Area of research
Genetics · Molecular Biology
Research interest
Research focused on Somatic cell and Genetics, with related work in Neuroscience, Wnt signaling pathway, DNA repair. Notable publications include 'Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling', 'The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing', and 'Incorporation of a nucleoside analog maps genome repair sites in postmitotic human neurons'.
Monozygotic twins discordant for schizophrenia differ in maturation and synaptic transmission
Control-independent mosaic single nucleotide variant detection with DeepMosaic
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Author Correction: Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
Somatic mosaicism reveals clonal distributions of neocortical development
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
Incorporation of a nucleoside analog maps genome repair sites in postmitotic human neurons
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling