Marlene Ek

Stockholm, AB, Sweden

Last Updated: 09/26/2026

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Found 16 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

Implementing electronic informed consent in rare disease genomics.

Implementing electronic informed consent in rare disease genomics.

Journal: Scientific reports
Published: October 20, 2025

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation.

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation.

Journal: Frontiers in genetics
Published: July 09, 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

Toward clinical long-read genome sequencing for rare diseases.

Toward clinical long-read genome sequencing for rare diseases.

Journal: Nature genetics
Published: November 15, 2024

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Journal: Nature genetics
Published: October 21, 2024

Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.

Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.

Journal: Scientific reports
Published: September 18, 2024

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Journal: Genome research
Published: April 25, 2024

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.

Journal: Genome research
Published: March 15, 2024

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.

Journal: Scientific reports
Published: November 28, 2023
Showing 1-12 of 16

Last Updated: 09/26/2026