Associated Papers
Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2026
Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
Cheng P et al.
Frontiers in Pediatrics, 2026
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Phenotypic findings associated with variation in elastin.
Justice A et al.
Hgg Advances, 2025
Phenotypic Findings Associated with Variation in Elastin.
Justice A et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
Szot JO et al.
Circulation. Genomic and Precision Medicine, 2018
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