If
you have any problems downloading documents from this page please
contact Helen White: hew@soton.ac.uk
2010
Meeting
|
Title |
pdf |
ppt |
BSHG Meeting, Warwick, Sept 2010. |
White HE, Sanders R, Scott DJ, Huggett J,Hall VJ, Waghorn K, Lyon M, Foy CA, Cross NCP Screening for fusion genes involving PDGFRA or PDGFRB in patients with eosinophilia-associated myeloproliferative neoplasms (Eos-MPN) using the Fluidigm BioMark real-time PCR system and 48.48 Dynamic Array |
(130KB) |
|
15th International Conference on Prenatal Diagnosis and Therapy, Amsterdam July 2010. |
HE White, CL Dent, VJ Hall, JA Crolla, LS Chitty. Facilitating implementation of NIPD: a modified protocol to detect the universal fetal DNA marker RASSF1A. |
(509KB) |
|
Accuracy in Molecular Measurement Meeting, London, 24th June 2010. |
White HE Sensitive and quantitative detection of KIT D816V in patients with systemic mastocytosis |
(794KB) |
|
European Hematology Association, Barcelona, June 2010. |
HE White, P Matejtschuk, P Rigsby, J Gabert, YL Wang, S Branford, MC Müller, N Beaufils, E Beillard, D Colomer, D Dvorakova, H Ehrencrona, H Goh, H El Housni, D Jones, V Kairisto, S Kamel-Reid, D-W Kim, S L angabeer, ESK Ma, R Press, G Romeo, L Wang, K Zoi, T Hughes, G Saglio, A Hochhaus, J Goldman, P Metcalfe, NCP Cross Establishment of the 1st World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA. |
(165KB) |
|
ACC, Oxford, April 2010 |
HE White Developing NIPD for aneuploidy |
(735KB) |
|
RAPID Lab dissemination meeting, London, Jan 2010. |
White HE Development of RASSF1A assay: universal fetal DNA marker |
(1.01MB) |
|
RAPID Lab dissemination meeting, London, Jan 2010. |
White HE Developing NIPD for aneuploidy |
(454KB) |
|
BSHG |
Mattocks CJ, Matthijs G, Morris M on behalf of the EuroGentest working group on validation “A standardised framework for the validation and verification of diagnostic molecular genetic tests” |
(368KB) |
|
CMGS – April 2010 |
Mattocks CJ “Clonal sequencing technologies” |
(368KB) |
|
ACC – April 2010 |
Mattocks CJ “The use of new sequencing technologies for genome analysis” |
(524KB) |
|
READNA – January 2010 |
Mattocks CJ “Clonal sequencing technologies: considerations for diagnostic service delivery” |
(81KB) |
|
2009
Meeting
|
Title |
pdf |
ppt |
EuroGenTest basic workshop on validation – October 2009 (Bologna) |
Mattocks CJ “Validation parameters: An introduction to measures of
test accuracy” |
(301KB) |
|
EuroGenTest basic workshop on validation – October 2009 (Bologna) |
Mattocks CJ “Planning and managing validation: A Generic Validation proforma” |
(93KB) |
|
EuroGenTest basic workshop on validation – October 2009 (Bologna) |
Mattocks CJ “Food for thought: Statistical limitations on the power of validation” |
(150KB) |
|
EuroGenTest basic workshop on validation – October 2009 (Bologna) |
Mattocks CJ “Validation of mutliplex ligation-dependent probe amplification: A competitive hypothesis testing approach” |
(143KB) |
|
BSH – April 2009 |
Mattocks CJ “Diagnostic application of next generation sequencing” |
|
|
BSHG |
White H "Non invasive prenatal detection of Down syndrome: an update and overview of the use of new genetic technologies" |
(1MB) |
- |
BSHG |
White HE, Scott DJ, Hall VJ, Waghorn K, Sanders R, Foy CA, Cross NCP "Sensitive and quantitative detection of KIT D816V in patients with systemic mastocytosis using allele specific real time PCR and digital PCR" |
(1MB)) |
- |
RAPID Launch - July 2009 |
White H "Developing NIPD for fetal aneuploidy" |
(1MB) |
- |
Antenatal newborn screening programme regional team meeting Feb 2009
|
White H " Non-invasive prenatal detection of Down syndrome" |
(1.25MB) |
- |
2008
Meeting |
Title |
pdf |
ppt |
Clinical
Molecular Genetics Society:
Diagnostic Applications of Clonal Sequencing
|
Mattocks
C ."Next generation sequencing, targeting for
diagnostic applications" |
(2.5MB) |
- |
Genetic
Screening: Society for Genomics Policy and Public Health
- 3rd AGM |
White
H. "New genetic technologies for non-invasive
detection of Down syndrome" |
(1.0MB) |
- |
9th
Meeting on: Clinical Applications of Real Time PCR technology |
White
H. "High resolution melting for analysis of methylation" |
(0.8MB) |
- |
|
White
H. "The National Genetics Reference Lab ( Wessex):
who are we and what do we do? " |
(1.2MB) |
- |
ESHG |
Mattocks
C , Watkins G , Ward D ,
Janssens T , Matthijs G , Bosgoed E , van der Donk
K , Scheffer H , Pot B 5, Theelen J 6, Aspholm T 6, Cross
NCP : Inter-laboratory diagnostic validation
of conformation sensitive capillary electrophoresis.
European Journal of Human Genetics 2008;16 Suppl 2:333 |
(0.4MB) |
- |
|
Swinnen
E, Bakker E, Barton DE, Berwouts S, Bossuyt P, Camajova
J, Corveleyn A, Dequeker E, Janssens T, Macek Jr M, Mann
I, Mattocks C, Morris M, Müller
C, Pratt V, Salden I, Scheffer H, Stambergova A, Wallace
A, Wilson JA, Zoccoli M, Matthijs G: Towards practical
guidelines for validation of genetic diagnostic tests.
European Journal of Human Genetics 2008;16 Suppl 2:430 |
- |
- |
CMGS |
Mattocks
C: Potential for diagnostic application of
new sequencing technologies.
NB a ppt version of this download is provided to
allow viewing of the presentation with animations.
Access open as ‘read only’.
|
(0.6MB) |
(1.3MB) |
Human
Genetics Commission 31st Plenary Meeting |
White
H: “Non – invasive
Prenatal Diagnosis Technical Challenges and Advances” |
(0.3MB) |
- |
European
Society of Hematology 2008 |
White
H:“Progress
towards establishing BCR-ABL reference reagents”. |
(0.3MB) |
- |
|
White
HE,
Hochhaus A, Müller M, Saglio G, Branford S,
Hughes T, Gabert J, Wang YL, WalkerPeach C,
Metcalfe P, Cross NCP: “Development
of prototype reference reagents for BCR-ABL quantitative
RT-PCR” |
(0.4MB) |
- |
Wessex
Ante-Natally Detected Anomalies Register (WANDA) Meeting
2008 |
White
H:“Non-invasive
testing for Down’s syndrome - a simple blood test?” |
(0.2MB) |
- |
2007
Meeting
|
Title |
pdf |
ppt |
BSHG |
Yearwood
C, Schijvenaars M, Ward D, Mattocks C, Harvey
J: Marfan syndrome: CSCE as a rapid sensitive
technique for screening the FBN1 gene: J Med Genet 2007;
44 Suppl 1:S80
|
|
- |
|
Hammond
VN, Gerty SM, Sillibourne J, Ward D, Mattocks
C, Simmonds P, Graham N, Armstrong M, Ecles
DM: Inherited mutations in BRCA1 are much more frequent
than in BRCA2 amoungst young breast cancer cases. J Med
Genet 2007; 44 Suppl 1:S132 |
- |
- |
|
Wallace
A, Barton D, van Bunderen PA, Duncan J, Dunlop J, Man
S, MacPherson J, Monaghan G, McLuskey J, Norbury G, Patel
Y, Powell H, Race V, Sweerney M, Thompson E, treacy R,
Weiss MM, Williams N, White HE, Wymer
B: A multicentre technology assessment of the Abbott
fragile X assay. J Med Genet 2007; 44 Suppl 1:S86 |
- |
- |
qPCR
2007 (March 2007, Munich) |
White
H:“Potential applications of high resolution melt curve analysis for genetic
diagnostics” |
(0.2MB) |
- |
Institute
for Reference Materials and Measurements Sept 2007 |
White
H:” Reference
reagents for genetic testing: development of plasmid
based mutation detection reagents by the UK National
Genetics Reference Laboratory
(Wessex)”. |
(0.6MB) |
- |
Roche
User Group Meeting Oct 2007 |
White H:“ High resolution melting:
potential applications for genetic diagnostics”. |
(0.5MB) |
- |
2006
Meeting
|
Title |
pdf |
ppt |
SCOBEC
training day |
White
H: “New
techniques for DNA methylation analysis" |
(1.3MB) |
|
BSHG |
Croft
M, Crolla J, Differ AM, Burville-Holmes
L, Maloney V, Turnpenny PD. Case report:
Deletion 3q22.1-q23 with BPES and an AHO-like brachydactyly
phenotype. J Med Genet 2006; 43 Suppl 1:S50 |
- |
- |
|
Hall
VJ, Maloney VK, White HE, Liehr T, Volleth M, Barber
JCK. The use of pyrosequencing to identify copy
number variation of 16p11.2 in euchromatic variant carriers
and the normal population. J Med Genet 2006; 43 Suppl
1:S98 |
(0.2MB) |
- |
|
Mattocks
CJ, Ward D, Harvey JF, Cross NCP.
Design and optimisation of a validated primer set for
automated screening of the BRCA1 and BRCA2 genes. J Med
Genet 2006; 43 Suppl 1:S73 |
(0.4MB) |
- |
|
Mattocks
C, Ward D, Sillibourne J, Herbert T, Owen
N, Wall M, Goddard P, Harvey JF, Cross
NCP. Implementation of the SCOBEC high throughput
screening facility. J Med Genet 2005; 42 Suppl 1:S90 |
(1MB) |
- |
|
Pearce
B, Watts K, Maloney VK, Boyle T, Collinson
M, Barber J. Insertion or inversion: that
is the question. J Med Genet 2006; 43 Suppl 1:S99 |
(0.2MB) |
- |
|
Tatton
Brown K, Barber J, Donaghue C, Maloney
VK, Marks K, Tomkins S, Waits P, Rahman N, McEntagart
M. A family with overgrowth associate with partial trisomy
15q. J Med Genet 2006; 43 Suppl 1:S52 |
- |
- |
|
White
HE, Potts GL, Cross NCP. NGRL (Wessex) evaluation
of high resolution melt curve analysis for mutation scanning.
J Med Genet 2006; 43 Suppl 1:S85 |
(0.3MB) |
- |
|
White
HE, Potts GL, Hall VJ, Owen N, Mattocks CJ, Cross NCP.
Reference reagents for mutation scanning: development
of plasmid based reagents by NGRL (Wessex). J Med Genet
2005; 42 Suppl 1:S85 |
(0.2MB) |
- |
|
White HE, Hall VJ,
Boyle T, Warner J, McLuskey J, Sibbring J, Hamilton S,
Diack J, Allen S, Jones M, Cross NCP.
NGRL (Wessex) evaluation of CE marked in vitro diagnostic
test kits for prenatal diagnosis of aneuploidy. J Med
Genet 2006; 43 Suppl 1:S91 |
(0.3MB) |
- |
10th
International Symposium on Biological and Environmental
Reference Materials |
White HE, Durston VJ, Potts
GL, Harvey JF, Hawkins R, Stacey G, Cross
NCP. Reference Reagents for Genetic Testing:
Development of plasmid based mutation detection reagents
by NGRL (Wessex) |
(0.3MB) |
- |
CMGS |
White
HE, Taylor GR, Potts GL, Cross
NCP, Taylor C. Evaluation of high resolution
melt analysis for mutation scanning. |
(0.5MB) |
- |
|
Campbell
JK, White H, Pagan J, Godfrey C, Mein
R, Moore D, Abbs S. Using the Reveal Genetic Mutation Discovery
System (Spectrumedix) for mutation screening in a diagnostic
laboratory. |
(1.1MB) |
- |
|
Coupe
AM, Thomas S, Mackay D, Bullman H, Harvey J.
Analysis of a cohort of Russell Silver Syndrome patients
for epigenetic changes at the H19DMR and KvDMR loci at
11p15. |
(0.3MB) |
- |
NGRL
(Wessex) High throughput implementation day |
Mattocks C: Batching for high throughput PCR setup.
NB a ppt version of this download is provided to allow
viewing of the presentation with animations. Access open
as ‘read only’. |
(1MB) |
(2.4MB) |
|