Eric A Pierce
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Explore the profile of Eric A Pierce including associated specialties, affiliations and a list of published articles.
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117
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6160
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Recent Articles
1.
Ehrenberg M, Avraham M, Asodu S, Moye A, Sangermano R, Rizel L, et al.
Genet Med
. 2025 Mar;
:101401.
PMID: 40079362
Purpose: To identify the genetic cause for disease in individuals affected with inherited retinal disease (IRD), to characterize their retinal phenotype and the properties of the underlying gene. Methods: Participants...
2.
Sangermano R, Place E, Pierce E, Bujakowska K
Adv Exp Med Biol
. 2025 Feb;
1468:41-44.
PMID: 39930170
Inherited retinal degenerations (IRDs) are a group of Mendelian disorders characterized by progressive dysfunction and loss of rod and/or cone photoreceptors. The most common IRD is rod-cone degeneration (RCD, also...
3.
Tachida Y, Manian K, Butcher R, Levy J, Pendse N, Hennessey E, et al.
Mol Ther
. 2025 Jan;
PMID: 39881543
Base editing shows promise for the correction of human mutations at a higher efficiency than other repair methods and is especially attractive for mutations in large genes that are not...
4.
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...
5.
Cerna-Chavez R, Ortega-Gasco A, Azhar Baig H, Ehrenreich N, Metais T, Scandura M, et al.
Int J Mol Sci
. 2025 Jan;
26(1.
PMID: 39795970
Prime editing (PE) is a CRISPR-based tool for genome engineering that can be applied to generate human induced pluripotent stem cell (hiPSC)-based disease models. PE technology safely introduces point mutations,...
6.
Stenton S, Laricchia K, Lake N, Chaluvadi S, Ganesh V, DiTroia S, et al.
medRxiv
. 2025 Jan;
PMID: 39763565
Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is...
7.
Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, et al.
NPJ Genom Med
. 2024 Nov;
9(1):58.
PMID: 39516462
Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected...
8.
Malka S, Biswas P, Berry A, Sangermano R, Ullah M, Lin S, et al.
Am J Hum Genet
. 2024 Aug;
111(9):2012-2030.
PMID: 39191256
Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the...
9.
Pierce E, Ashimatey B, Jayasundera T, Hoyng C, Lam B, Lorenz B, et al.
Ophthalmol Sci
. 2024 Jun;
4(5):100483.
PMID: 38881603
Purpose: To define the clinical characteristics of centrosomal protein 290 ()-associated inherited retinal degeneration (IRD) and determine which assessments may provide reliable endpoints in future interventional trials. Design: Participants in...
10.
Wojcik M, Lemire G, Berger E, Zaki M, Wissmann M, Win W, et al.
N Engl J Med
. 2024 Jun;
390(21):1985-1997.
PMID: 38838312
Background: Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains...