Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome

Conclusions: Our study shows that targeted NGS can be useful to determine a molecular diagnosis for patients with INS. Targeted NGS also helps to confirm a clinical diagnosis in atypical phenotypes or unresolved cases.PMID:34132631 | DOI:10.1080/13816810.2021.1938138

Source: Ophthalmic Genetics - June 16, 2021 Category: Opthalmology Authors: Jae-Hwan Choi Su-Jin Kim Mervyn G Thomas Jae-Ho Jung Eun Hye Oh Jin-Hong Shin Jae Wook Cho Hyang-Sook Kim Ji-Yun Park Seo Young Choi Hee Young Choi Kwang-Dong Choi Source Type: research