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Ophthalmic Genetics|August 29, 2018
Fundus phenotype in retinitis pigmentosa associated with EYS mutationsDario Pasquale Mucciolo, Andrea Sodi, Ilaria Passerini, et al.Ophthalmic Genetics|September 18, 2018
A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotypeFukutaro Mano, Stephen A LoBue, Timothy W Olsen, et al.Ophthalmic Genetics|October 17, 2019
PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophyNarsis Daftarian, Mehraban Mirrahimi, Hamideh Sabbaghi, et al.Ophthalmic Genetics|September 28, 2018
Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophyFrancesca Pasutto, Arif Ekici, André Reis, et al.Ophthalmic Genetics|April 12, 2023
Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imagingLorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, et al.Ophthalmic Genetics|March 30, 2023
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin LectureDavid H AbramsonOphthalmic Genetics|March 30, 2023
Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohortThiago Adalton Rosa Rodrigues, Bruno Batista de Souza, Victor de Haidar E Bertozzo, et al.Ophthalmic Genetics|March 30, 2023
Whole-exome screening for primary congenital glaucoma in LebanonNadine J Makhoul, Zahi Wehbi, Dalia El Hadi, et al.Ophthalmic Genetics|April 5, 2023
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case reportMuhannad Alkhalifah, Hani AlMezaine, Basamat AlMoallemOphthalmic Genetics|April 5, 2023
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literatureEva Jin, Hong Le, Ann Jewell, et al.Pageof 185