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Genetic Testing|July 26, 2008
Multiple de novo mutations in the MECP2 geneDavid J Bunyan, David O Robinson
European Journal of Medical Genetics|May 12, 2019
Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutationsDavid J Bunyan, N Simon Thomas
Molecular Biotechnology|April 17, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin geneDavid J Bunyan, Alison C Skinner, Emma J Ashton, et al.
Journal of Reproduction & Infertility|August 9, 2013
Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification AssayDavid J Bunyan, Jonathan L A Callaway, Nadja Laddach
American Journal of Medical Genetics. Part A|August 16, 2014
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effectDavid J Bunyan, Emma-Jane Taylor, Vivienne K Maloney, et al.
Clinical Neurology and Neurosurgery|March 25, 2008
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP)Eleanor A Marsh, David O Robinson
American Journal of Medical Genetics. Part A|May 3, 2013
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effectDavid J Bunyan, Kevin R Baker, John F Harvey, et al.
Kidney International|November 28, 2008
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosisRodney D Gilbert, Claire L S Turner, Jane Gibson, et al.
Genetics Research|January 30, 2014
Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variantJane Gibson, Rodney D Gilbert, David J Bunyan, et al.
Human Genetics|November 19, 2002
A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genesXiayi Ke, N Simon Thomas, David O Robinson, et al.
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