Chris F Inglehearn
Overview
Explore the profile of Chris F Inglehearn including associated specialties, affiliations and a list of published articles.
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127
Citations
3828
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Recent Articles
11.
Panneman D, Hitti-Malin R, Holtes L, de Bruijn S, Reurink J, Boonen E, et al.
Front Cell Dev Biol
. 2023 Feb;
11:1112270.
PMID: 36819107
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A...
12.
Mc Clinton B, Corradi Z, McKibbin M, Panneman D, Roosing S, Boonen E, et al.
Genes (Basel)
. 2023 Jan;
14(1).
PMID: 36672932
Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs)...
13.
Inglehearn C, Yahya S, Smith C, Poulter J, Ali M, Toomes C, et al.
Ophthalmology
. 2022 Nov;
130(3):e9-e10.
PMID: 36400608
No abstract available.
14.
Van de Sompele S, Small K, Cicekdal M, Lopez Soriano V, Dhaene E, Shaya F, et al.
Am J Hum Genet
. 2022 Oct;
109(11):2029-2048.
PMID: 36243009
North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting macular development. The disease is caused by non-coding single-nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by...
15.
Yahya S, Smith C, Poulter J, McKibbin M, Arno G, Ellingford J, et al.
Ophthalmology
. 2022 Aug;
130(1):68-76.
PMID: 35934205
Purpose: To characterize the phenotype observed in a case series with macular disease and determine the cause. Design: Multicenter case series. Participants: Six families (7 patients) with sporadic or multiplex...
16.
El-Asrag M, Corton M, McKibbin M, Avila-Fernandez A, Mohamed M, Blanco-Kelly F, et al.
Mol Vis
. 2022 Jun;
28:48-56.
PMID: 35693422
Purpose: To describe the clinical phenotype and genetic basis of non-syndromic retinitis pigmentosa (RP) in one family and two sporadic cases with biallelic mutations in the transcription factor neural retina...
17.
Panagiotou E, Fernandez-Fuentes N, Farraj L, McKibbin M, Elcioglu N, Jafri H, et al.
Mol Vis
. 2022 Jun;
28:57-69.
PMID: 35693420
Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. Methods: Conventional autozygosity mapping was...
18.
Best S, Inglehearn C, Watson C, Toomes C, Wheway G, Johnson C
Am J Med Genet C Semin Med Genet
. 2022 Mar;
190(1):5-8.
PMID: 35289502
No abstract available.
19.
Taylor R, Soriano C, Williams S, Dzulova D, Ashworth J, Hall G, et al.
Orphanet J Rare Dis
. 2022 Mar;
17(1):110.
PMID: 35246174
Background: Inherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically and genetically heterogeneous group of disorders that can have a major impact on vision....
20.
Al-Amri A, Armstrong P, Amici M, Ligneul C, Rouse J, El-Asrag M, et al.
Biol Psychiatry
. 2022 Mar;
92(4):323-334.
PMID: 35227461
Background: The discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability. Methods: Homozygosity...