Area of research
Genetics · Psychiatry and Mental health
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Epilepsy research and treatment.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants
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
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
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
The Landscape of Mutational Mosaicism in Autistic and Normal Human Cerebral Cortex
Exome sequencing identifies novel missense and deletion variants in <scp><i>RTN4IP1</i></scp> associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Somatic mosaicism and neurodevelopmental disease
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
Biallelic mutations in human DCC cause developmental split-brain syndrome
Somatic Mosaicism and Neurological Diseases
Somatic mutation in single human neurons tracks developmental and transcriptional history
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms
Somatic Mutations in Cerebral Cortical Malformations
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism