List of publications
Journal Article (5)
1.
Journal Article
44 (10), pp. 1104 - 1110 (2012)
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nature Genetics 2.
Journal Article
91 (4), pp. 694 - 702 (2012)
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 3.
Journal Article
90 (1), pp. 61 - 8 (2012)
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. The American Journal of Human Genetics 4.
Journal Article
28 (5), pp. 619 - 27 (2012)
Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS. Bioinformatics 5.
Journal Article
28 (7), pp. 1024 - 1025 (2012)
Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads. Bioinformatics