112-9. [PMID: 18589396]

Figtree G. A., Grieve S. M., Speller B., Geiger M. J., Robinson B. G., Channon K. M., Ragoussis J., Collins P., and Watkins H. (2008b). A commonly occurring polymorphism upstream of the estrogen receptor alpha alters transcription and is associated with increased HDL. Atherosclerosis 199: 354-61. [PMID: 18367190]

Giannoulatou E., Yau C., Colella S., Ragoussis J., and Holmes C. C. (2008). GenoSNP: a variational Bayes within-sample SNP genotyping algorithm that does not require a reference population. Bioinformatics 24: 2209-14.

Paracchini S., Steer C. D., Buckingham L. L., Morris A. P., Ring S., Scerri T., Stein J., Pembrey M. E., Ragoussis J., Golding J., and Monaco A. P. (2008). Association of the KIAA0319 Dyslexia Susceptibility Gene With Reading Skills in the General Population. Am J Psychiatry. [PMID: 18829873]

Szumska D., Pieles G., Essalmani R., Bilski M., Mesnard D., Kaur K., Franklyn A., El Omari K., Jefferis J., Bentham J., Taylor J. M., Schneider J. E., Arnold S. J., Johnson P., Tymowska-Lalanne Z., Stammers D., Clarke K., Neubauer S., Morris A., Brown S. D., Shaw-Smith C., Cama A., Capra V., Ragoussis J., Constam D., Seidah N. G., Prat A., and Bhattacharya S. (2008). VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. Genes Dev 22: 1465-77. [PMID: 18519639]

Vernes S. C., Newbury D. F., Abrahams B. S., Winchester L., Nicod J., Groszer M., Alarcon M., Oliver P. L., Davies K. E., Geschwind D. H., Monaco A. P., and Fisher S. E. (2008). A Functional Genetic Link between Distinct Developmental Language Disorders. N Engl J Med. [PMID: 18987363]

2007

Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, Bassett AS, Seller A, Holmes CC, Ragoussis J (2007) QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res. Mar 6; Epub ahead of print [PMID: 17341461]

2006

Ragoussis J, Elvidge, GP, Kaur K, Colella S (2006) Matrix assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research, PLoS Genet. 2(7): e100 [PMID: 16895448] [PLoS Genetics]

Laun K, Coggill P, Palmer S, Sims S, Ning Z, Ragoussis J, Volpi E, Wilson N, Beck S, Ziegler A, Volz A.  (2006) The leukocyte receptor complex in chicken is characterized by massive expansion and diversification of immunoglobulin-like Loci. PLoS Genet. May;2(5):e73. [PMID: 16699593] [PLoS Genetics]

Lai MI, Jiang J, Silver N, Best S, Menzel S, Mijovic A, Colella S, Ragoussis J, Garner C, Weiss MJ, and Thein SL (2006) AHSP is a quantitative trait gene that modifies the phenotype of β thalassaemia. Br J Haematol.  Jun;133(6):675-82.  [PMID: 16704446]

Elvidge GP, Glenny L, Appelhoff RJ, Ratcliffe PJ, Ragoussis J, Gleadle JM. (2006) Concordant regulation of gene expression by hypoxia and 2-oxoglutarate-dependent dioxygenase inhibition: the role of HIF-1alpha, HIF-2alpha, and other pathways. J Biol Chem. Jun 2;281(22)15215-26. [PMID: 16565084]

Elvidge G (2006). Microarray expression technology: from start to finish. Pharmacogenomics 7: 123-34. [PMID: 16354130]

Ragoussis J and Elvidge G (2006) Affymetrix GeneChip System: Moving from Research to the Clinic Expert. Review of Molecular Diagnostics Mar;6(2):145-52. [PMID: 16512775]

Caluseriu O, Mirza G, Ragoussis J, Chow EWC, MacCrimmon D, Bassett AS (2006). A psychiatric phenotype in 6p25 deletion syndrome. Am. J. Med. Genet. Jun 1;140(11):1208-13. [PMID: 16642507]

2005

Lawrence R, Evans DM, Morris AP, Ke X, Hunt S, Paolucci M, Ragoussis J, Deloukas P, Bentley D and Cardon LR. (2005) Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants. Genome Research 15(11): 1503-10. [PMID: 16251460]

Yamazaki K, McGovern D, Ragoussis J, Paolucci M, Butler H, Jewell D, Takazoe M, Tanaka T, Ichimori T, Saito S, Sekine A, Iida A, Takahashi A, Tsunoda T, Lathrop M and Nakamura Y (2005) single nucleotide polymorphisms in TNFSF15 confer susceptibility to Inflammatory Bowel Disease. Hum Mol Genet 14: 3499-506. [PMID: 16221758]

Bogani D, Davies J, Kaur K, Mirza G, Willoughby C, Paydal A, Haines H, McKeonoe R, Cadmann M, Pieles G, Schneider J, Bhattacharya S, Hardy A, Nolan P, Tripodis N, Depew M, Chandrasekara R, Duncan G, Greenfield A, Sharpe P, Denny P, Brown SDM, Ragoussis J and Arkell R (2005) Dissecting the genetiv complexity of human 6p deletion syndromes using a region-specific phenotype-driven mouse genetic screen. Proc Natl Acad Sci USA 102: 12477-82, 2005. [PMID: 16109771]

Price TS, Regan R, Mott R, Hedman A, Honey B, Daniels RJ, Smith L, Greenfield A, Tiganescu A, Buckle V, Ventress N, Ayyub H, Salhan A, Pedraza-Diaz S, Broxholme J, Ragoussis J, Higgs DR, Flint J and Knight SJ. (2005) SW-ARRAY: a dyamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data. Nucleic Acids Res 33: 3455-64. [PMID: 15961730]

Elvidge GP, Price TS, Glenny L, and Ragoussis J (2005). Development and evaluation of real competitive PCR for high-throughput quantitative applications. Anal Biochem 339: 231-41. [PMID: 15797563]

Kamakari S, Roussou A, Jefferson A, Ragoussis I, and Anagnou NP (2005). Structural analysis and expression profile of a novel gene on chromosome 5q23 encoding a Golgi-associated protein with six splice variants, and involved within the 5q deletion of a Ph(-) CML patient. Leuk Res 29: 17-31. [PMID: 15541471]

2004

Davies SJ, Wise C, Venkatesh B, Mirza G, Jefferson A, Volpi EV, and Ragoussis J (2004). Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. Cytogenet Genome Res 105: 47-53. [PMID: 15218257]

Mirza G, Williams RR, Mohammed S, Clark R, Newbury-Ecob R, Baldinger S, Flinter F, and Ragoussis J (2004). Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. Eur J Hum Genet.12:718-28. [PMID: 1515054]

Linnell J., Mott R., Field S., Kwiatkowski D. P., Ragoussis J., and Udalova I. A. (2004). Quantitative high-throughput analysis of transcription factor binding specificities. Nucleic Acids Res 32: e44. [PMID: 14990752]

Lehmann D. J., Hogervorst E., Warden D. R., Smith A. D., Butler H. T., and Ragoussis J. (2004). The androgen receptor CAG repeat and serum testosterone in the risk of Alzheimer's disease in men. J Neurol Neurosurg Psychiatry 75: 163-4. [PMID: 14707333]

Gimara D, Depew M, Ragoussis J, Sharpe P (2004) Craniofacial phenotypes of X-ray and ENU-induced mutations in mice. Oral Biosci Med.1: 29-34

Porter D. E., Lonie L., Fraser M., Dobson-Stone C., Porter J. R., Monaco A. P., and Simpson A. H. (2004). Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br 86: 1041-6. [PMID: 15446535]

Giouzeli M., Williams N. A., Lonie L., DeLisi L. E., and Crow T. J. (2004). ProtocadherinX/Y, a candidate gene-pair for schizophrenia and schizoaffective disorder: a DHPLC investigation of genomic sequence. Am J Med Genet B Neuropsychiatr Genet 129: 1-9. [PMID: 15274028]

Fairclough R. J., Lonie L., Van Baelen K., Haftek M., Munro C. S., Burge S. M., and Hovnanian A. (2004). Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. J Invest Dermatol 123: 67-71. [PMID: 15191544]

Winsey S., Lonie L., Allen J., Bunce M., Marshall S. E., and Wojnarowska F. (2004). Genetic variation in COL17A1 and the development of bullous pemphigoid. Exp Dermatol 13: 140-7. [PMID: 14987253]

Timms A. E., Crane A. M., Sims A. M., Cordell H. J., Bradbury L. A., Abbott A., Coyne M. R., Beynon O., Herzberg I., Duff G. W., Calin A., Cardon L. R., Wordsworth B. P., and Brown M. A. (2004). The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis. Am J Hum Genet 75: 587-95. [PMID: 15309690]

2003

Lehmann DJ, Butler HT, Warden DR, Combrinck M, King E, Nicoll JA, Budge MM, de Jager CA, Hogervorst E, Esiri MM, Ragoussis J, and Smith AD (2003). Association of the androgen receptor CAG repeat polymorphism with Alzheimer's disease in men. Neurosci Lett 340: 87-90. [PMID: 12668243]

Sebastiani G., Wallace D. F., Lioumi M., Goutos I., Mitchell W. A., Bomford A. B., Dhillon A. P., Dooley J. S., Ragoussis J., and Walker A. P. (2003). Non HFE-related haemochromatosis: exclusion of the 1q21 zinc-iron regulated transporter-like (ZIRTL) gene in juvenile haemochromatosis. J Hepatol 38: 376-7. [PMID: 12586309]

Bonora E., Beyer K. S., Lamb J. A., Parr J. R., Klauck S. M., Benner A., Paolucci M., Abbott A., Ragoussis I., Poustka A., Bailey A. J., and Monaco A. P. (2003). Analysis of reelin as a candidate gene for autism. Mol Psychiatry 8: 885-92. [PMID: 14515139]

2002

Halliday D. J., Hutchinson S., Lonie L., Hurst J. A., Firth H., Handford P. A., and Wordsworth P. (2002). Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet 39: 589-93. [PMID: 12161601]

Bitoun E., Chavanas S., Irvine A. D., Lonie L., Bodemer C., Paradisi M., Hamel-Teillac D., Ansai S., Mitsuhashi Y., Taieb A., de Prost Y., Zambruno G., Harper J. I., and Hovnanian A. (2002). Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 118: 352-61. [PMID: 11841556]

Williams, R., Broad, S., Sheer, D. and Ragoussis, J. (2002). Sub-chromosomal positioning of the Epidermal Differentiation Complex (EDC) in keratinocyte and lymphoblast interphase nuclei. Exp. Cell. Res. 272, 163-175 [PMID: 11777341]

Meza-Zepeda L. A., Forus A., Lygren B., Dahlberg A. B., Godager L. H., South A. P., Marenholz I., Lioumi M., Florenes V. A., Maelandsmo G. M., Serra M., Mischke D., Nizetic D., Ragoussis J., Tarkkanen M., Nesland J. M., Knuutila S., and Myklebost O. (2002). Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21. Oncogene 21: 2261-9. [PMID: 11948409]

Talukder A. H., Bagheri-Yarmand R., Williams R. R., Ragoussis J., Kumar R., and Raz A. (2002). Antihuman Epidermal Growth Factor Receptor 2 Antibody Herceptin Inhibits Autocrine Motility Factor (AMF) Expression and Potentiates Antitumor Effects of AMF Inhibitors. Clin Cancer Res 8: 3285-9. [PMID: 12374700]

2001

Bolino A., Lonie L. J., Zimmer M., Boerkoel C. F., Takashima H., Monaco A. P., and Lupski J. R. (2001). Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics 3: 107-9. [PMID: 11354824]

Ng, D., Mowrey, P., Ragoussis, J., Mirza, G., Coll, E., Di Fazio, M., Turner, C. Levin S.W. (2001). A Molecularly Defined Interstitial Tandem Duplication 6p Case with Mild Features. Am. J. Med. Genet. 103, 4, 320-325 [PMID: 11746013]

2000

Dobson-Stone C., Cox R. D., Lonie L., Southam L., Fraser M., Wise C., Bernier F., Hodgson S., Porter D. E., Simpson A. H., and Monaco A. P. (2000). Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. Eur J Hum Genet 8: 24-32. [PMID: 10713884]

Book Chapters

Humprey S, Knaggs S, Ragoussis I (2001). Contiguation of bacterial clones. Methods In Molecular Biology Vol.175: Genomic Protocols (ed M. Starkey and R. Elaswarapu). Humana Press, pp69-108

Mir KU and Ragoussis J (2003) High throughput genotyping and the PCR. In PCR Technology: Current Innovations, second Edition (Editor T. Weissensteiner) CRC Press p 85-98

Markie D, Jones E and Ragoussis J Mitotic recombination of yeast artificial chromosomes (2nd edition). Methods in Mol. Biol. Humana Press 2005 (in press)

Ragoussis J, Field Sand Udalova I. Quantitative profiling of protein-DNA binding on microarrays. (2006) Methods in Mol. Biol  338: 261-80. Humana Press [PMID: 16888364]

Butler H., and Ragoussis J. (2008). BeadArray-Based Genotyping. Methods Mol Biol 439: 53-74

Technology Notes

Abbott A, Butler H, Redhead N, Ragoussis J Evaluation of BD TITANIUM Taq for high throughput genotyping using MassARRAY (2003) Clontechniques Oct 2003: 12-13 [PDF file]