Genlin Li - Publications

Screening copy number variations in 35 unsolved inherited retinal disease families.

Journal: Human genetics

Published: September 11, 2023

Corneal deposits and nerve alterations in Bietti Corneoretinal Crystalline Dystrophy imaged using in vivo confocal microscopy.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: September 27, 2022

Genotype and Ocular Phenotype in Sixteen Chinese Patients with Bietti Corneoretinal Crystalline Dystrophy.

Journal: Current eye research

Published: November 02, 2021

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.

Journal: BMC ophthalmology

Published: May 09, 2021

WITHDRAWN: Exosomes derived from BDNF-expressing 293T attenuate ischemic retinal injury in vitro and in vivo.

Journal: Aging

Published: March 11, 2020

Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies.

Journal: Clinical & experimental ophthalmology

Published: March 01, 2020

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Journal: Genes

Published: May 03, 2018

Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.

Journal: Experimental eye research

Published: August 13, 2015

Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Journal: PloS one

Published: June 01, 2015

The anomalies of choroidal and retinal blood flow in retinitis pigmentosa patients

Journal: [Zhonghua yan ke za zhi] Chinese journal of ophthalmology

Published: October 15, 2014

Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.

Journal: Molecular vision

Published: November 13, 2013

Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families.

Journal: BMJ open

Published: November 09, 2013