Chris F Inglehearn
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Explore the profile of Chris F Inglehearn including associated specialties, affiliations and a list of published articles.
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127
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3828
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Recent Articles
1.
Moekotte L, de Boer J, Hiddingh S, de Ligt A, Nguyen X, Hoyng C, et al.
Invest Ophthalmol Vis Sci
. 2025 Feb;
66(2):55.
PMID: 39982393
Purpose: To determine the profile of inflammation-related proteins and complement system factors in the plasma of CRB1-associated inherited retinal dystrophies (CRB1-IRDs). Methods: We used the Olink Explore 384 Inflammation II...
2.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn S, Iglesias-Romero A, et al.
medRxiv
. 2025 Jan;
PMID: 39830270
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the...
3.
Basu B, Karwatka M, China B, McKibbin M, Khan K, Inglehearn C, et al.
J Biol Chem
. 2024 Jul;
300(8):107569.
PMID: 39009342
Loss of glycogen myophosphorylase (PYGM) expression results in an inability to break down muscle glycogen, leading to McArdle disease-an autosomal recessive metabolic disorder characterized by exercise intolerance and muscle cramps....
4.
Atkinson R, Georgiou M, Yang C, Szymanska K, Lahat A, Vasconcelos E, et al.
Nat Commun
. 2024 Apr;
15(1):3138.
PMID: 38605034
The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity...
5.
Hitti-Malin R, Panneman D, Corradi Z, Boonen E, Astuti G, Dhaenens C, et al.
Biomolecules
. 2024 Mar;
14(3).
PMID: 38540785
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion...
6.
Smith C, Laugel-Haushalter V, Hany U, Best S, Taylor R, Poulter J, et al.
J Med Genet
. 2024 Mar;
61(7):689-698.
PMID: 38458752
Background: Plexins are large transmembrane receptors for the semaphorin family of signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages....
7.
Hany U, Watson C, Liu L, Smith C, Harfoush A, Poulter J, et al.
J Med Genet
. 2023 Nov;
61(4):347-355.
PMID: 37979963
Background: Collagen XVII is most typically associated with human disease when biallelic variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI),...
8.
Yahya S, Watson C, Carr I, McKibbin M, Crinnion L, Taylor M, et al.
Mol Diagn Ther
. 2023 Jun;
27(4):525-535.
PMID: 37284979
Introduction: RPGR ORF15 is an exon present almost exclusively in the retinal transcript of RPGR. It is purine-rich, repetitive and notoriously hard to sequence, but is a hotspot for mutations...
9.
McClinton B, Watson C, Crinnion L, McKibbin M, Ali M, Inglehearn C, et al.
Lab Invest
. 2023 Apr;
103(8):100160.
PMID: 37088464
Short-read next-generation sequencing has revolutionized our ability to identify variants underlying inherited diseases; however, it does not allow the phasing of variants to clarify their diagnostic interpretation. The advent of...
10.
McClinton B, Crinnion L, McKibbin M, Mukherjee R, Poulter J, Smith C, et al.
Mol Genet Genomic Med
. 2023 Mar;
11(6):e2164.
PMID: 36934458
Background: The widespread adoption of exome sequencing has greatly increased the rate of genetic diagnosis for inherited conditions. However, the detection and validation of large deletions remains challenging. While numerous...