Original Research
Accepted on 13 Feb 2026
Exploring the Strengths and Limitations of AI-Driven Variant Prioritization Versus Manual Curation in Inborn Errors of Immunity
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Type at least 3 characters
2,013 articles
articles
Original Research
Published on 13 Feb 2026
Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1737027
- 735 views
Case Report
Accepted on 12 Feb 2026
Co-occurring DMD, GJA1, and Novel FYCO1 Variants in a Proband from a Consanguineous Oculodentodigital Dysplasia Family: A Rare Multilocus Case Report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Original Research
Published on 12 Feb 2026
Genetic polymorphisms of the CDC27 gene are associated with susceptibility and outcomes of non-syndromic congenital heart disease: a bi-ethnic case–control study in Chinese populations
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1701812
- 375 views
Original Research
Accepted on 10 Feb 2026
Clinical and Genetic Features of Hereditary Transthyretin Amyloidosis with Polyneuropathy in China: Insights from Case Analysis and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 108 views
Correction
Published on 09 Feb 2026
Correction: BAG3-related myofibrillar myopathy: focus on its cardiac involvement
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1786473
- 403 views
Original Research
Published on 09 Feb 2026
Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1763609
- 422 views
Case Report
Accepted on 06 Feb 2026
Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 127 views
Original Research
Published on 06 Feb 2026
Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1758799
- 812 views
Case Report
Published on 05 Feb 2026
POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1668022
- 745 views
Original Research
Accepted on 04 Feb 2026
SOX9 Gene Defects and Campomelic / Acampomelic Campomelic Dysplasia: Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 232 views
Original Research
Published on 04 Feb 2026
Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1647481
- 785 views
Original Research
Published on 04 Feb 2026
Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1709951
- 728 views
Review
Published on 02 Feb 2026
Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1739328
- 599 views
Case Report
Accepted on 31 Jan 2026
Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: A case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 418 views
Original Research
Accepted on 29 Jan 2026
Lung scRNA-seq reveals chronic inflammation and emphysemous phenotype in mice with Osteogenesis Imperfecta
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 219 views
Case Report
Published on 26 Jan 2026
Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1751809
- 865 views
Original Research
Accepted on 23 Jan 2026
Defects in PDIA4 enhance Individuals' susceptibility to Congenital Heart Disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 221 views
Original Research
Published on 23 Jan 2026
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1722462
- 1,084 views
Case Report
Published on 23 Jan 2026
Case Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1659838
- 686 views
Original Research
Published on 23 Jan 2026
An intronic micro-deletion impacts the transcription and translation of PKD1 gene
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1707053
- 819 views
Original Research
Accepted on 22 Jan 2026
Genetic Analysis and Clinical characteristics of Sporadic and Familial Congenital Cataracts in Southern Chinese families
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 177 views
Original Research
Published on 13 Jan 2026
Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1715818
- 1,108 views
Original Research
Published on 12 Jan 2026
Multiple susceptibility enhancer variants increasing ADD3 expression predisposes to biliary atresia risk
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1733215
- 891 views