Stephen P Daiger
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Explore the profile of Stephen P Daiger including associated specialties, affiliations and a list of published articles.
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80
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2686
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Recent Articles
1.
Branham K, Samarakoon L, Audo I, Ayala A, Cheetham J, Daiger S, et al.
Invest Ophthalmol Vis Sci
. 2025 Feb;
66(2):12.
PMID: 39908130
Purpose: The Foundation Fighting Blindness (FFB) Consortium is a collaboration of 41 international clinical centers that manage patients affected with inherited retinal diseases (IRDs). The annual Consortium gene poll was...
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.
Duncan J, Bowman A, Laster A, Gelfman C, Birch D, Boye S, et al.
Transl Vis Sci Technol
. 2024 Dec;
13(12):28.
PMID: 39688851
Inherited retinal degeneration (IRD) disease and age-related macular degeneration (AMD) are leading causes of irreversible vision loss and blindness. Although significant progress has advanced the field in the past 5...
4.
Daiger S, Sullivan L, Cadena E, Bowne S
Cold Spring Harb Perspect Med
. 2023 Oct;
14(9).
PMID: 37788881
This is a brief history of the work by many investigators throughout the world to find genes and mutations causing inherited retinal diseases (IRDs). It largely covers 40 years, from...
5.
Birch D, Cheetham J, Daiger S, Hoyng C, Kay C, MacDonald I, et al.
Transl Vis Sci Technol
. 2023 Jun;
12(6):5.
PMID: 37294701
Translational Relevance: Examination of relevant data and recommendations for the successful clinical development of gene therapies for RPGR-associated XLRP.
6.
Sangermano R, Biswas P, Sullivan L, Place E, Borooah S, Straubhaar J, et al.
Cold Spring Harb Mol Case Stud
. 2022 Nov;
8(7).
PMID: 36376065
A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously...
7.
Langouet M, Jolicoeur C, Javed A, Mattar P, Gearhart M, Daiger S, et al.
Sci Adv
. 2022 Sep;
8(36):eabh2868.
PMID: 36070393
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show...
8.
Hufnagel R, Liang W, Duncan J, Brewer C, Audo I, Ayala A, et al.
Hum Mutat
. 2022 Mar;
43(5):613-624.
PMID: 35266249
We assessed genotype-phenotype correlations among the visual, auditory, and olfactory phenotypes of 127 participants with Usher syndrome (USH2) (n =80) or nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) (n = 47)...
9.
Cogne B, Latypova X, Senaratne L, Martin L, Koboldt D, Kellaris G, et al.
Am J Hum Genet
. 2020 May;
106(6):893-904.
PMID: 32386558
Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus...
10.
Hejtmancik J, Daiger S
Proc Natl Acad Sci U S A
. 2020 Feb;
117(8):3904-3906.
PMID: 32034100
No abstract available.