Area of research
Molecular Biology · Plant Science
Research interest
Research interests include Genomics and Phylogenetic Studies, Chromosomal and Genetic Variations, Neurofibromatosis and Schwannoma Cases, and Meningioma and schwannoma management.
The complete sequence of a human Y chromosome
The complete sequence of a human genome
A complete reference genome improves analysis of human genetic variation
Telomere-to-telomere assembly of a complete human X chromosome
A robust benchmark for detection of germline large deletions and insertions
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1–associated atypical neurofibromas
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes
Low Incidence of DNA Sequence Variation in Human Induced Pluripotent Stem Cells Generated by Nonintegrating Plasmid Expression