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Helen White

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David O Robinson; Helen E White; J Clayton-Smith; H Cox; E Cross; F Lin; M Lyon; M Raponi; Diana Baralle
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
Helen E White; John A Crolla; Carolyn L Dent; Victoria J Hall; Lyn S Chitty
Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis.
Amy V Jones; Nicholas C P Cross; Helen E White; Anthony R Green; Linda Maree SCOTT
Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis.

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All Publications

2012: David O Robinson; Helen E White; J Clayton-Smith; H Cox; E Cross; F Lin; M Lyon; M Raponi; Diana Baralle
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
Clinical genetics 2012;82(3):223-31.
2012: Helen E White; John A Crolla; Carolyn L Dent; Victoria J Hall; Lyn S Chitty
Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis.
PloS one 2012;7(9):e45073.
2008: Amy V Jones; Nicholas C P Cross; Helen E White; Anthony R Green; Linda Maree SCOTT
Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis.
Haematologica 2008;93(10):1560-4.
2007: Helen E White; Victoria J Hall; Nicholas C P Cross
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(11):1960-2.
2006: Deborah J G Mackay; S E Boonen; J Clayton-Smith; J Goodship; Johanne M D Hahnemann; Sarina G Kant; Pål R Njølstad; Nathaniel H Robin; David O Robinson; R Siebert; Julian P H Shield; Helen E White; I Karen Temple
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.
Human genetics 2006;120(2):262-9.
2006: Helen E White; Victoria J Durston; John F Harvey; Nicholas C P Cross
Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.
Clinical chemistry 2006;52(6):1005-13.
2006: Deborah J G Mackay; Johanne M D Hahnemann; S E Boonen; S Poerksen; David J Bunyan; Helen E White; Victoria J Durston; N Simon Thomas; David O Robinson; Julian P H Shield; J Clayton-Smith; I Karen Temple
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.
Human genetics 2006;119(1-2):179-84.
2006: Ellen R Copson; Helen E White; Jeremy P Blaydes; David O Robinson; Peter WM Johnson; Diana Eccles
Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers.
BMC cancer 2006;6():80.
2005: Helen E White; Victoria J Durston; Anneke Seller; Carl Fratter; John F Harvey; Nicholas C P Cross
Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.
Genetic testing 2005;9(3):190-9.