1. Whole-exome sequencing identified a novel mutation in CHM of a Chinese family
   Hui Tang et al, 2021, Journal of Genetics CrossRef
2. The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach
   John Brinkley et al, 2022, Indian Journal of Ophthalmology CrossRef
3. Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
   Jin Ha Kim et al, 2022, Journal of Korean Medical Science CrossRef
4. THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE
   Dorothy A. Thompson et al, 2016, Retina CrossRef
5. Genetic Analysis of Families with Retinal Dystrophies
   Qingjiong Zhang, 2017, Advances in Vision Research, Volume I CrossRef
6. CHM mutation spectrum and disease: An update at the time of human therapeutic trials
   Christina Zeitz et al, 2021, Human Mutation CrossRef
7. ALMS1 null mutations: a common cause of Leber congenital amaurosis and early‐onset severe cone–rod dystrophy
   Y. Xu et al, 2016, Clinical Genetics CrossRef
8. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma
   Pingbo Ouyang et al, 2018, Molecular Medicine Reports CrossRef
9. 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 Ophthalmology CrossRef
10. Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants
    Terri L. McLaren et al, 2020, Human Genome Variation CrossRef
11. Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis
    Duygu Bozkaya et al, 2022, BMC Ophthalmology CrossRef
12. Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)
    Li Zhu et al, 2017, Molecular Medicine Reports CrossRef
13. Novel CHM mutations identified in Chinese families with Choroideremia
    Xue-Bi Cai et al, 2016, Scientific Reports CrossRef
14. 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, Bioscience Reports CrossRef
15. Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia
    Kunho Bae et al, 2017, Annals of Laboratory Medicine CrossRef
16. Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
    Anna Skorczyk-Werner et al, 2018, Orphanet Journal of Rare Diseases CrossRef
17. 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, 2021, British Journal of Ophthalmology CrossRef
18. A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
    Rocio Sanchez-Alcudia et al, 2016, PLOS ONE CrossRef
19. Choroideremia
    Ioannis S. Dimopoulos et al, 2017, Current Opinion in Ophthalmology CrossRef
20. Coroideremia familiar: reporte de caso con énfasis en la evolución clínica y adquisición de discapacidad visual
    Ana Mercedes Vanegas-Torres et al, 2020, Revista Médicas UIS CrossRef
21. Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families
    Marta de Castro-Miró et al, 2018, British Journal of Ophthalmology CrossRef
22. Atypical choroideremia presenting with early‐onset macular atrophy
    Georgios Kontos et al, 2019, Acta Ophthalmologica CrossRef