Case Report
Accepted on 22 Dec 2025
Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia
in Human and Medical Genomics
Frontiers in Genetics
- 111 views
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835 articles
articles
Original Research
Accepted on 22 Dec 2025
Circ-104792/miR-133a/Bcl-xL influences the proliferation and function of human trophoblastic and decidual stromal cells involved in recurrent abortion disease
in Human and Medical Genomics
Frontiers in Genetics
- 134 views
Original Research
Published on 18 Dec 2025
Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1712025
- 787 views
Case Report
Published on 18 Dec 2025
Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1692658
- 818 views
Original Research
Published on 18 Dec 2025
Post-translational modification gene signatures implicate FBXW7 in immune and vascular dysregulation of Moyamoya disease
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1723233
- 842 views
Original Research
Accepted on 10 Dec 2025
Integration of chromosome microarray analysis and whole exome sequencing whole-exome sequencing for prenatal diagnosis of fetuses presenting cardiac ultrasound anomalies
in Human and Medical Genomics
Frontiers in Genetics
- 177 views
Systematic Review
Accepted on 08 Dec 2025
A Systematic Review on the Generative AI Applications in Human Medical Genetics
in Human and Medical Genomics
Frontiers in Genetics
- 171 views
Case Report
Published on 01 Dec 2025
Case Report: Novel mutations in two patients with MED13L-related intellectual disability highlighting the importance of genetic counseling
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1669849
- 1,014 views
Original Research
Published on 20 Nov 2025
Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1710280
- 923 views
Review
Published on 11 Nov 2025
Ocular surface health and disease: insight from single-cell RNA sequencing
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1683167
- 1,703 views
Case Report
Published on 27 Oct 2025
Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal ultrasound soft markers: a case report
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1661743
- 1,556 views
Case Report
Published on 24 Oct 2025
Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1670299
- 1,436 views
Editorial
Published on 09 Oct 2025
Editorial: Application of next-generation sequencing in clinical settings
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1700975
- 3,725 views
Data Report
Published on 08 Oct 2025
Catalogue of mitotic chromosome-associated small RNAs in mouse 3T3 cell line
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1559795
- 1,554 views
Original Research
Published on 19 Sep 2025
Deciphering the shared genetic structure between hip osteoarthritis and femoral neck bone mineral density
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1597005
- 2,743 views
Review
Published on 19 Sep 2025
Beyond single references: pangenome graphs and the future of genomic medicine
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1679660
- 4,562 views
Opinion
Published on 15 Sep 2025
The potential clinical and public health implications of presymptomatic genetic testing for transthyretin amyloidosis in African American/Black adults in the United States
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1658636
- 3,076 views
Case Report
Published on 11 Sep 2025
Shotgun metagenomics detects the human pegivirus complete genome in a pediatric patient with acute hepatitis of unknown etiology: a case report
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1653082
- 3,306 views
- 1 citation
Original Research
Published on 08 Sep 2025
Comprehensive analysis and validation of angiogenesis in vascular dementia from the perspective of diagnosis, prevention, and treatment
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1646991
- 2,533 views
Original Research
Published on 26 Aug 2025
Novel estrogen-related gene variants identified by whole-exome sequencing in pregnancy-associated intrahepatic cholestasis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1626890
- 2,550 views
Original Research
Published on 25 Aug 2025
A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1649253
- 2,205 views
Original Research
Published on 20 Aug 2025
A metagenome-wide association study of gut microbiota in hepatitis B virus-related cirrhosis in northwest China
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1619911
- 3,192 views
Original Research
Published on 18 Aug 2025
Bioinformatics analysis combined with untargeted metabolomics reveals lipid metabolism-related genes and their biological markers in chronic spontaneous urticaria
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1550205
- 2,609 views
Original Research
Published on 15 Aug 2025
A retrospective analysis of 38,652 amniotic fluid karyotype
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1655290
- 1,981 views
- 1 citation