If
you have any problems downloading documents from this page please
contact Helen White: hew@soton.ac.uk
2010
| Title |
pdf |
| 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] |
- |
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]
|
 (1.0MB) |
| 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. |
- |
| 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. |
- |
2009
| Title |
pdf |
| 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 |
- |
| 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. |
- |
2008
| Title |
pdf |
| 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 |
- |
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
|
- |
| 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 |
- |
| 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] |
- |
| 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 |
- |
| Thomas
NS, Bryant V, Maloney V, Cockwell AE,
Jacobs PA. Investigation of the origins of human autosomal
inversions. Hum Genet. 2008;123:607-16. |
- |
2007
| Title |
pdf |
| 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 |
- |
| 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. |
- |
| 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 |
- |
| 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. |
- |
| 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. |
- |
| 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. |
(0.2MB) |
| 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. |
- |
| 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. |
- |
| 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 |
- |
| 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. |
(0.1MB) |
2006
| Title |
pdf |
| 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. |
(0.1MB) |
| 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 |
(0.3MB)
|
| 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. |
(0.2MB) |
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)
|
(0.1MB) |
| 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. |
(0.3MB) |
| 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. |
(0.4MB) |
2005
| Title |
pdf |
| 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. |
(0.8MB) |
| 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. |
(0.3MB)
|
| Barber JCK.
Directly transmitted unbalanced chromosome abnormalities
and euchromatic variants. J Med Genet 2005 42(8):609-29. |
(0.6MB) |
| 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. |
(0.2MB) |
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.
|
(0.2MB) |
| 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. |
(0.1MB) |
| 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. |
(1.0MB) |
| 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. |
(0.3MB) |
2004
| Title |
pdf |
| 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. |
(0.1MB) |
| 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. |
(0.3MB)
|
| Harvey JF,
Sampson JR. Mutation scanning for the clinical laboratory:
DHPLC. Methods Mol Med. 2004;92:45-66. |
(0.7MB) |
| 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 |
(0.8MB) |
| 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. |
(0.2MB) |
| 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. |
(0.2MB) |
|
_
