Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
- Journal Name, Publication year
- Genetic Medicine, 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/39275948/
- Paper Title
- Genetic Investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss
- Journal Name, Publication year
- Sci Rep, 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/39271758/
- Paper Title
- Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
- Journal Name, Publication year
- Nature communication, 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/39174524/
- Paper Title
- A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom
- Journal Name, Publication year
- Ann Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37589173/
- Paper Title
- Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
- Journal Name, Publication year
- frontiers in genetics, 2023
- 링크
- https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1185065/full
