Journal: Prenatal Diagnosis

Article Title: Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC ‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I

doi: 10.1002/pd.70240

Figure Lengend Snippet: Genetic investigation and clinical information of fetuses diagnosed with MOPD1.

Article Snippet: For targeted ES enrichment customized Twist Exome was used and sequenced with NovaSeq6000 (Illumina).

Techniques: Sequencing

Journal: The Journal of Molecular Diagnostics : JMD

Article Title: Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes

doi: 10.1016/j.jmoldx.2026.05.007

Figure Lengend Snippet: The 107 Mutations in the Splice Site of MET Exon 14 Leading to Exon 14 Skipping

Article Snippet: For library preparation, a custom DNA-based hybridization NGS assay from Twist Bioscience (South San Francisco, CA) was used, according to the manufacturer's instruction.

Techniques:

Journal: The Journal of Molecular Diagnostics : JMD

Article Title: Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes

doi: 10.1016/j.jmoldx.2026.05.007

Figure Lengend Snippet: MET Exon 14 Mutations That Do Not Lead to MET Exon 14 Skipping

Article Snippet: For library preparation, a custom DNA-based hybridization NGS assay from Twist Bioscience (South San Francisco, CA) was used, according to the manufacturer's instruction.

Techniques:

Journal: The Journal of Molecular Diagnostics : JMD

Article Title: Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes

doi: 10.1016/j.jmoldx.2026.05.007

Figure Lengend Snippet: Sample with a large deletion in the splice site of MET exon 14, leading to MET exon 14 skipping. A: MET exon 14 mutation c.2942-47_2944del detected with the DNA-based amplicon next-generation sequencing (NGS) panel visualized with the Integrative Genomics Viewer (IGV). B: MET exon 14 mutation c.2942-47_2944del analyzed with the DNA-based hybridization NGS panel and not called in-house by the bioinformatic pipeline visualized with the IGV. C: MET (exon 13):: MET (exon 15) fusion detected with the RNA-based NGS assay visualized with the Archer Analysis Software version 5.1.3.

Article Snippet: For library preparation, a custom DNA-based hybridization NGS assay from Twist Bioscience (South San Francisco, CA) was used, according to the manufacturer's instruction.

Techniques: Mutagenesis, Amplification, Next-Generation Sequencing, DNA Hybridization, Software

Journal: The Journal of Molecular Diagnostics : JMD

Article Title: Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes

doi: 10.1016/j.jmoldx.2026.05.007

Figure Lengend Snippet: Sample with large deletion in the splice site of MET exon 14, leading to MET exon 14 skipping. A: MET exon 14 mutation c.2942-49_2963delinsC analyzed with the DNA-based hybridization next-generation sequencing (NGS) panel and not called by the bioinformatic pipeline visualized with the Integrative Genomics Viewer. B: MET (exon 13):: MET (exon 15) fusion detected with the RNA-based NGS assay visualized with the Archer Analysis Software version 6.2.7.

Article Snippet: For library preparation, a custom DNA-based hybridization NGS assay from Twist Bioscience (South San Francisco, CA) was used, according to the manufacturer's instruction.

Techniques: Mutagenesis, DNA Hybridization, Sequencing, Software

Journal: The Journal of Molecular Diagnostics : JMD

Article Title: Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes

doi: 10.1016/j.jmoldx.2026.05.007

Figure Lengend Snippet: Sample with a synonymous point mutation in the splice site of MET exon 14, leading to MET exon 14 skipping. A: MET exon 14 mutation c.3081A>G, p.Glu1027Glu detected with the DNA-based amplicon next-generation sequencing (NGS) panel visualized with the Integrative Genomics Viewer. B: MET (exon 13):: MET (exon 15) fusion detected with the RNA-based NGS assay visualized with the Archer Analysis Software version 6.2.7.

Article Snippet: For library preparation, a custom DNA-based hybridization NGS assay from Twist Bioscience (South San Francisco, CA) was used, according to the manufacturer's instruction.

Techniques: Mutagenesis, Amplification, Next-Generation Sequencing, Software

Journal: The Journal of Molecular Diagnostics : JMD

Article Title: Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes

doi: 10.1016/j.jmoldx.2026.05.007

Figure Lengend Snippet: Outcomes of the external quality assessment (EQA) sub-scheme with liquid biopsy samples for the detection of MET exon 14 skipping mutations on the DNA level. All participants used DNA-based next-generation sequencing (NGS) methods. Successful and unsuccessful participation were highlighted, along with the methods used. A: Outcome of the EQA sub-scheme with liquid biopsy samples in 2022. B: Outcome of the EQA sub-scheme with liquid biopsy samples in 2024.

Article Snippet: For library preparation, a custom DNA-based hybridization NGS assay from Twist Bioscience (South San Francisco, CA) was used, according to the manufacturer's instruction.

Techniques: Next-Generation Sequencing