Papers matching “variant allele frequency” 83
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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 -
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 -
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 -
The lysine-specific demethylase 1 (LSD1) inhibitor bomedemstat in myelofibrosis: results from a phase 1/2 study2026 Blood Advances article Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Harinder Gill, Abdulraheem Yacoub, Aaron Thomas Gerds, Jake Shortt, James M. Rossetti, Adam J. Mead, +16 more
2citations -
P1048: MYF3001: A RANDOMIZED OPEN LABEL, PHASE 3 STUDY TO EVALUATE IMETELSTAT VERSUS BEST AVAILABLE THERAPY IN PATIENTS WITH INTERMEDIATE-2 OR HIGH-RISK MYELOFIBROSIS REFRACTORY TO JANUS KINASE INHIBITOR
John O Mascarenhas, Claire N. Harrison, Jean‐Jacques Kiladjian, Rami S. Komrokji, Steffen Koschmieder, Alessandro Maria Vannucchi, +11 more
1citations -
Hierarchical mathematical modelling of patients with myeloproliferative neoplasms captures interferon-α treatment responses and allows for personalised and population predictions2026 Mathematical Biosciences article Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Tobias Idor Boklund, Gurvan Hermange, Jordan Snyder, Johanne Gudmand‐Hoeyer, Morten Kranker Larsen, Trine Alma Knudsen, +7 more
0citations -
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome2020 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Carla Eßinger, Stephanie Karch, Ute Moog, György Fekete, Anna Lengyel, Éva Pinti, +2 more
17citations -
Efficacy and safety of avapritinib in advanced systemic mastocytosis: interim analysis of the phase 2 PATHFINDER trial2021 Nature Medicine article Immunology and Microbiology Mast cells and histamine Open access cited by 1 patent
Jason R. Gotlib, Andreas Reiter, Deepti H. Radia, Michael W. Deininger, Tracy I. George, Jens Panse, +18 more
151citations