1. Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)
   Li Zhu et al, 2017 CrossRef
2. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families
   Marta de Castro-Miró et al, 2018, Br J Ophthalmol CrossRef
3. Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.
   Anna Skorczyk-Werner et al, 2018, Orphanet J Rare Dis CrossRef
4. Atypical choroideremia presenting with early-onset macular atrophy
   Georgios Kontos et al, 2019, Acta Ophthalmol CrossRef
5. Novel CHM mutations identified in Chinese families with Choroideremia
   Xue-Bi Cai et al, 2016, Sci Rep CrossRef
6. ALMS1null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy
   Y. Xu et al, 2016, Clin Genet CrossRef
7. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa
   Hui Guo et al, 2015, BMC Ophthalmol CrossRef
8. THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE
   Dorothy A. Thompson et al, 2016, Retina CrossRef
9. A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
   Rocio Sanchez-Alcudia et al, 2016, PLoS ONE CrossRef
10. Genetic Analysis of Families with Retinal Dystrophies
    Qingjiong Zhang, 2017 CrossRef
11. Choroideremia
    Ioannis S. Dimopoulos et al, 2017, Current Opinion in Ophthalmology CrossRef
12. Identification of Pathogenic Variants in theCHMGene in Two Korean Patients With Choroideremia
    Kunho Bae et al, 2017, Ann Lab Med CrossRef
13. Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia
    Handong Dan et al, 2020 CrossRef
14. Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes
    Liangbo L Shen et al, 2020, Br J Ophthalmol CrossRef
15. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma
    Pingbo Ouyang et al, 2018, Mol Med Report CrossRef
16. Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants
    Terri L. McLaren et al, 2020, Hum Genome Var CrossRef
17. Coroideremia familiar: reporte de caso con énfasis en la evolución clínica y adquisición de discapacidad visual
    Ana Mercedes Vanegas-Torres et al, 2020, Rev. Medicas UIS CrossRef
18. CHM mutation spectrum and disease: An update at the time of human therapeutic trials
    Christina Zeitz et al, 2021, Human Mutation CrossRef
19. Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
    Jin Ha Kim et al, 2022, J Korean Med Sci CrossRef
20. Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis
    Duygu Bozkaya et al, 2022, BMC Ophthalmol CrossRef
21. The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach
    Bedia Sahin et al, 2022, Indian J Ophthalmol CrossRef