Associated Papers
Rare variants in STAB2 in patients with chronic thromboembolic pulmonary hypertension.
Dodson MW et al.
Erj Open Research, 2025
40726512 (PubMed )
Supplement: 01322-2024.SUPPLEMENT.pdf
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › VUS_2018_2020
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T et al.
Frontiers in Genetics, 2023
Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis.
Horjus J et al.
International Journal of Molecular Sciences, 2022
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8
Variant Reclassification in Underrepresented Minority Children With Sensorineural Hearing Loss.
Scaria SM et al.
Ear and Hearing, 0
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