Emma C Bedoukian
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Explore the profile of Emma C Bedoukian including associated specialties, affiliations and a list of published articles.
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27
Citations
229
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Recent Articles
1.
Aleman T, Roman A, Uyhazi K, Jiang Y, Bedoukian E, Sumaroka A, et al.
Invest Ophthalmol Vis Sci
. 2024 Dec;
65(14):30.
PMID: 39693083
Purpose: The purpose of this study was to determine the natural history of the photoreceptor disease in a large group of pediatric patients with RHD12-associated Leber congenital amaurosis (RDH12-LCA), to...
2.
Bedoukian E, Forbes G, Scoles D
JAMA Ophthalmol
. 2024 Aug;
142(9):874-878.
PMID: 39145965
Importance: Previous studies have identified familial exudative vitreoretinonpathy (FEVR) in patients with CTNNB1 syndrome based on severe congenital ocular phenotypes. However, ophthalmoscopy may not be sufficient to detect vision-threatening vitreoretinopathy...
3.
Cohen D, Sumaroka A, Paulos J, Mitchell T, Santos A, ONeil E, et al.
Am J Ophthalmol Case Rep
. 2024 Aug;
36:102098.
PMID: 39109318
Purpose: To describe the retinal phenotype of an unusual case of anti-TRPM1 autoantibody-positive unilateral melanoma-associated retinopathy (MAR) triggered by nivolumab therapy and compare with the phenotype of -associated Congenital Stationary...
4.
Igelman A, White E, Tayyib A, Everett L, Vincent A, Heon E, et al.
Br J Ophthalmol
. 2024 Jul;
109(2):286-292.
PMID: 39079892
Background/aaims: Congenital stationary night blindness (CSNB) is an inherited retinal disease that is often associated with high myopia and can be caused by pathological variants in multiple genes, most commonly...
5.
Izumi K, Ganetzky R, Wertheim G, Skraban C, Bedoukian E, Wilkens A, et al.
Mol Syndromol
. 2023 Aug;
14(4):303-309.
PMID: 37589028
Background: Pallister-Killian syndrome (PKS) is typically recognized by its features that include developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome...
6.
Schonauer R, Jin W, Findeisen C, Valenzuela I, Devlin L, Murrell J, et al.
Am J Hum Genet
. 2023 May;
110(6):998-1007.
PMID: 37207645
While common obesity accounts for an increasing global health burden, its monogenic forms have taught us underlying mechanisms via more than 20 single-gene disorders. Among these, the most common mechanism...
7.
Aleman T, ONeil E, Uyhazi K, Parchinski K, Santos A, Weber M, et al.
Ophthalmic Genet
. 2022 Dec;
43(6):824-833.
PMID: 36469661
Purpose: To provide a detailed ophthalmic phenotype of a small cohort of patients with Leber Congenital Amaurosis (LCA) caused by mutations in () with a focus on elucidating the origin...
8.
van der Ende S, Meyers B, Capasso J, Sasongko M, Yonekawa Y, Pihlblad M, et al.
JAMA Ophthalmol
. 2022 Aug;
140(9):889-893.
PMID: 35951321
Importance: Familial exudative vitreoretinopathy (FEVR) is a nonsyndromic autosomal dominant retinal disorder commonly caused by variants in the FZD4 gene. This study investigates the potential role beyond ocular abnormalities for...
9.
Bulas S, Bedoukian E, ONeil E, Krantz I, Yum S, Liu G, et al.
J Neuroophthalmol
. 2022 Aug;
43(1):110-115.
PMID: 35921603
Background: To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2...
10.
Bedoukian E, ONeil E, Aleman T
Ophthalmic Genet
. 2022 Apr;
43(4):555-560.
PMID: 35484846
Background: We report on a patient with a juvenile-onset inherited retinal degeneration (IRD) associated with homozygous mutations inherited by uniparental disomy (UPD). Material And Methods: A 6-year-old healthy girl failed...