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
Type at least 3 characters
1,965 articles
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
Original Research
Accepted on 03 Nov 2025
LRRC56 Deficiency Cause Motile Ciliopathies in Humans and Mice
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Original Research
Published on 03 Nov 2025
Family-based NGS panel testing of cardiopathies and arrhythmic syndromes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1677311
- 452 views
Case Report
Accepted on 31 Oct 2025
Case Report: developmental Delay and Intellectual Disability Linked to a Maternally Inherited Derivative Chromosome 3 from a t(3;8) Translocation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 102 views
Case Report
Published on 31 Oct 2025
“Case report”: Whole-exome sequencing reveals compound heterozygous variants in the EIF2B5 gene in a familial case of vanishing white matter
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1688885
- 676 views
Original Research
Accepted on 30 Oct 2025
Computational-Experimental Strategy Identifies Co-Upregulated Biomarkers Linking Coronary Heart Disease and Type 2 Diabetes Pathogenesis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Original Research
Published on 30 Oct 2025
Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1664424
- 510 views
Original Research
Published on 30 Oct 2025
Prenatal diagnosis of Prader–Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1675663
- 1,056 views
Original Research
Accepted on 29 Oct 2025
Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 133 views
Original Research
Accepted on 28 Oct 2025
Mechanistic Insights into NFIX Frameshift Mutations in Malan Syndrome: Proteasomal Degradation-Mediated Haploinsufficiency
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 153 views
Review
Published on 28 Oct 2025
Gene therapy for disorders of sex development: current applications and future challenges
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1661127
- 899 views
Case Report
Accepted on 27 Oct 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
- 147 views
Case Report
Accepted on 27 Oct 2025
Compound heterozygous CEP152 c.3346-5T>C and chr15 deletion caused recurrent MCPH-SCKS in a Chinese pregnant woman during two consecutive pregnancies
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 181 views
Case Report
Accepted on 27 Oct 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
- 228 views