Meghan J M DeBenedictis (Meghan DeBenedictis, Meghan M DeBenedictis, Meghan J DeBenedictis, M DeBenedictis)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 8

Top Topics

Duchenne Muscular Dystrophy

Top Venues

Ophthalmic genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Madeline Beckman, Leanne Clevenger, Meghan J M DeBenedictis, Alex Yuan, Sumit Sharma
A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy. Ophthalmic genetics (2023)
Sruthi Arepalli, Meghan J M DeBenedictis, Alex Yuan, Elias I Traboulsi
Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature. Ophthalmic genetics (2022)
H Al-Hindi, M Z Chauhan, R Sanders, H Samarah, Meghan J M DeBenedictis, Elias I Traboulsi, S H Uwaydat
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases. Ophthalmic genetics (2021)
Meghan J M DeBenedictis, Yosef Gindzin, Enrico Glaab, Bela Anand-Apte
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype. Ophthalmic genetics 41 (5) (2020)
Madeline Williamson, Elias I Traboulsi, Meghan J M DeBenedictis
Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation. Ophthalmic genetics 41 (2) (2020)
Razek Georges Coussa, Yue Zhao, Meghan J M DeBenedictis, Allison Babiuch, Jonathan Sears, Elias I Traboulsi
Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature. Ophthalmic genetics 41 (1) (2020)
Sydney Strait, Rebecca Loman, Lindsay Erickson, Meghan J M DeBenedictis
Inherited retinal degeneration current genetics practices - a needs assessment. Ophthalmic genetics 41 (6) (2020)
Yue Zhao, Razek Georges Coussa, Meghan J M DeBenedictis, Elias I Traboulsi
Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype. Ophthalmic genetics 40 (5) (2019)