Daniela Giachino

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joon-Yong An, Stephan J. Sanders, 2017, Genome Biology.

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Edwin Cuppen, Tobias Marschall, Jeroen de Ridder, 2017, Nature Communications.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Edwin Cuppen, Wigard P. Kloosterman, Markus J. van Roosmalen, 2019, Genome Medicine.

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Edwin Cuppen, Wigard P. Kloosterman, Markus J. van Roosmalen, 2019, Genome Medicine.

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Edwin Cuppen, Tobias Marschall, Wigard P. Kloosterman, 2017, bioRxiv.