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Downloads - Other Publications

Reports and Application notes Presentations and Posters Other publications


If you have any problems downloading documents from this page please contact Helen White: hew@soton.ac.uk

2010

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Kreil S, Waghorn K, Ernst T, Chase A, White H, Hehlmann R, Reiter A, Hochhaus A, and Cross NCP on behalf of the German CML Study Group. A polymorphism associated with STAT3 expression and response of chronic myeloid leukemia to interferon a. Haematologica. 2010; 95:148-152  
White HE, Matejtschuk P, Rigsby P, Gabert J, Lin F, Wang YL, Branford S, Müller MC, Beaufils N, Beillard E, Colomer D, Dvorakova D, Ehrencrona H, Goh H-G, El Housni H, Jones D, Kairisto V, Kamel-Reid S, Kim D-W, Langabeer S, Ma ESK, Press RD, Romeo G, Wang L, Zoi K, Hughes T, Saglio G, Hochhaus A, Goldman JM, Metcalfe P, Cross NCP. Establishment of the 1st World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA. Blood, Aug 2010; doi:10.1182/blood-2010-06-291641  
Docherty LE, Poole RL, Mattocks CJ, Lehmann A, Temple IK, Mackay DJ. Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. Diabetologia. 2010 Jul 30. [Epub ahead of print]
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Mattocks CJ, Morris MA, Matthijs G, Swinnen E, Corveleyn A, Dequeker E, Müller CR, Pratt V, Wallace A. A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet. 2010 Jul 28. [Epub ahead of print]

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Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR. Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat. 2010 Apr;31(4):484-91.
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Mattocks CJ, Watkins G, Ward D, Janssens T, Bosgoed EA, van der Donk K, Ligtenberg MJ, Pot B, Theelen J, Cross NC, Scheffer H, Matthijs G. Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning. Clin Chem. 2010 Apr;56(4):593-602. Epub 2010 Feb 18.
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2009

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Chitty L, Norbury G, White H (2009) Non-invasive prenatal diagnosis – the future of prenatal genetic diagnosis? In Kehoe S, Chitty L and Homfray T(Ed) Reproductive Genetics (Chapter 11). RCOG Press.  
Chiecchio L, Dagrada GP, White HE, Towsend MR, Protheroe RKM, Cheung KL, Stockley DM, Orchard KH, CP Cross NCP, Harrison CJ and Ross FM on behalf of the UK Myeloma Forum. Frequent Upregulation of MYC in Plasma Cell Leukemia. Genes Chromosomes Cancer. 2009 Jul;48(7):624-36
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Ellard S, Shields B, Tysoe C, Treacy R, Yau S, Mattocks C, Wallace A. Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. Genet Test Mol Biomarkers. 2009 Jun;13(3):381-6.
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2008

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Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet. 2008;82:927-36
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Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet. 2008;16:18-27

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Jones AV, Cross NCP, White HE, Green AR, Scott LM. Rapid identification of JAK2 Exon 12 mutations using high resolution melting (HRM) analysis. Haematologica 2008
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Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet. 2008 Jul 11. [Epub ahead of print]
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Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. 2008;146:558-69
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Thomas NS, Bryant V, Maloney V, Cockwell AE, Jacobs PA. Investigation of the origins of human autosomal inversions. Hum Genet. 2008;123:607-16.
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2007

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Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet. 2008;16:18-27
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Barber JC, Maloney VK, Kirchhoff M, Thomas NS, Boyle TA, Castle B. Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences. Am J Med Genet A. 2007;143:615-8.
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Bruggemann M, White H, Gaulard P, Garcia-Sanz R, Gameiro P, Oeschger S, Jasani B, Ott M, Delsol G, Orfao A, Tiemann M, Herbst H, Langerak AW, Spaargaren M, Moreau E, Groenen PJ, Sambade C, Foroni L, Carter GI, Hummel M, Bastard C, Davi F, Delfau-Larue MH, Kneba M, van Dongen JJ, Beldjord K, Molina TJ. Powerful strategy for polymerase chain reaction-based clonality assessment in T-cell malignancies Report of the BIOMED-2 Concerted Action BHM4 CT98-3936. Leukemia. 2007 Feb;21(2):215-21
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Burgstaller S, Kreil S, Waghorn K, Metzgeroth G, Preudhomme C, Zoi K, White H, Cilloni D, Zoi C, Brito-Babapulle F, Walz C, Reiter A, Cross NC. The severity of FIP1L1-PDGFRA-positive chronic eosinophilic leukaemia is associated with polymorphic variation at the IL5RA locus. Leukemia. 2007 Dec;21(12):2428-32.
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Cross NCP, Hughes TP, Hochhaus A, Goldman JM. International standardisation of quantitative real-time RT-PCR for BCR-ABL. Leuk Res. 2008;32:505-6.
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E. Dicks, J. W. Teague, P. Stephens, K. Raine, A. Yates, C. Mattocks, P. Tarpey, A. Butler, A. Menzies, D. Richardson, A. Jenkinson, H. Davies, S. Edkins, S. Forbes, K. Gray, C. Greenman, R. Shepherd, M. R. Stratton, P. A. Futreal and R. Wooster. AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. Bioinformatics. 2007 Jul 1;23(13):1689-9.
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Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD. Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. Clin Dysmorphol. 2007;16:241-6.
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Stevens C, Lin Y, Sanchez C, Amin E, Copson E, White H, Durston V, Eccles S, Hupp T. A germline mutation in the death domain of DAPK-1 inactivates ERK induced apoptosis. J Biol Chem. 2007 May 4;282(18):13791-803.
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van Krieken JH, Langerak AW, Macintyre EA, Kneba M, Hodges E, Sanz RG, Morgan GJ, Parreira A, Molina TJ, Cabecadas J, Gaulard P, Jasani B, Garcia JF, Ott M, Hannsmann ML, Berger F, Hummel M, Davi F, Bruggemann M, Lavender FL, Schuuring E, Evans PA, White H, Salles G, Groenen PJ, Gameiro P, Pott Ch, Dongen JJ. Improved reliability of lymphoma diagnostics via PCR-based clonality testing: - Report of the BIOMED-2 Concerted Action BHM4-CT98-3936. Leukemia. 2007 Feb;21(2):201-6
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White HE, Hall VJ, Cross NCP. Methylation-Sensitive High-Resolution Melting-Curve Analysis of the SNRPN Gene as a Diagnostic Screen for Prader-Willi and Angelman Syndromes. Clinical Chemistry. 2007;53:1960-1962.
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2006

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Barber JC, Maloney VK, Bewes B, Wakeling E. Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype. Eur J Hum Genet 2006; 14(6):739-43.
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Bunyan DJ, SkinnerAC, Ashton EJ. , Sillibourne J, Brown T, Collins AL, Cross NCP, Harvey JF, Robinson DO. Simultaneous MLPA-Based Multiplex Point Mutation and Deletion Analysis of the Dystrophin Gene

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Cockwell AE, Maloney VK, Thomas NS, Smith EL, Gonda P, Bass P, Crolla JA. Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities. Cytogenet Genome Res. 2006;112:166-9.
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Copson ER, White HE, Blaydes JP, Robinson DO, Johnson PW, Eccles DM. Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers. BMC Cancer 2006; 6:80 (24 March)

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Mackay DJ, Hahnemann JM, Boonen SE, Poerksen S, Bunyan DJ, White HE, Durston VJ, Thomas NS, Robinson DO, Shield JP, Clayton-Smith J, Temple IK. Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet. 2006;119:179-84.
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Mackay DJG, Boonen SE, Clayton Smith J, Goodship J, Hahnemann JM, Kant SG, Njolstad PR, Robin NH, Siebert JPH, Shield R, White HE, Temple IK. A maternal hypomethylation syndrome presenting as transient neonatal diabetes. Human Genetics 2006; 120(2): 262-269.  
White HE, Durston VJ, Harvey JF, Cross NCP. Quantitative analysis of SNRPN gene methylation by Pyrosequencing as a diagnostic test for Prader Willi Syndrome and Angelman Syndrome. Clin Chem. 2006; 52(6):1005-13.
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2005

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Alharbi KK, Aldahmesh MA, Spanakis E, Haddad L, Whittall RA, Chen XH, Rassoulian H, Smith MJ, Sillibourne J, Ball NJ, Graham NJ, Briggs PJ, Simpson IA, Phillips DI, Lawlor DA, Ye S, Humphries SE, Cooper C, Smith GD, Ebrahim S, Eccles DM, Day IN. Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population. Genome Res. 2005;15(7):967-77.
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Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Bunyan DJ, Kerr AM, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, Macdermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson JR, Pilz DT, Laccone F and Clarke AJ. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome. J Med Genet 2005;doi:10.1136/jmg.2005.033464.

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Barber JCK. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 2005 42(8):609-29.
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Barber JCK, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T. Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Hum Genet. 2005 ;13(10):1131-6.
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Charman T, Neilson TCS, Mash V, Archer H, Gardiner MT, Knudsen GPS, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Ørstavik KH, Reilly S, Cass H, Clarke A, Kerr AM and Bailey MES. (2005) Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. Eur J Hum Genet. 2005;13:1121-1130.
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Eccles DM, Bunyan DJ, Barker S and Castle B (2005) BRCA1 mutation and neuronal migration defect: implications for chemoprevention. J Med Genet;42(5):e24.
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Smith MJ, Pante-de-Sousa G, Alharbi KK, Chen XH, Day IN, Fox KR. Combination of His-tagged T4 endonuclease VII with microplate array diagonal gel electrophoresis for high-throughput mutation scanning. Clin Chem 2005;51(6):1043-6.
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White HE, Durston VJ, Seller A, Fratter C, Harvey JF, Cross NCP. Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing. Genetic Testing 2005 9(3); 190-199.
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2004

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Bunyan DJ, Eccles DM, Sillibourne J, Wilkins E, Thomas NS, Shea-Simmonds J, Duncan PJ, Curtis CE, Robinson DO, Harvey JF, Cross NC. Dosage analysis of cancer predisposition genes by Multiplex Ligation-Dependent Probe Amplification. Br J Cancer 2004;91(6):1155-1159.
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Chen XH, Rodriguez S, Hawe E, Talmud PJ, Miller GJ, Underhill P, Humphries SE, Day IN. Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses.Hum Hered. 2004;57(3):142-55.

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Harvey JF, Sampson JR. Mutation scanning for the clinical laboratory: DHPLC. Methods Mol Med. 2004;92:45-66.
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Pigatto F, Bateman A, Bunyan DJ, Strike P, Wilkins E, Curtis CE, Duncan PJ, May D, Nugent K, Eccles DM. Economic and practical factors in diagnosing HNPCC using clinical criteria, immunohistochemistry and microsatellite instability analysis. Hered Can Clin Pract 2004;2(4):175-84
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Rodriguez S, Chen XH, Day IN.Typing dinucleotide repeat loci using microplate array diagonal gel electrophoresis: proof of principle. Electrophoresis. 2004 Apr;25(7-8):975-9.
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Thomas NS, Maloney V, Bass P, Mulik V, Wellesley D, Castle B. SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. Am J Med Genet A. 2004;128:179-84.
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2006 National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury SP2 8BJ; Tel: +44 (0)1722 429080; E-mail:ncpc@soton.ac.uk