Publications
Check out research papers published by 3billion and collaborators.
- 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
- Paper Title
- Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
- Journal Name, Publication year
- BMC Ophthalmology, 2022
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670441/
- Paper Title
- CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma
- Journal Name, Publication year
- American Journal of Ophthalmology Case Reports, 2022
- 링크
- https://www.sciencedirect.com/science/article/pii/S2451993622000986?via%3Dihub
- Paper Title
- A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report
- Journal Name, Publication year
- Annals of clinical &laboratory science, 2022
- 링크
- https://pubmed.ncbi.nlm.nih.gov/35777792/
