Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, and Genomics and Phylogenetic Studies.
Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants
Examining the role of common variants in rare neurodevelopmental conditions
Detection and characterization of copy-number variants from exome sequencing in the DDD study.
Substantial role of rare inherited variation in individuals with developmental disorders
The differential effects of common and rare genetic variants on cognitive performance across development
Detection and characterisation of copy number variants from exome sequencing in the DDD study
Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations
Effects of somatic mutations on cellular differentiation in iPSC models of neurodevelopment
Twelve years of SAMtools and BCFtools
Twelve years of SAMtools and BCFtools.
HTSlib: C library for reading/writing high-throughput sequencing data
HTSlib: C library for reading/writing high-throughput sequencing data.
Genetic and chemotherapeutic causes of germline hypermutation
Insights into human genetic variation and population history from 929 diverse genomes
Insights into human genetic variation and population history from 929 diverse genomes.
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression
Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes
Population-scale proteome variation in human induced pluripotent stem cells
Publisher Correction: Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression
HTSlib - C library for reading/writing high-throughput sequencing data
Detecting cryptic clinically-relevant structural variation in exome sequencing data increases diagnostic yield for developmental disorders
Contribution of retrotransposition to developmental disorders
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci
Ancient human parallel lineages within North America contributed to a coastal expansion
Cardelino: Integrating whole exomes and single-cell transcriptomes to reveal phenotypic impact of somatic variants
Common genetic variation drives molecular heterogeneity in human iPSCs
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
A reference panel of 64,976 haplotypes for genotype imputation