||Professional training in bioinformatics and next generation sequencing.
||Utilising the 1000 Genomes project data in diagnostic genetics.
||Evaluating missense variants.
||Unique : Providing Information Guides to rare chromosome disorders - a free resource for families and professionals available in many languages.
||A 2.3kb whole gene deletion of FOXG1 detected using the BlueGnome Cytochip ISCA (v2.0) 8x60k oligo array.
||22q11 Microdeletion Syndrome: 2 Cases presenting with rare, distal deletion.
||Sally A Spillane
||Unite and Conquer: An integrated approach to unravelling an unusual abnormality.
||Clinical interpretation of Copy Number Variants (CNVs): Assessment of Current Follow-up Policy.
||High frequency of inherited NRXN1 deletions - a diagnostic dilemma.
||Axenfeld-Rieger Syndrome: High resolution microarray analysis of 4 unrelated PITX2 microdeletion patients.
||Fiona Sara Togneri
||A multidisciplinary approach to elucidating the extent and nature of a complex mix of genomic aberrations.
||Further association of Goldenhar syndrome and 22q11.2 distal deletion syndrome: a case report.
||Mutation analysis of the HDAC4 gene in patients with brachydactyly, mental retardation and behavioural problems using DNA sequencing and array CGH.
||A Series of Leukaemia Patients with Variant Cytogenetic Abnormalities.
||Enrichment of CD138 positive plasma cells using immunomagnetic cell selection to enhance diagnostic sensitivity of FISH in Myeloma.
||A rare finding in a Submandibular Lymphoma.
||Detection and interpretation of low level JAK2 V617F mutations.
||Refining risk in paediatric B-cell ALL: Detection of genetic determinants associated with outcome and molecular characterisation of clonal rearrangements at the immunoglobulin receptor loci using a next generation sequencing strategy.
||Genetic profiling of AML/MDS to define pre treatment genomic variation and aid clinical risk stratification.
||Evaluation of a Multiplex CE-Marked Diagnostic Device for Efficient Diagnosis and Classification of Acute Myeloid Leukemia.
||A comparison of commercially available analysis software (ChimerMarkerTM) versus in-house Excel-based methodology for the semi-quantitative analysis of donor chimaerism using microsatellite markers post-stem cell transplant.
||A rare t(1;6) translocation in a patient diagnosed with Thymoma. A case study and literature review.
||Case report: Hereditary Pancreatitis caused by gain of a hybrid PRSS1/ PRSS2 gene.
||Motor neuron disease: A novel repeat expansion disorder.
||A diagnostic test for the frontotemporal dementia / amyotrophic lateral sclerosis (GGGGCC)n expansion in C9orf72.
||MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
||False negative results for myotonic dystrophy type 1 and 2 using TP-PCR.
||A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase gamma sununits.
||The need for high quality DNA samples: false negative FSHD results due to poor DNA sample quality.
||The Impact of the Introduction of Automated Karyotyping on the Wessex Regional Genetics Laboratory (WRGL).
||Evaluation of high throughput systems for detection of somatic mutations in tumour samples: comparison of Next Generation Sequencing and Sequenom OncoCarta Mass Spectrometry platforms.
||VPS33B and VIPAR gene analysis in Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome: a review of results so far.
||A new rapid service for COL2A1 or FGFR3 related skeletal dysplasias.
||Audit of ALMS1 gene screening in Alstrom syndrome patients.
||WFS1-related disorders: an overview of the WMRGL service.
||Cockayne Syndrome Testing at BGL– a new service and case study.
||Design and Implementation of Next Generation Sequencing Diagnostic Services for Inherited Colorectal Cancer.
||First Trimester Screening: A Cytogenetics Perspective.
||Prenatal diagnosis of Pallister-Killian syndrome using a combination of microarray analysis, conventional cytogenetics and FISH.
||Evaluation of a novel PCR assay for the detection of the universal fetal DNA marker RASSF1A for use in clinical practice: facilitating improved diagnostic reliability of non-invasive prenatal diagnosis.
||Development of digital PCR for free fetal DNA analysis and application to Non-Invasive Prenatal Diagnosis of an X-linked monogenic disorder.
||A West Midlands region audit of the incidence of chromosomally unbalanced pregnancies in recurrent miscarriage couples who have been found to have a relevant chromosome rearrangement following karyotyping.
||Fetal sexing by free fetal DNA analysis – WMRGL experience of service validation and two years of diagnostic testing.
||Prenatal testing for Beckwith-Wiedemann syndrome (BWS).
||Molecular Cytogenetic analysis of Complete and Partial Hydatidiform Molar Pregnancies: Four clinical examples and Recommendations for Genetic Diagnosis using a QF-PCR rapid aneuploidy testing kit.