Selected Publications (Google Scholar profile)

DOI:10.1038/nature15394

1000 Genomes Structural Variant Calling: A catalogue of human genetic structural variation.

DOI:10.1038/s41467-018-08148-z

Haplotype-resolved Stuctural Variant Calling: Multi-platform discovery of haplotype-resolved structural variation in human genomes.

DOI:10.1126/science.abf7117

Haplotype-resolved Human Genomes: Haplotype-resolved diverse human genomes and integrated analysis of structural variation.

Cancer Genomics Publications

DOI:10.1016/j.xgen.2023.100281

Long-read sequencing of a cancer genome: Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures.

DOI:10.1016/j.cell.2011.12.013

Chromothripsis in Medulloblastoma: Genome sequencing of pediatric medulloblastoma samples to understand complex, somatic DNA rearrangements.

DOI:10.3324/haematol.2015.129692

Relapses of T-cell acute lymphoblastic leukemia: Pediatric T-cell acute lymphoblastic leukemia evolves into relapse by clonal selection and acquisition of mutations.

DOI:10.3324/haematol.2014.104992

Activating STAT5B N642H mutations in T-cell acute lymphoblastic leukemia: The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse.

DOI:10.1038/s41586-019-1815-x

The molecular landscape of ETMR at diagnosis and relapse: ETMR tumours in which the proposed driver C19MC2 was not amplified frequently had germline mutations in DICER1 or other microRNA-related aberrations.

DOI:10.1038/s41586-020-1969-6

Pan-Cancer Analysis: Germline determinants of the somatic mutation landscape in 2,642 cancer genomes.

Rare Disease Publications

DOI:10.1016/j.jaci.2013.02.012

Severe combined immunodeficiency: CARD11 inactivation leads to severe combined immunodeficiency.

DOI:10.1182/blood.2021013519

Novel subtype of hemochromatosis: Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction

Web Applications for Molecular Biologists

DOI:10.1186/s12864-020-6635-8

www.gear-genomics.com: Genome Analysis Server with interactive and efficient web applications for molecular biologists.

Computational Biology Methods

DOI:10.1093/bioinformatics/bts378

Delly: Structural variant discovery by integrated paired-end and split-read analysis.

DOI:10.1093/bioinformatics/bty1007

Alfred: BAM alignment statistics, feature counting and feature annotation.

DOI:10.1186/s12864-020-6635-8

Tracy: Basecalling, alignment and deconvolution of Sanger Chromatogram trace files.

DOI:10.1016/j.xgen.2023.100281

Wally: Visualization of aligned sequencing reads and contigs.

DOI:10.1093/bioinformatics/btz719

Visor: Variant simulator for short, long and linked reads

SeqAn Contributions

DOI:10.1186/1471-2105-9-11

SeqAn: An efficient, generic C++ library for sequence analysis.

DOI:10.1093/bioinformatics/btn281

Multiple Sequence Alignment: Segment-based multiple sequence alignment using SeqAn.

Publications

A full list of co-authored publications is available on Google Scholar.

Publications and peer review statistics are also available on ORCID.