Michael E Cheetham
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Explore the profile of Michael E Cheetham including associated specialties, affiliations and a list of published articles.
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146
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9877
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Recent Articles
1.
Corral-Serrano J, Vaclavik V, Van de Sompele S, Kaminska K, Jovanovic K, Escher P, et al.
Hum Mol Genet
. 2025 Mar;
PMID: 40037334
Inherited retinal dystrophies (IRDs) are characterized by their high clinical and genetic heterogeneity. Despite significant advances in the identification of genes associated with IRDs, many individuals and families still have...
2.
Whitehead M, Harvey J, Sladen P, Becchi G, Singh K, Sun Y, et al.
Acta Neuropathol Commun
. 2025 Feb;
13(1):28.
PMID: 39948685
Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterised by the selective loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic...
3.
Athanasiou D, Afanasyeva T, Chai N, Ziaka K, Jovanovic K, Guarascio R, et al.
Acta Neuropathol Commun
. 2025 Feb;
13(1):26.
PMID: 39934925
Bialleleic pathogenic variants in LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report the...
4.
Guarascio R, Cheetham M
Adv Exp Med Biol
. 2025 Feb;
1468:247-251.
PMID: 39930204
In age-related macula dystrophy (AMD) and some forms of inherited retinal dystrophies (IRDs), blindness is caused by the loss of photoreceptors and retinal pigment epithelium (RPE) cells. This process can...
5.
Gardner J, Jovanovic K, Ottaviani D, Melo U, Jackson J, Guarascio R, et al.
Am J Hum Genet
. 2025 Feb;
112(3):523-536.
PMID: 39892393
In two unrelated families with X-linked inherited retinal dystrophy, identification of the causative variants was elusive. Interrogation of the next-generation sequencing (NGS) data revealed a "dark" intergenic region on Xq27.1...
6.
de Bruijn S, Panneman D, Weisschuh N, Cadena E, Boonen E, Holtes L, et al.
Front Genet
. 2024 Nov;
15:1469686.
PMID: 39507620
Introduction: Autosomal dominant retinitis pigmentosa type 17 (adRP, type RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome 17 (chr17q22). The SVs disrupt the 3D regulatory...
7.
Zarouchlioti C, Efthymiou S, Facchini S, Dominik N, Bhattacharyya N, Liu S, et al.
EBioMedicine
. 2024 Sep;
108:105328.
PMID: 39278108
Background: Fuchs endothelial corneal dystrophy (FECD) is the most common repeat-mediated disease in humans. It exclusively affects corneal endothelial cells (CECs), with ≤81% of cases associated with an intronic TCF4...
8.
Braddock F, Gardner J, Bhattacharyya N, Sanchez-Pintado B, Costa M, Zarouchlioti C, et al.
Eur J Hum Genet
. 2024 Aug;
32(12):1583-1589.
PMID: 39169229
Corneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a...
9.
Bhattacharyya N, Chai N, Hafford-Tear N, Sadan A, Szabo A, Zarouchlioti C, et al.
PLoS Genet
. 2024 May;
20(5):e1011230.
PMID: 38713708
Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up to 80% of European FECD...
10.
Piccolo D, Zarouchlioti C, Bellingham J, Guarascio R, Ziaka K, Molday R, et al.
Int J Mol Sci
. 2024 Apr;
25(8).
PMID: 38674104
ABCA4-related retinopathy is the most common inherited Mendelian eye disorder worldwide, caused by biallelic variants in the ATP-binding cassette transporter ABCA4. To date, over 2200 ABCA4 variants have been identified,...