Jessica C Gardner
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Explore the profile of Jessica C Gardner including associated specialties, affiliations and a list of published articles.
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17
Citations
626
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Recent Articles
1.
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...
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.
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...
4.
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...
5.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan A, Stingl K, et al.
Proc Natl Acad Sci U S A
. 2022 Jun;
119(27):e2115538119.
PMID: 35759666
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor...
6.
Patterson E, Kalitzeos A, Kasilian M, Gardner J, Neitz J, Hardcastle A, et al.
Invest Ophthalmol Vis Sci
. 2018 Aug;
59(10):4238-4248.
PMID: 30128495
Purpose: To assess residual cone structure in subjects with mutations in exon 2, 3, and 4 of the OPN1LW or OPN1MW opsin. Methods: Thirteen males had their OPN1LW/OPN1MW opsin genes...
7.
Fiorentino A, Fujinami K, Arno G, Robson A, Pontikos N, Arasanz Armengol M, et al.
Hum Mutat
. 2017 Oct;
39(1):80-91.
PMID: 28967191
Retinal dystrophies are a heterogeneous group of disorders of visual function leading to partial or complete blindness. We report the genetic basis of an unusual retinal dystrophy in five families...
8.
Patterson E, Wilk M, Langlo C, Kasilian M, Ring M, Hufnagel R, et al.
Invest Ophthalmol Vis Sci
. 2016 Jul;
57(8):3853-63.
PMID: 27447086
Purpose: Mutations in the coding sequence of the L and M opsin genes are often associated with X-linked cone dysfunction (such as Bornholm Eye Disease, BED), though the exact color...
9.
Gardner J, Liew G, Quan Y, Ermetal B, Ueyama H, Davidson A, et al.
Hum Mutat
. 2014 Aug;
35(11):1354-62.
PMID: 25168334
Mutations in the OPN1LW (L-) and OPN1MW (M-)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22...
10.
Davidson A, Cheong S, Hysi P, Venturini C, Plagnol V, Ruddle J, et al.
PLoS One
. 2014 Aug;
9(8):e104163.
PMID: 25093588
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1...