Author
RIKEN Center for Integrative Medical SciencesORCID 0000-0003-1754-5122Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Enrique Audain, Anna Wilsdon, Jeroen Breckpot…·MP Hitz
The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.
Joana Carlevaro-Fita, Andrés Lanzós, Lars Feuerbach…·S. Cenk Şahinalp
The paper introduces the Cancer LncRNA Census (CLC), a curated resource of lncRNAs with causative roles in cancer, and shows their genomic and evolutionary features.
Marta Paczkowska, Jonathan Barenboim, Nardnisa Sintupisut…·Leonidas Salichos
ActivePathways integrates multivariate omics data to identify enriched pathways, revealing cancer driver genes and prognostic pathways in breast cancer.
José M. G. Izarzugaza, Sabrina Gade Ellesøe, Canan Doğanlı…·Søren Brunak
The paper identifies calcium signalling defects as a novel cause of congenital heart disease through whole exome sequencing and functional validation in zebrafish.
Matthew A. Reyna, David Haan, Marta Paczkowska…·on behalf of the PCAWG Drivers and Functional Interpretation Group and the ICGC/TCGA Pan-Cancer Analysis of Whole Genome Network
The paper analyzes non-coding mutations across 2,583 cancer genomes to identify genes and pathways affected, finding clusters of interacting proteins and insights into cancer mechanisms.