Graeme C M Black
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Explore the profile of Graeme C M Black including associated specialties, affiliations and a list of published articles.
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95
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4341
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Recent Articles
1.
Jedlickova J, Vajter M, Barta T, Black G, Perveen R, Mares J, et al.
Clin Genet
. 2023 Jun;
104(4):418-426.
PMID: 37321975
Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant...
2.
Julian T, Cooper-Knock J, Macgregor S, Guo H, Aslam T, Sanderson E, et al.
Elife
. 2023 Jan;
12.
PMID: 36705323
Background: Age-related macular degeneration (AMD) is a leading cause of blindness in the industrialised world and is projected to affect >280 million people worldwide by 2040. Aiming to identify causal...
3.
Sallah S, Sergouniotis P, Hardcastle C, Ramsden S, Lotery A, Lench N, et al.
J Mol Diagn
. 2022 Oct;
24(12):1232-1239.
PMID: 36191840
Small in-frame insertion-deletion (indel) variants are a common form of genomic variation whose impact on rare disease phenotypes has been understudied. The prediction of the pathogenicity of such variants remains...
4.
Jalil A, Ivanova T, Moussa G, Parry N, Black G
Eye (Lond)
. 2022 Sep;
37(9):1874-1877.
PMID: 36163489
Background: Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We illustrate, both the benefits and pitfalls associated with ocular gene...
5.
Mcharg S, Booth L, Perveen R, Riba Garcia I, Brace N, Bayatti N, et al.
Proc Natl Acad Sci U S A
. 2022 May;
119(20):e2118510119.
PMID: 35561216
Age-related macular degeneration (AMD) is a leading cause of visual loss. It has a strong genetic basis, and common haplotypes on chromosome (Chr) 1 (CFH Y402H variant) and on Chr10...
6.
Rowlands C, Taylor A, Rice G, Whiffin N, Hall H, Newman W, et al.
Am J Hum Genet
. 2022 Jan;
109(2):210-222.
PMID: 35065709
Variable levels of gene expression between tissues complicates the use of RNA sequencing of patient biosamples to delineate the impact of genomic variants. Here, we describe a gene- and tissue-specific...
7.
Rowlands C, Thomas H, Lord J, Wai H, Arno G, Beaman G, et al.
Sci Rep
. 2021 Oct;
11(1):20607.
PMID: 34663891
The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus...
8.
Poulter J, Gravett M, Taylor R, Fujinami K, De Zaeytijd J, Bellingham J, et al.
Hum Mutat
. 2020 Nov;
42(2):164-176.
PMID: 33252155
Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease...
9.
Catarino C, von Livonius B, Priglinger C, Banik R, Matloob S, Tamhankar M, et al.
J Neuroophthalmol
. 2020 Sep;
40(4):558-565.
PMID: 32991388
Background: Leber hereditary optic neuropathy (LHON) leads to bilateral central vision loss. In a clinical trial setting, idebenone has been shown to be safe and to provide a trend toward...
10.
Sallah S, Sergouniotis P, Barton S, Ramsden S, Taylor R, Safadi A, et al.
Eur J Hum Genet
. 2020 Apr;
28(9):1274-1282.
PMID: 32313206
Advances in DNA sequencing technologies have revolutionised rare disease diagnostics and have led to a dramatic increase in the volume of available genomic data. A key challenge that needs to...