Papers matching “single nucleotide polymorphism analysis” 92
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Allele-specific digital PCR enhances precision and sensitivity in the detection and quantification of copy number alterations in heterogeneous DNA samples: an in silico and in vitro validation study2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Rogier J. Nell, Mieke Versluis, Willem H. Zoutman, Gregorius P. M. Luyten, Martine Johanna Jager, Pieter A. van der Velden
5citations -
Deep-amplicon sequencing of the complete beta-tubulin gene in Trichuris trichiura before and after albendazole treatment2024 International Journal for Parasitology Drugs and Drug Resistance article Immunology and Microbiology Parasites and Host Interactions Open access
Javier Gandasegui, Berta Grau-Pujol, Valdemiro Novela, Osvaldo Muchisse, María Cambra-Pellejà, Anélsio Cossa, +9 more
3citations -
Heme is crucial for medium-dependent metronidazole resistance in clinical isolates of C. difficile2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Clostridium difficile and Clostridium perfringens research Open access
Ilse M. Boekhoud, Igor A. Sidorov, Sam Nooij, Céline Harmanus, Ingrid M. J. G. Bos-Sanders, Virginie F. Viprey, +6 more
2citations -
Variants of IL6, IL10, FCN2, RNASE3, IL12B and IL17B loci are associated with Schistosoma mansoni worm burden in the Albert Nile region of Uganda2023 PLoS neglected tropical diseases article Immunology and Microbiology Parasites and Host Interactions Open access
Oscar A. Nyangiri, Julius Mulindwa, Joyce Namulondo, Anna Kitibwa, Jacent Nassuuna, Alison M. Elliott, +10 more
2citations -
Associations of a breast cancer polygenic risk score with tumor characteristics and survival.2022 Journal of Clinical Oncology conference-abstract Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Josephine Lopes Cardozo, Irene Louise Andrulis, Devilee Peter, Thilo Dörk, Caroline A. Drukker, Peter Andreas Fasching, +11 more
2citations -
Association of the Genetic Variant VEGFA rs3025039 with Incidence and Prognosis of Cholangiocarcinoma2025 Zeitschrift für Gastroenterologie conference-paper Medicine Cholangiocarcinoma and Gallbladder Cancer Studies
Justus Pein, Saskia Niklisch, Deniz Uluk, Carolin Victoria Schneider, Linda Hammerich, Cornelius Engelmann, +7 more
0citations -
Systematic mediation and interaction analyses of kidney function genetic loci in a general population study2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Dariush Ghasemi-Semeskandeh, David B. Emmert, E. König, Luisa Foco, Martin Gögele, Laura Barin, +5 more
2citations -
Systematic mediation and interaction analyses of kidney function genetic loci in a general population study2025 PLoS ONE article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Dariush Ghasemi-Semeskandeh, David B. Emmert, Eva König, Luisa Foco, Martin Gögele, Mohamed S. Sarhan, +6 more
2citations -
O-090 Correcting a PLCζ mutation in the human germ line to overcome hereditary infertility2021 Human Reproduction conference-abstract Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering
Bieke Bekaert, Annekatrien Boel, Mina Popovic, P Stamatiadis, Susana M. Chuva de Sousa Lopes, Petra De Sutter, +4 more
0citations -
546. Transmission of Candida auris FKS1 Mutations in Orange County, CA2026 Open Forum Infectious Diseases article Medicine Antifungal resistance and susceptibility Open access
Jennifer Brown, Denise Tirol, Elizabeth Kryger, Gabrielle Villareal, Cherry Q Fontela, Angelica Torres, +5 more
1citations -
A Genome‐Wide Association Study of Endoxifen Serum Concentrations and Adjuvant Tamoxifen Efficacy in Early‐Stage Breast Cancer Patients2024 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Anabel Sanchez‐Spitman, Stefan Böhringer, Vincent Olaf Dezentjé, Hans A. J. Gelderblom, Jesse Joachim Swen, Henk‐Jan Guchelaar
11citations -
Factors associated with the progression of gastric intestinal metaplasia: a multicenter, prospective cohort study2021 Endoscopy International Open article Medicine Helicobacter pylori-related gastroenterology studies Open access
Michiel C. Mommersteeg, Ellis L. Eikenboom, Stella A. V. Nieuwenburg, Bingting Yu, Wouter J. den Hollander, Ingrid Lisanne Holster, +14 more
27citations -
P-802 Distinct genetic impact of CRISPR/Cas9 gene correction in human embryos compared to induced pluripotent stem cells2022 Human Reproduction article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Bieke Bekaert, Annekatrien Boel, Lisa De Witte, Gwenny Cosemans, Lise Tordeurs, A M De Loore, +6 more
0citations -
Association of bronchial steroid inducible methylation quantitative trait loci with asthma and chronic obstructive pulmonary disease treatment response2022 Clinical and Translational Allergy article Medicine Asthma and respiratory diseases Open access
Elise M. A. Slob, Alen Faiz, Jos van Nijnatten, Susanne J. H. Vijverberg, Cristina Longo, Merve Kutlu, +29 more
1citations -
Hospital transmission of borderline oxacillin-resistant Staphylococcus aureus evaluated by whole-genome sequencing2021 Journal of Medical Microbiology article Medicine Antimicrobial Resistance in Staphylococcus Open access
Maria M. Konstantinovski, Karin Ellen Veldkamp, Adriana P.M. Lavrijsen, Thijs Bosch, Margriet E. M. Kraakman, Sam Nooij, +2 more
17citations -
ABS0141 SYSTEMATIC REVIEW AND INDEPENDENT VALIDATION OF GENETIC FACTORS OF RADIOGRAPHIC OUTCOME IN RHEUMATOID ARTHRITIS IDENTIFIES A GENOME-WIDE ASSOCIATION WITH CARD92025 Annals of the Rheumatic Diseases conference-abstract Medicine Rheumatoid Arthritis Research and Therapies Open access
Seema Sharma, Ryan Malcolm Hum, Nisha Nair, Lysette Marshall, A. Storrie, John Bowes, +9 more
0citations -
Local adaptation to current but not future climate in seasonally tropical dry forests: population genomic evidence in a Neotropical legume tree2026 Zenodo (CERN European Organization for Nuclear Research) other Biochemistry, Genetics and Molecular Biology Genetic diversity and population structure Open access
Francisco J. Velásquez-Puentes, Walter Durka, C H Hughes, R. Toby Pennington, Jens J. Ringelberg, Christopher D. Barratt, +1 more
0citations -
Ancestry-associated transcriptomic profiles of breast cancer in patients of African, Arab, and European ancestry2021 npj Breast Cancer article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Jessica P Roelands, Raghvendra Mall, Hossam Almeer, Remy Thomas, Mahmoud G. Mohamed, Shahinaz Ahmed Bedri, +8 more
45citations