Review
Published on 02 Jun 2025
The clinical application and challenges of preimplantation genetic testing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1599088
- 1,158 views
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1,882 articles
Brief Research Report
Published on 02 Jun 2025
Autosomal dominant myopathy caused by a novel ISCU variant
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1605440
- 856 views
Original Research
Published on 30 May 2025
Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype–phenotype analysis in a Saudi tertiary center
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1584817
- 908 views
Original Research
Published on 30 May 2025
Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1588709
- 725 views
Original Research
Published on 30 May 2025
A non-invasive method for screening mitochondrial diabetes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1536331
- 866 views
Case Report
Accepted on 29 May 2025
A Family Report of Hereditary Pancreatitis Caused by SPINK1 and PRSS1 Gene Mutation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1610108
- 220 views
Case Report
Published on 26 May 2025
Case Report: Multiple cerebral infarctions in a patient with hereditary hemorrhagic telangiectasia following a fall
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1581625
- 884 views
Brief Research Report
Published on 23 May 2025
Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1541946
- 1,103 views
Case Report
Published on 22 May 2025
Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1565296
- 1,036 views
Original Research
Published on 22 May 2025
Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1541333
- 935 views
Original Research
Published on 19 May 2025
Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1522338
- 1,090 views
Case Report
Published on 19 May 2025
Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1595298
- 745 views
Original Research
Published on 13 May 2025
A novel loss-of-function SYCP2 variant causes asthenoteratozoospermia in infertile males
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1595720
- 920 views
Original Research
Accepted on 12 May 2025
Two Novel Cases with PIGQ-CDG: Expansion of the Genotype-Phenotype Spectrum and Evaluation of GestaltMatcher as a Diagnostic Tool
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1598602
- 172 views
Correction
Published on 12 May 2025
Corrigendum: Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1620297
- 783 views
Original Research
Published on 12 May 2025
Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1574076
- 910 views