Publications

(2023). Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS. npj Genomic Medicine.

DOI

(2021). SomaMutDB: a database of somatic mutations in normal human tissues. In Nucleic Acids Research.

PDF Cite DOI

(2020). Identifying genome structural variations in single cells. In Nature Methods (In submission).