ORIGINAL RESEARCH
Published on 15 Mar 2023
Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review
doi 10.3389/fped.2023.975696
- 1,129 views
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Molecular Diagnosis and Disease Mechanisms in Rare Genetic Eye Disease
Molecular Diagnosis and Disease Mechanisms in Rare Genetic Eye Disease
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ORIGINAL RESEARCH
Published on 25 Nov 2022
Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways
doi 10.3389/fgene.2022.949449
- 2,482 views
- 1 citation
ORIGINAL RESEARCH
Published on 30 Aug 2022
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
doi 10.3389/fgene.2022.900548
- 4,705 views
- 9 citations
ORIGINAL RESEARCH
Published on 22 Aug 2022
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics
doi 10.3389/fgene.2022.977806
- 2,171 views
- 6 citations
SYSTEMATIC REVIEW
Published on 17 May 2022
New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy—Beyond Classical Gene Candidates
doi 10.3389/fgene.2022.886461
- 2,513 views
- 3 citations
REVIEW
Published on 16 May 2022
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review
doi 10.3389/fgene.2022.884722
- 3,042 views
- 11 citations
ORIGINAL RESEARCH
Published on 10 Dec 2021
Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma
doi 10.3389/fgene.2021.764509
- 3,108 views
- 14 citations
Published in
Frontiers in Genetics
- Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore
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- 21kTopic views
- 14kArticle views
- 6,293Article downloads