Original Research
Accepted on 22 Aug 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
- 148 views
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1,911 articles
Original Research
Published on 22 Aug 2025
Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1642604
- 307 views
Case Report
Published on 21 Aug 2025
Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1642442
- 462 views
Original Research
Accepted on 20 Aug 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
- 132 views
Editorial
Published on 20 Aug 2025
Editorial: Rare diseases research and diagnosis in low- and middle-income countries
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1675361
- 505 views
Original Research
Accepted on 18 Aug 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
- 145 views
Original Research
Published on 18 Aug 2025
Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1592306
- 583 views
Case Report
Published on 15 Aug 2025
A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1593964
- 541 views
Original Research
Published on 14 Aug 2025
Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1638472
- 457 views
Original Research
Published on 14 Aug 2025
The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1622391
- 479 views
Original Research
Published on 13 Aug 2025
Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1572966
- 461 views
Case Report
Published on 13 Aug 2025
Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1626457
- 607 views
Editorial
Published on 12 Aug 2025
Editorial: Genetics of non-syndromic hearing loss
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1665942
- 565 views
Case Report
Published on 11 Aug 2025
Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1585453
- 1,302 views
Brief Research Report
Published on 08 Aug 2025
A unique case of late-onset CIPO caused by a missense mutation in the long isoform of FLNA
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1611614
- 575 views
Original Research
Published on 08 Aug 2025
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1584681
- 1,240 views