Original Research
Accepted on 24 Dec 2025
Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants
in Genetics of Common and Rare Diseases
Frontiers in Genetics
Type at least 3 characters
1,992 articles
articles
Original Research
Accepted on 23 Dec 2025
Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 167 views
Case Report
Accepted on 23 Dec 2025
Case report: Novel GLA mutation in a Chinese Female with Renal-Predominant Fabry Disease and Cardiac Hypertrophy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 143 views
Original Research
Accepted on 18 Dec 2025
Phenotype and Genotype of Hypophosphatasia Cases in Saudi Arabia: Multi-Center Case Cohort
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 148 views
Original Research
Published on 18 Dec 2025
rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1721264
- 490 views
Original Research
Published on 18 Dec 2025
Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1665623
- 706 views
Case Report
Published on 18 Dec 2025
Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1661377
- 540 views
Opinion
Published on 18 Dec 2025
Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1710953
- 673 views
Original Research
Published on 17 Dec 2025
LRRC56 deficiency cause motile ciliopathies in humans and mice
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1658063
- 674 views
Original Research
Accepted on 16 Dec 2025
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
Original Research
Published on 16 Dec 2025
A transcriptomic atlas at bulk and single-cell levels identifies novel transcriptional and splicing regulators of ECM homeostasis in osteoarthritis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1690319
- 578 views
Case Report
Published on 16 Dec 2025
Neonatal-onset familial hemophagocytic lymphohistiocytosis: a case report with genetic confirmation of PRF1 mutations
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1690283
- 397 views
Case Report
Accepted on 15 Dec 2025
Myoclonic and Tremulous Movements Associated with COQ8A-Related Coenzyme Q10 Deficiency Type 4
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 155 views
Correction
Accepted on 12 Dec 2025
Correction: Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 117 views
Original Research
Accepted on 10 Dec 2025
TPM1-p.E181K Mutation Suppresses CaMKII/HDAC4 Signaling Pathway Leading to Pediatric Restrictive Cardiomyopathy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 138 views
Case Report
Published on 08 Dec 2025
Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1704725
- 750 views
Original Research
Published on 05 Dec 2025
Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1673539
- 933 views
Case Report
Accepted on 04 Dec 2025
Genotype–Phenotype Correlations in FLNA Mutations: Insights from a Case of Multisystem Dysfunction
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 177 views
Original Research
Accepted on 02 Dec 2025
Expanding the Mutational Spectrum of Congenital Microcephaly in Pakistani Families
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 369 views
Case Report
Accepted on 01 Dec 2025
Familial Multiple Fetal Cerebral Arteriovenous Malformations: A Case Report of Maternal Genetic Susceptibility and Fetal Manifestation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 109 views
Correction
Published on 01 Dec 2025
Correction: 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
doi 10.3389/fgene.2025.1749030
- 889 views
Correction
Published on 01 Dec 2025
Correction: Individual and combined effects of the GSTM1, GSTT1, and GSTP1 polymorphisms on type 2 diabetes mellitus risk: a systematic review and meta-analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1749934
- 897 views
Original Research
Accepted on 30 Nov 2025
An intronic micro-deletion impacts the transcription and translation of PKD1 gene
in Genetics of Common and Rare Diseases
Frontiers in Genetics
- 107 views
Case Report
Published on 28 Nov 2025
Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1672214
- 983 views