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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 -
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 -
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 -
Long-term follow-up of patients with anti-cyclic citrullinated peptide antibody-positive connective tissue disease: a retrospective observational study including information on the HLA-DRB1 allele and citrullination dependency2020 Arthritis Research & Therapy article Medicine Rheumatoid Arthritis Research and Therapies Open access
Takeshi Iwasaki, Shuichiro Nakabo, Chikashi C. Terao, Kosaku Murakami, Ran Nakashima, Motomu Hashimoto, +11 more
5citations -
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Jonas M. den Heijer, Arnoud Schmitz, Peter T. Lansbury, Valerie Cullen, Dana C. Hilt, Vincenzo Bonifati, +1 more
6citations -
Prevalence of ABCB1 3435C>T polymorphism in the Cuban population2021 Drug Metabolism and Personalized Therapy article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism
Idania Rodeiro, J. Herrera, Elizabeth Cuétara, Gabino Garrido, Elizabeth Reyes Reyes, Ioanna Martínez, +6 more
2citations -
pmTR database: population matched (pm) germline allelic variants of T-cell receptor (TR) loci2022 Genes and Immunity article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Julian Dekker, Jacques J. M. van Dongen, Marcel J. T. Reinders, Indu Khatri
8citations -
Mapping the Pharmacogenetic Landscape in a Ugandan Population: Implications for Personalized Medicine in an Underrepresented Population2024 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Sumudu Rangika Samarasinghe, Seung‐been Lee, Manuel Corpas, Segun Fatumo, Henk‐Jan Guchelaar, Shivashankar Hiriyur Nagaraj
8citations -
Alpha-1 Antitrypsin Deficiency Alleles in Non-Cirrhotic Hepatocellular Carcinoma: Insights from a Multicenter French Cohort2026 Journal of Clinical and Experimental Hepatology article Medicine Hepatocellular Carcinoma Treatment and Prognosis Open access
Aurélie Bèaufrere, Céline Léon, Marie Decraecker, Laurent Possenti, Manon Evain, Audrey Coilly, +12 more
0citations -
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 -
Improving stool sample processing and pyrosequencing for quantifying benzimidazole resistance alleles in Trichuris trichiura and Necator americanus pooled eggs2021 Parasites & Vectors article Immunology and Microbiology Parasites and Host Interactions Open access
Javier Gandasegui, Berta Grau-Pujol, María Cambra-Pellejà, Valdemiro Escola, Maria Antonietta Demontis, Anélsio Cossa, +5 more
7citations -
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 -
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Tarik Luisman, Tara M. Smith, Shawn A. Ritchie, Karen E. Malone
16citations -
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