Area of research
Molecular Biology · Cell Biology
Research interest
Research interests include Biology, Genetics, DNA repair, Xeroderma pigmentosum, Cockayne syndrome, and ERCC1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Performance of Nanopore and Illumina Metagenomic Sequencing for Pathogen Detection and Transcriptome Analysis in Infantile Central Nervous System Infections
ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation
Screening of pathogenic mutations in patients associated with genome instability
The Molecular Biology Society of Japan 2016cited by 0position: last
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency
Hypomorphic PCNA mutation underlies a human DNA repair disorder
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia