1. Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia
   Saber Imani et al, 2018, Mutation Research/Reviews in Mutation Research CrossRef
2. Non-invasive prenatal diagnosis of foetal gender through maternal circulation in first trimester of pregnancy
   Saeed Mahdavi et al, 2019, Journal of Obstetrics and Gynaecology CrossRef
3. Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing
   Saber Imani et al, 2018, Journal of Cellular and Molecular Medicine CrossRef
4. An approach for state differentiation in nucleic acid circuits: Application to diagnostic DNA computing
   Hanie Tajadini et al, 2024, Analytica Chimica Acta CrossRef
5. A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family
   Saba Shahid et al, 2019, Frontiers in Genetics 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. A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
   Jingliang Cheng et al, 2019, Journal of Cellular and Molecular Medicine CrossRef
8. Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses
   Feng-Juan Gao et al, 2020, BMC Ophthalmology CrossRef
9. Amniocentesis and Next Generation Sequencing (NGS)-Based Noninvasive Prenatal DNA Testing (NIPT) for Prenatal Diagnosis of Fetal Chromosomal Disorders
   Qi-Ge Qi et al, 2021, International Journal of General Medicine CrossRef
10. Whole-exome sequencing identified a novel mutation in CHM of a Chinese family
    Hui Tang et al, 2021, Journal of Genetics CrossRef
11. Choroideremia
    Ian M. MacDonald et al, 2020, Hereditary Chorioretinal Disorders CrossRef
12. A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis
    Jiewen Fu et al, 2018, Journal of Cellular and Molecular Medicine CrossRef
13. Genetic identification and molecular modeling characterization reveal a novelPROM1mutation in Stargardt4-like macular dystrophy
    Saber Imani et al, 2018, Oncotarget CrossRef
14. Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1
    Lisha Yang et al, 2023, Molecular Biology Reports CrossRef
15. Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
    Lisha Yang et al, 2023, BMC Medical Genomics CrossRef
16. A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing
    Chunli Wei et al, 2018, BMC Medical Genetics CrossRef
17. Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method
    Yanchou Ye et al, 2021, Molecular Genetics & Genomic Medicine CrossRef