Associated Papers
Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.
Neuhann L et al.
International Journal of Molecular Sciences, 2025
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort.
Xu Q et al.
Journal of Medical Genetics, 2025
Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.
Yu X et al.
Investigative Ophthalmology & Visual Science, 2025
40459495 (PubMed )
Supplement: iovs-66-6-9_s002.pdf
Nanophthalmos with Foveal Hypoplasia and Wrinkling of Macular Mound Caused by Novel Biallelic PRSS56 Variants: A Case Report.
Kim M et al.
Korean Journal of Ophthalmology : Kjo, 2024
Clinical features of patients with mutations in genes for nanophthalmos.
Li X et al.
The British Journal of Ophthalmology, 2024
Multiregion sampling of de novo metastatic prostate cancer reveals complex polyclonality and augments clinical genotyping.
Warner EW et al.
Nature Cancer, 2024
38177459 (PubMed )
Supplement: 43018_2023_692_MOESM11_ESM.xlsx › Sheet1
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.
Wen S et al.
Bmc Pediatrics, 2022
Long-term follow-up of a case of posterior microphthalmos (PRSS56) with hyperautofluorescent retinal pigment epithelial deposits.
Sen P et al.
European Journal of Ophthalmology, 2022
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs OM et al.
Clinical Genetics, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Almoallem B et al.
Scientific Reports, 2020
Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.
Aguiar TFM et al.
Frontiers in Oncology, 2020
32432034 (PubMed )
Supplement: Table_6.XLSX › HB33
Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.
Jiang D et al.
Molecular Vision, 2013
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