The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in...
18th May 2018 Selective nanopore sequencing of human BRCA1 by Cas9-assisted targetin… Nucleic Acids Research
27th June 2017 Mutational analysis in BCR-ABL1 positive leukemia by deep sequencing b… Experimental and Molecular Pathology
21st June 2017 Same-day genomic and epigenomic diagnosis of brain tumors using real-t… Acta Neuropathologica