Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genomics and Phylogenetic Studies, and Chromosomal and Genetic Variations.
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
Long-read whole-genome analysis of human single cells
DLG4-related synaptopathy: a new rare brain disorder
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0)
Mutations in <i>HECW2</i> are associated with intellectual disability and epilepsy
The Database of Genomic Variants: a curated collection of structural variation in the human genome
Genome-wide Association Study of Susceptibility Loci for Cervical Cancer
Diagnostic interpretation of array data using public databases and internet sources
Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2