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Investigative Ophthalmology & Visual Science|August 15, 2018
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneMays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, et al.
American Journal of Ophthalmology|July 28, 2021
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical TrialsXuan-Thanh-An Nguyen, Mays Talib, Mary J van Schooneveld, et al.
Molecular Vision|April 18, 2012
Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degenerationDominique C Baas, Lintje Ho, Michael W T Tanck, et al.
Retina (Philadelphia, Pa.)|April 18, 2020
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up StudyXuan-Thanh-An Nguyen, Mays Talib, Caroline van Cauwenbergh, et al.
Ophthalmology|October 8, 2021
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 PatientsLeo C Hahn, Mary J van Schooneveld, Nieneke L Wesseling, et al.
Ophthalmology. Retina|March 22, 2022
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneLeo C Hahn, Michalis Georgiou, Hind Almushattat, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Plos Genetics|May 10, 2012
Common genetic determinants of intraocular pressure and primary open-angle glaucomaLeonieke M E van Koolwijk, Wishal D Ramdas, M Kamran Ikram, et al.
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