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Jelmer Legebeke

A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection
2021 · Cornelia Blume, Claire L. Jackson, et al. · Nature Genetics · 180
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In vivo selection of sfGFP variants with improved and reliable functionality in industrially important thermophilic bacteria
2018 · Elrike Frenzel, Jelmer Legebeke, et al. · Biotechnology for Biofuels · 42
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Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19
2022 · Jelmer Legebeke, Jenny Lord, et al. · Frontiers in Immunology · 18
Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19
2022 · Rebekah Penrice-Randal, Xiaofeng Dong, et al. · Frontiers in Immunology · 17
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Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia
2024 · Cornelis L. Harteveld, Ahlem Achour, et al. · International Journal of Molecular Sciences · 9
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A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies
2020 · Liliya Nazlamova, N. Simon Thomas, et al. · Human Genetics · 9
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Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia
2022 · Jelmer Legebeke, Katie L. Horton, et al. · Frontiers in Cell and Developmental Biology · 6
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis
2024 · Jelmer Legebeke, Gabrielle Wheway, et al. · Human Molecular Genetics · 5
A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family
2024 · Laura Koponen, Minna Pekkinen, et al. · JBMR Plus · 3
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Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2 -related osteoporosis
2025 · Sandra Pihlström, Ali Oghabian, et al. · JBMR Plus · 1
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Distinct immune responses in patients infected with influenza or SARS-CoV-2, and in COVID-19 survivors, characterised by transcriptomic and cellular abundance differences in blood
2021 · Jelmer Legebeke, Jenny Lord, et al. · medRxiv · 1
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Rare SERPINH1 and SERPINF1 Variants in Autosomal Recessive Osteogenesis Imperfecta Type X and Type VI
2026 · Fan Wang, Alice Costantini, et al. · European Journal of Medical Genetics
Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome
2026 · Mehmet Bugrahan Duz, Amaia Lasa-Aranzasti, et al. · BMC Medical Genomics
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition
2026 · Noah C. Helderman, Carli M. Tops, et al. · American Journal of Medical Genetics Part A
Utility of long read Nanopore sequencing as a tool for rapid insight into the host response in patients infected with SARS-CoV-2 or influenza A virus at point-of-care
2025 · Natasha Y. Rickett, Catherine Hartley, et al. · Research Square
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The utility of RNA and transcriptome analysis in improving diagnostics and understanding disease mechanism in Primary Ciliary Dyskinesia
2023 · Jelmer Legebeke, John Holloway, et al.
Transcriptome analysis of ciliary differentiation in airway epithelium
2021 · Jelmer Legebeke, Katie Horton, et al.
Primary ciliary dyskinesia and non-CF bronchiectasis in the 100,000 Genomes Project
2020 · Gabrielle Wheway, Jelmer Legebeke, et al.
Works count: 25
Citation count: 291
H-index: 6
I10-index: 4
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