Associated Papers
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
MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.
Tao J et al.
Clinical & Experimental Ophthalmology, 2025
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.
Viggiano M et al.
Frontiers in Psychiatry, 2022
35350424 (PubMed )
Supplement: Data-Sheet_1.pdf
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E et al.
Acta Ophthalmologica, 2021
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
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Matías-Pérez D et al.
Journal of Human Genetics, 2018
Gene Therapy Restores Mfrp and Corrects Axial Eye Length.
Velez G et al.
Scientific Reports, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4
Identification of MFRP Mutations in Chinese Families with High Hyperopia.
Xu Y et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2016
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls › GEDi_Diagnoses
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