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
Type at least 3 characters
1,961 articles
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
- 541 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
- 461 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
- 1,001 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
- 125 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
- 140 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
- 841 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
- 142 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
- 174 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
- 216 views
Case Report
Accepted on 24 Oct 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
- 363 views
Case Report
Published on 23 Oct 2025
Case Report: a novel missense variant of FGD5 in a family with tetralogy of Fallot
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1663959
- 1,334 views
Case Report
Accepted on 22 Oct 2025
Familial Xq27.1q28 Duplication Arising from a Maternal Interarm Forward Insertion of the X Chromosome: A Case Report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 366 views
Original Research
Published on 22 Oct 2025
A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1679351
- 889 views
Correction
Accepted on 21 Oct 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
- 322 views