Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Molly Marra, Benjamin Bakall, Samuel Koller, José Sahel et autres
0 citationsUNC Libraries
Andrea L. Vincent
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168Publications signalées
3036Citations signalées
6Affiliations récentes
Institutions déclarées
Domaines associés
Retinal Development and DisordersCorneal surgery and disordersGlaucoma and retinal disordersRetinal Diseases and TreatmentsCorneal Surgery and Treatments
Publications récentes
Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP ‐1 receptor agonist therapy
Abigail L'Amie, Andrea L. Vincent, Craig Jefferies, Geoffrey Braatvedt et autres
0 citationsDiabetic Medicine
ABCA4 Versus PRPH2 -Associated Retinopathy: Clinical and Electrophysiological Findings
Rachael C. Heath Jeffery, Jennifer A Thompson, Johnny Lo, Andrea L. Vincent et autres
0 citationsInvestigative Ophthalmology & Visual Science
Alternate day vs daily topical brinzolamide for the treatment of cystic maculopathy in inherited rod cone retinal degenerations
C. J. Barrett, Gülünay Kıray, Orit Barrett, Andrea L. Vincent
0 citationsOphthalmic Genetics
Alternate day vs daily topical brinzolamide for the treatment of cystic maculopathy in inherited rod cone retinal degenerations
C. J. Barrett, Gülünay Kıray, Orit Barrett, Andrea L. Vincent
0 citationsOphthalmic Genetics
Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population
Minal Patil, Andrea L. Vincent
0 citationsOphthalmic Genetics
Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants in BPES
Charlotte Matton, Julie Van De Velde, Marieke De Bruyne, Stijn Van de Sompele et autres
0 citationsmedRxiv
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres
14 citationsNature Genetics
Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES
Charlotte Matton, Julie Van De Velde, Marieke De Bruyne, Stijn Van de Sompele et autres
0 citationsHuman Mutation
WFS1 E864K in humans and mice causes Wolfram-like syndrome optic atrophy via early axonal mitochondrial dysfunction
Hernán H. Diéguez, Élodie Reboussin, Cansu de Muijnck, Jérôme Sarniguet et autres
0 citationsbioRxiv (Cold Spring Harbor Laboratory)
Barriers and Enablers to Cardiovascular Disease Prevention Behaviours in Midlife Women
Cristian Paúl, Ladan Yeganeh, Erica E. Davis, Lisa Moran et autres
0 citationsHeart Lung and Circulation
Inherited retinal disease in global Indigenous populations: A scoping review
Emma C. Tovey Crutchfield, Andrea L. Vincent, Mitchell D Anjou, Hugh R. Taylor et autres
4 citationsSurvey of Ophthalmology
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