Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans–Like Nystagmus
- Journal Name, Publication year
- Journal of neurophthalomology, 2022
- 링크
- https://journals.lww.com/jneuro-ophthalmology/citation/2023/12000/ptpn23_neurodevelopmental_disorder_presenting_with.106.aspx
- Paper Title
- Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders
- Journal Name, Publication year
- iOVS, 2022
- 링크
- https://iovs.arvojournals.org/article.aspx?articleid=2778802
- Paper Title
- Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-Mendelian Fashion
- Journal Name, Publication year
- Clinical & Experimental Otorhinolaryngology, 2022
- 링크
- https://www.e-ceo.org/upload/pdf/ceo-2021-01935.pdf
- Paper Title
- Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
- Journal Name, Publication year
- Scientific reports, 2021
- 링크
- https://www.nature.com/articles/s41598-021-99007-3
- Paper Title
- Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria and severe intellectual disability in a Pakhtun family
- Journal Name, Publication year
- Am J Med Genet A, 2021
- 링크
- https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.62856
