Using genetic editing, I am investigating how RUNX1 mutations contribute to disease.
Oncogenic IDH1 and IDH2 mutations contribute to cancer via production of R-2-hydroxyglutarate (2-HG).
In cancer patients, tumor gene mutations contribute to drug resistance and treatment failure.
However, the degree to which these mutations contribute to breast cancer risk in the general population is unknown.
Transposable elements (TEs) are selfish elements that cause harmful mutations, contribute to the structure of regulatory networks and shape the architecture of genomes.
Here we examined the possibility that rare de novo protein-altering mutations contribute to the genetic component of schizophrenia by sequencing the exomes of 53 sporadic cases, 22 unaffected controls and their parents.
His group has contributed to and helped lead many large-scale computational and experimental collaborative projects with the goal of understanding the human genome, and how genetic mutations contribute to complex traits and human disease.
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
In human, NaV channels are therapeutic targets as their mutations contribute to many diseases.
These two mutations contribute to the aberrant PML-RARA SUMOylation and NB formation (Goto et al., 2011).
Schizophrenia genome-wide association studies have identified >150 regions of the genome associated with disease risk, yet there is little evidence that coding mutations contribute to this disorder.
