Publications by authors named "Marlene Ek"

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Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation.
Andrés León, Alex S Aguirre, Anna Lindstrand, Marlene Ek, Vanessa I Romero

Front Genet· December 2025

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Toward clinical long-read genome sequencing for rare diseases.
Jesper Eisfeldt, Marlene Ek, Magnus Nordenskjöld, Anna Lindstrand

Nat Genet· June 2025

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Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.
Marlene Ek, Malin Kvarnung, Maria Pettersson, Maria Johansson Soller, Britt-Marie Anderlid

Sci Rep· December 2024

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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Ugur Ozbek

Nat Genet· November 2024

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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Jesper Eisfeldt, Adam Ameur, Felix Lenner, Esmee Ten Berk de Boer, Marlene Ek

Genome Res· November 2024

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Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, Ming Yin Lun, Christopher M Grochowski, Marlene Ek

Genome Res· November 2024

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Uncommon Variants in and Are Associated with Atopic Dermatitis in the Ethiopian Population.
Sailan Wang, Julia K Elmgren, Jesper Eisfeldt, Samina Asad, Marlene Ek, Annisa Befekadu

JID Innov· July 2024

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A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M Grochowski

Genet Med Open· June 2024

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Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.
Esmee Ten Berk de Boer, Adam Ameur, Ignas Bunikis, Marlene Ek, Eva-Lena Stattin

Sci Rep· April 2024

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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg

Front Neurol· May 2023

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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Anna Lindstrand, Marlene Ek, Malin Kvarnung, Britt-Marie Anderlid, Erik Björck, Ekaterina Kuchinskaya

Genet Med· November 2022

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