Original Research
Published on 12 Sep 2025
Whole-exome sequencing in pediatric patients with glomerulonephritis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1611340
- 497 views
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1,921 articles
Original Research
Published on 11 Sep 2025
Combined molecular characterization and dopa-responsive treatment in two patients with NR4A2-associated intellectual developmental disorder
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1590292
- 689 views
Original Research
Accepted on 10 Sep 2025
Intrauterine phenotype, genetic analysis, and pregnancy follow-up of fetuses with the 16p12.2 microdeletion
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1595399
- 252 views
Case Report
Published on 10 Sep 2025
Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1665167
- 600 views
Correction
Published on 10 Sep 2025
Correction: Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1676267
- 492 views
Original Research
Published on 10 Sep 2025
Clinical utility of exome sequencing in hearing loss: a retrospective cohort study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1643537
- 702 views
Original Research
Accepted on 09 Sep 2025
Uncovering Compound Heterozygous DYSF Variants in a Chinese Family Affected by Limb-Girdle Muscular Dystrophy Type 2B
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1664086
- 190 views
Original Research
Published on 05 Sep 2025
Geographical distribution of ALDH2 rs671 polymorphism in Chinese angina pectoris patients
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1543963
- 895 views
Original Research
Published on 05 Sep 2025
Temporal regulation of genetic programs governing multiple cell death during myocardial ischemia-reperfusion injury
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1632867
- 883 views
Original Research
Accepted on 03 Sep 2025
A novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1646923
- 413 views
Original Research
Accepted on 03 Sep 2025
Functional Analysis of MEIS2 splice site variant c.438+1G>T in a congenital heart patient
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1629159
- 384 views
Original Research
Published on 03 Sep 2025
Validation of a genome-wide polygenic score for body mass index in South Asians
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1603542
- 999 views
Original Research
Published on 01 Sep 2025
A de novo mutation in RAB11A is associated with neurodevelopmental disorder accompanied by variable multisystem abnormalities
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1636206
- 894 views
Original Research
Published on 29 Aug 2025
Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1580864
- 891 views
Original Research
Accepted on 27 Aug 2025
Functional Characterization of MFSD3 in Auditory System and Zebrafish Embryogenesis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1634493
- 224 views
Original Research
Accepted on 27 Aug 2025
Association between LRRK2 gene polymorphisms and Parkinson's disease progression in a Chinese Han population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1662348
- 216 views