Original Research
Accepted on 07 Nov 2025
FTO rs9939609 and rs17817449 polymorphisms contribute to metabolic syndrome risk by increasing triglyceride and glucose levels
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Type at least 3 characters
1,967 articles
Case Report
Accepted on 07 Nov 2025
MAPT Mutation-Induced Behavioral Variant Frontotemporal Dementia in an Asian Patient: A Multimodal Biomarker Case Report Resolving Diagnostic Challenges with Alzheimer's Disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Original Research
Published on 07 Nov 2025
Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1648420
- 332 views
Case Report
Published on 07 Nov 2025
Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1637931
- 531 views
Original Research
Published on 07 Nov 2025
Precision genomic profiling in Gaucher disease: insights from atypical presentations
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1553036
- 475 views
Correction
Published on 07 Nov 2025
Correction: A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1722189
- 397 views
Case Report
Published on 06 Nov 2025
Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1699834
- 334 views
Case Report
Published on 06 Nov 2025
Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1631767
- 303 views
Case Report
Published on 06 Nov 2025
Case Report: Novel compound heterozygous mutations in PNPLA6 gene associated with Oliver-McFarlane syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1660243
- 508 views
Case Report
Published on 06 Nov 2025
A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1669947
- 421 views
Original Research
Published on 06 Nov 2025
Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers–Danlos syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1689587
- 426 views
Case Report
Published on 05 Nov 2025
Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1669814
- 348 views
Original Research
Published on 05 Nov 2025
Downregulation of aquaporin 3 promotes hyperosmolarity-induced apoptosis of nucleus pulposus cells through PI3K/Akt/mTOR pathway suppression
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1665899
- 407 views
Original Research
Accepted on 03 Nov 2025
BAG3-related myofibrillar myopathy: focus on its cardiac involvement
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Original Research
Accepted on 03 Nov 2025
Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutation in fetus
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Case Report
Accepted on 03 Nov 2025
Case report: mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics