Search filters

List of works by Jesper Eisfeldt

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

scientific article published on 01 April 2022

AMYCNE: Confident copy number assessment using whole genome sequencing data.

scientific article published on 26 March 2018

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

scientific article published on 22 August 2018

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

scientific article published on 13 October 2020

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

scientific article published on 12 November 2018

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

scientific article published on 29 January 2020

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

scientific article published on 10 May 2017

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

scientific article published on 03 March 2020

Paulina is supported by:

About Paulina

Help