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Scientific Reports|February 11, 2016
Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping ConsortiumGreg Finak, Marc Langweiler, Maria Jaimes, et al.
American Journal of Ophthalmology|June 8, 2025
Natural History of Autosomal Recessive IMPG2-Associated Retinal DystrophyMichalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United KingdomWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsWilliam Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
The British Journal of Ophthalmology|October 18, 2023
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
American Journal of Ophthalmology|March 19, 2021
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, et al.
Brain Communications|September 1, 2021
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.
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