Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
- Journal Name, Publication year
- Molecular Neurobiology, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/36943625/
- Paper Title
- A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
- Journal Name, Publication year
- Eur J Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/36797467/
- Paper Title
- Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development
- Journal Name, Publication year
- Molecular medicine, 2022
- 링크
- https://molmed.biomedcentral.com/articles/10.1186/s10020-022-00464-x
- Paper Title
- Disease-causing variant recommendation system for clinical genome interpretation with adjusted scores for artefactual variants
- Journal Name, Publication year
- BioRxiv, 2022
- 링크
- https://www.biorxiv.org/content/10.1101/2022.10.12.511857v1.abstract
- Paper Title
- Improving genetic diagnosis by disease‑specifc, ACMG/AMP variant interpretation guidelines for hearing loss
- Journal Name, Publication year
- Scientific reports, 2022
- 링크
- https://www.nature.com/articles/s41598-022-16661-x
