ORIGINAL RESEARCH
Published on 02 May 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis
doi 10.3389/fgene.2025.1499456
- 1,543 views
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Application of Next-Generation Sequencing in Clinical Settings
Application of Next-Generation Sequencing in Clinical Settings
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Articles
BRIEF RESEARCH REPORT
Published on 05 Mar 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis
doi 10.3389/fgene.2025.1488956
- 726 views
BRIEF RESEARCH REPORT
Published on 20 Feb 2025
Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data
doi 10.3389/fgene.2025.1495604
- 1,051 views
ORIGINAL RESEARCH
Published on 13 Jan 2025
Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations
doi 10.3389/fgene.2024.1484651
- 871 views
ORIGINAL RESEARCH
Published on 11 Dec 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
doi 10.3389/fgene.2024.1477940
- 1,148 views
- 1 citation
CASE REPORT
Published on 18 Jun 2024
Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report
doi 10.3389/fgene.2024.1395012
- 1,737 views
- 3 citations
ORIGINAL RESEARCH
Published on 15 Feb 2024
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families
doi 10.3389/fgene.2024.1343094
- 1,788 views
- 2 citations
BRIEF RESEARCH REPORT
Published on 29 Jan 2024
Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
doi 10.3389/fgene.2024.1352006
- 1,481 views
- 3 citations
CASE REPORT
Published on 23 Jan 2024
Case report: Targeted sequencing facilitates the diagnosis and management of rare multifocal pure ground-glass opacities with intrapulmonary metastasis
doi 10.3389/fonc.2023.1276095
- 913 views
