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
MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.
Tao J et al.
Clinical & Experimental Ophthalmology, 2025
Genetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-Analysis.
Liang YJ et al.
Jama Ophthalmology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity.
Wu W et al.
The British Journal of Ophthalmology, 2023
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Ota J et al.
Ophthalmic Genetics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.
Wen S et al.
Bmc Pediatrics, 2022
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov L et al.
Scientific Reports, 2020
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs OM et al.
Clinical Genetics, 2020
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.
Bacci GM et al.
Ophthalmic 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Guo C et al.
Investigative Ophthalmology & Visual Science, 2019
Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.
Said MB et al.
Gene, 2013
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.
Nowilaty SR et al.
American Journal of Ophthalmology, 2013
Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.
Jiang D et al.
Molecular Vision, 2013
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Gal A et al.
American Journal of Human Genetics, 2011