Papers matching “variant allele frequency” 113
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Clonogenic assays improve determination of variant allele frequency of driver mutations in myeloproliferative neoplasms2022 Annals of Hematology article Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Milena Kalmer, Kristina Pannen, Rebecca Lemanzyk, Chiara Wirths, Julian Baumeister, Angela Maurer, +7 more
8citations -
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy2022 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Katja Eggermann, Robert Meyer, Matthias Begemann, Daniela Dey, E. Bültmann, Ingo Kurth, +2 more
4citations -
Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels2020 Circulation Genomic and Precision Medicine article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Zhe Wang, Han Chen, Traci M. Bartz, Lawrence F. Bielak, Daniel I. Chasman, Mary Furlan Feitosa, +33 more
12citations -
Mathematical modelling of stem and progenitor cell dynamics during ruxolitinib treatment of patients with myeloproliferative neoplasms2024 Frontiers in Immunology article Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Tobias Idor Boklund, Johanne Gudmand‐Hoeyer, Morten Kranker Larsen, Trine Alma Knudsen, Christina Schjellerup Eickhardt‐Dalbøge, Vibe Skov, +5 more
8citations -
Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Tianzhong Yang, Victoria E. Jackson, Albert V. Smith, Han Chen, Traci M. Bartz, Colleen M. Sitlani, +41 more
5citations -
A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
0citations -
Liquid biopsy in BALF is now suitable for clinical practice in patients with suspected NSCLC2025 Lung Cancer article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Frank Johannes Borm, M J Schelhaas, Elisabeth M. P. Steeghs, K R Van Wijngaarden, Demi van Egmond, Jasper N. Smit, +4 more
2citations -
Deciphering the complex clonal heterogeneity of polycythemia vera and the response to interferon alpha2023 Research Square preprint Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Milena Kalmer, Martin Graßhoff, Tiago Maié, Kristina Pannen, Marcelo A. S. Toledo, Margherita Vieri, +13 more
2citations -
Clonal haematopoiesis of indeterminate potential and impaired kidney function—A Danish general population study with 11 years follow‐up2022 European Journal Of Haematology article Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Morten Kranker Larsen, Vibe Skov, Lasse Kjær, Natascha A. Møller‐Palacino, Rasmus Kristoffer Pedersen, Morten Andersen, +14 more
18citations -
The JAK2V617F and CALR mutations and risk of cancer, cardiovascular diseases, and all‐cause mortality2025 Journal of Internal Medicine article Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Morten Kranker Larsen, Vibe Skov, Lasse Kjær, Christina Schjellerup Eickhardt‐Dalbøge, Trine Alma Knudsen, Marie Hvelplund Kristiansen, +11 more
15citations -
Safety and efficacy of INCA033989, a novel first in class mutant calreticulin-specific monoclonal antibody, in patients with essential thrombocythemia2025 Blood conference-abstract Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Vikas Gupta, John O Mascarenhas, Haris Ali, David M. Ross, Abdulraheem Yacoub, Tania Jain, +27 more
10citations