Associated Papers
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Silverstein S et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646813 (PubMed )
Supplement: media-3.xlsx › Table_S3
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
40603303 (PubMed )
Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.
Sabry S et al.
Molecular Biology Reports, 2023
Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
Liu YD et al.
Frontiers in Genetics, 2023
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N et al.
Prenatal Diagnosis, 2020
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.
Zhu M et al.
Oncology Letters, 2013
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
Valencia CA et al.
Plos One, 2013
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
Oliveira J et al.
Journal of Human Genetics, 2008
Molecular heterogeneity in fetal forms of type II lissencephaly.
Bouchet C et al.
Human Mutation, 2007
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
Valencia CA et al.
The Journal of Molecular Diagnostics : Jmd, 0
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