Isaac J. Nijman

Sambamba: fast processing of NGS alignment formats

Edwin Cuppen, Albert J. Vilella, Pjotr Prins, 2015, Bioinform..

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Alexandros Kanterakis, Mark Santcroos, David van Enckevort, 2016, Nature Communications.

Tissue-specific mutation accumulation in human adult stem cells during life

Hans Clevers, Nobuo Sasaki, Edwin Cuppen, 2016, Nature.

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Deborah I. Ritter, Wigard P. Kloosterman, Stef van Lieshout, 2016, The Journal of clinical investigation.

Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries

Edwin Cuppen, Victor Guryev, Michal Mokry, 2010, Nucleic acids research.