Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Identification of a Pathogenic RECQL4 1.6-kb Deletion-Insertion in a Neonate with Atypical Skeletal Phenotype of Baller-Gerold Syndrome Using Rapid Whole-Genome Sequencing
- Journal Name, Publication year
- Ann Lab Med, 2026
- 링크
- https://www.annlabmed.org/journal/view.html?doi=10.3343/alm.2026.0102
- Paper Title
- MLIP-Related Myopathy: Two Unreported Pathogenic Variants – A Case Report
- Journal Name, Publication year
- Mol Syndromol, 2026
- 링크
- https://karger.com/msy/article-abstract/doi/10.1159/000552794/949856/MLIP-Related-Myopathy-Two-Unreported-Pathogenic?redirectedFrom=fulltext
- Paper Title
- Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16
- Journal Name, Publication year
- Hum Mutat . , 2026
- 링크
- https://onlinelibrary.wiley.com/doi/10.1155/humu/7451586
- Paper Title
- A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosis
- Journal Name, Publication year
- Mol Genet Genomics . , 2026
- 링크
- https://link.springer.com/article/10.1007/s00438-026-02480-6
- Paper Title
- Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children
- Journal Name, Publication year
- Children (Basel), 2026
- 링크
- https://www.mdpi.com/2227-9067/13/6/752