Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.
Körber V et al.
Nature Genetics, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.
Dawood M et al.
International Journal of Ophthalmology, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration.
Wert KJ et al.
Ebiomedicine, 2020
The Molecular Organization of Human cGMP Specific Phosphodiesterase 6 (PDE6): Structural Implications of Somatic Mutations in Cancer and Retinitis Pigmentosa.
Maryam A et al.
Computational and Structural Biotechnology Journal, 2019
MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA.
Schuerch K et al.
Retina (philadelphia, Pa.), 2016
Genomic heterogeneity of multiple synchronous lung cancer.
Liu Y et al.
Nature Communications, 2016
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.
Ullah I et al.
Human Genome Variation, 2016
Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.
Sujirakul T et al.
American Journal of Ophthalmology, 2015
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
Tsang SH et al.
American Journal of Ophthalmology, 2008
Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.
Nair P et al.
Oman Journal of Ophthalmology, 0