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David J Bunyan

Explore the profile of David J Bunyan including associated specialties, affiliations and a list of published articles. Areas
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Articles 38
Citations 982
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Recent Articles
1.
Watts L, Bunyan D, Giacopuzzi E, Walker S, Gazdagh G, Thomas N, et al.
Brain Commun . 2024 Oct; 6(5):fcae330. PMID: 39386087
No abstract available.
2.
Oquendo C, Wai H, Rich W, Bunyan D, Thomas N, Hunt D, et al.
Genome Med . 2024 Sep; 16(1):110. PMID: 39252027
Background: RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA-seq enables the identification of aberrant splicing...
3.
Lord J, Oquendo C, Wai H, Douglas A, Bunyan D, Wang Y, et al.
Hum Genet . 2024 Jan; PMID: 38170232
Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing are needed to...
4.
Bunyan D, Hobbs J, Duncan-Flavell P, Howarth R, Beal S, Baralle D, et al.
Cytogenet Genome Res . 2023 Mar; 162(11-12):587-598. PMID: 36927524
Transcription of SHOX is dependent upon the interaction of the gene with a complex array of flanking regulatory elements. Duplications that contain flanking regulatory elements but not the SHOX gene...
5.
Bunyan D, Saran M, Hobbs J, Anderson D, Duncan-Flavell P, Howarth R, et al.
J Reprod Infertil . 2022 Dec; 23(4):296-302. PMID: 36452190
Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the additional Y chromosome may cause disrupted...
6.
Seaby E, Turner S, Bunyan D, Seyed-Rezai F, Essex J, Gilbert R, et al.
Clin Genet . 2022 Sep; 103(2):214-218. PMID: 36148635
Renal Fanconi syndrome (RFS) is a generalised disorder of the proximal convoluted tubule. Many genes have been associated with RFS including those that cause systemic disorders such as cystinosis, as...
7.
Edgerley K, Barnicoat A, Offiah A, Calder A, Mankad K, Thomas N, et al.
Am J Med Genet A . 2021 Jan; 185(4):1228-1235. PMID: 33439541
Spondylometaphyseal dysplasia with cerebral hypomyelination (SMD-H) is a very rare but distinctive phenotype, unusually combining spondylometaphyseal dysplasia with hypomyelinating leukodystrophy. Recently, SMD-H has been associated with variants confined to a...
8.
Cross E, Duncan-Flavell P, Howarth R, Hobbs J, Thomas N, Bunyan D
Am J Med Genet A . 2020 Aug; 182(11):2508-2520. PMID: 32827181
Pathogenic variants within the CREBBP and EP300 genes account for the majority of individuals with Rubinstein-Taybi syndrome (RSTS). Data are presented from a large cohort of 395 individuals referred for...
9.
Cross E, Duncan-Flavell P, Howarth R, Crooks R, Thomas N, Bunyan D
Eur J Med Genet . 2020 May; 63(7):103940. PMID: 32360764
Pathogenic variants within PAX6 are most often associated with aniridia, but have been linked with other phenotypes such as nystagmus, cataracts and foveal hypoplasia. Data are presented from a large...
10.
Kirk B, Kharbanda M, Bateman M, Hunt D, Taylor E, Collins A, et al.
Cytogenet Genome Res . 2020 Apr; 160(4):185-192. PMID: 32316019
A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter...