Area of research
Genetics · Cancer Research
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genomics and Rare Diseases, and CRISPR and Genetic Engineering.
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain
Gene expression and chromatin conformation of microglia in virally suppressed people with HIV
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Control-independent mosaic single nucleotide variant detection with DeepMosaic
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Somatic mosaicism reveals clonal distributions of neocortical development
Developmental and temporal characteristics of clonal sperm mosaicism
Comprehensive identification of somatic nucleotide variants in human brain tissue
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly
How About Playing Games as a Career? The Evolution of E-Sports in the Eyes of Mainstream Media and Public Relations
Communicating in a proper way: How people from high-/low-context culture choose their media for communication
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Comprehensive identification of somatic nucleotide variants in human brain tissue
Autism risk in offspring can be assessed through quantification of male sperm mosaicism
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephaly