Jesper J. Eisfeldt

Karolinska Institutet Science Park
Solna, AB, Sweden

Last Updated: 09/26/2026

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Found 69 publications

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Journal: Research square

Published: January 08, 2026

Moving beyond monogenic disorders in clinical healthcare.

Moving beyond monogenic disorders in clinical healthcare.

Journal: Nature biotechnology

Published: January 06, 2026

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.

Journal: American journal of medical genetics. Part A

Published: November 11, 2025

Hybrid Sequencing Characterization of Complex Chromosomal Rearrangements.

Hybrid Sequencing Characterization of Complex Chromosomal Rearrangements.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: August 30, 2025

Flexible and rapid validation of structural variation using adaptive sampling.

Flexible and rapid validation of structural variation using adaptive sampling.

Journal: European journal of human genetics : EJHG

Published: August 06, 2025

Novel activating SNRNP70-ALK fusion in congenital infant-type hemispheric glioma displays clinical response to lorlatinib: a case-report.

Novel activating SNRNP70-ALK fusion in congenital infant-type hemispheric glioma displays clinical response to lorlatinib: a case-report.

Journal: NPJ precision oncology

Published: July 10, 2025

Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.

Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.

Journal: Genome research

Published: July 09, 2025

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.

Journal: Genome medicine

Published: June 10, 2025

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

Journal: Genome medicine

Published: May 31, 2025

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis.

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis.

Journal: Bioinformatics (Oxford, England)

Published: May 24, 2025

The Role of the Cysteamine Dioxygenase (ADO) Gene in Atopic Dermatitis.

The Role of the Cysteamine Dioxygenase (ADO) Gene in Atopic Dermatitis.

Journal: Acta dermato-venereologica

Published: May 07, 2025

Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.

Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.

Journal: Scientific reports

Published: March 25, 2025

Showing 1-12 of 69

Last Updated: 09/26/2026