Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetic Associations and Epidemiology, and Genomics and Phylogenetic Studies.
Mapping and characterization of structural variation in 17,795 human genomes
Exome sequencing of Finnish isolates enhances rare-variant association power
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
The impact of structural variation on human gene expression
The impact of rare variation on gene expression across tissues
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders
SpeedSeq: ultra-fast personal genome analysis and interpretation
Mutations in DCHS1 cause mitral valve prolapse
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities