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Marlene Ek

Observed names: Ek, Marlene, Marlene EK
ORCID: 0000-0001-6611-309X
Observed ORCID: 0000-0001-6611-309X
OpenAlex ID: A5070858870
Toward clinical long-read genome sequencing for rare diseases
2025 · Jesper Eisfeldt, Marlene Ek, et al. · Nature Genetics · 44
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
2022 · Anna Lindstrand, Marlene Ek, et al. · Genetics in Medicine · 37
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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
2024 · Jesper Eisfeldt, Adam Ameur, et al. · Genome Research · 20
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Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
2024 · Kristine Bilgrav Saether, Jesper Eisfeldt, et al. · Genome Research · 15
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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
2023 · Marlene Ek, Daniel Nilsson, et al. · Frontiers in Neurology · 12
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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
2024 · Angelica Maria Delgado-Vega, Helene Cederroth, et al. · Nature Genetics · 10
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
2024 · Esmee ten Berk de Boer, Adam Ameur, et al. · Scientific Reports · 10
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A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
2024 · Jakob Schuy, Kristine Bilgrav Sæther, et al. · Genetics in Medicine Open · 9
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
2026 · Marlene Ek, Malin Kvarnung, et al. · Genome Medicine · 7
Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population
2024 · Sailan Wang, Julia K. Elmgren, et al. · JID Innovations · 4
The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
2025 · Anna Lindstrand, Kristina Lagerstedt-Robinson, et al. · Research Square · 3
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The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
2026 · Anna Lindstrand, Kristina Lagerstedt-Robinson, et al. · Genome Medicine · 1
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Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis
2025 · Mansoureh Shahsavani, Josephine Wincent, et al. · Research Square · 1
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Implementing electronic informed consent in rare disease genomics
2025 · Katja Ekholm, Annelie Augustinsson, et al. · Scientific Reports · 1
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Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements
2023 · Jesper Eisfeldt, Adam Ameur, et al. · medRxiv · 1
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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
2023 · Anna Lindstrand, Marlene Ek, et al. · Pathology · 1
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A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden
2026 · Adam Ameur, Fulya Taylan, et al. · medRxiv
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T2T-resolved tumor genomes reveal recurrent acrocentric short-arm recruitment during catastrophic chromosome remodeling
2026 · de Langen, Pierre, Lindstrand, Anna, et al. · Zenodo (CERN European Organization for Nuclear Research)
Additional file 2 of The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
2026 · Lindstrand, Anna, Lagerstedt-Robinson, Kristina, et al. · Figshare
Additional file 1 of The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
2026 · Lindstrand, Anna, Lagerstedt-Robinson, Kristina, et al. · Figshare
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
2026 · Lindstrand, Anna, Lagerstedt-Robinson, Kristina, et al. · Figshare
Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
2026 · Kristine Bilgrav Saether, Angelo Salazar Mantero, et al. · Genome Research
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Additional file 1 of Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
2026 · Ek, Marlene, Kvarnung, Malin, et al. · Figshare
Additional file 2 of Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
2026 · Ek, Marlene, Kvarnung, Malin, et al. · Figshare
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
2026 · Ek, Marlene, Kvarnung, Malin, et al. · Figshare
Works count: 30
Citation count: 176
H-index: 8
I10-index: 7
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