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The virtual reference radiologist: comprehensive AI assistance for clinical image reading and interpretation2024 European Radiology article Medicine Artificial Intelligence in Healthcare and Education Open access
Robert Malte Siepmann, Marc Huppertz, Annika Rastkhiz, Matthias Reen, Eric Corban, Christian Schmidt, +6 more
35citations -
Long‐Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants2025 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Sumudu Rangika Samarasinghe, Andrea Gaedigk, Jesse Joachim Swen, Henk‐Jan Guchelaar, Shivashankar Hiriyur Nagaraj
6citations -
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Heather Ferrao, Herma van der Linde, Evita Karelioti, +11 more
6citations -
Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC12026 Kidney International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrea Wenzel, Björn Reusch, Karl Xaver Knaup, Nikola Zagorec, Margareta Fištrek Prlić, Kerstin Becker, +8 more
1citations -
From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions of CYP2C192023 Frontiers in Pharmacology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Lonneke J. Graansma, Qinglian Zhai, Loes Busscher, Roberta Menafra, Redmar R. van den Berg, Susan L. Kloet, +1 more
17citations -
Long-read sequencing reveals that the mitochondrial genome of an individual Ixodiphagus hookeri is a mixture of structural variants with an invariable core region and heterogeneous repeat regions2026 Current Research in Parasitology and Vector-Borne Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ron P. Dirks, Hans J. Jansen, Wouter J. Veneman, Jane Segobola, Valérie O. Baede, Veronika Blažeková, +3 more
0citations -
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle2021 The Pharmacogenomics Journal article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access cited by 1 patent
Maaike van der Lee, William J. Rowell, Roberta Menafra, Henk‐Jan Guchelaar, Jesse Joachim Swen, Seyed Yahya Anvar
38citations -
De novo whole genome assembly of the globally invasive green shore crab Carcinus maenas (Linnaeus, 1758) via long-read Oxford Nanopore MinION sequencing2025 Journal of Heredity article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Jolanda K. Brons, Thomas Hackl, Riccardo Iacovelli, Kristina Haslinger, Sébastian Lequime, Sancia E. T. van der Meij
0citations -
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth A. Stafki, Elicia A. Estrella, Emily S. McGaughy, +17 more
42citations -
A Short-Read Genome Assembly Resource for Leveillula taurica Causing Powdery Mildew Disease of Sweet Pepper (Capsicum annuum)2020 Molecular Plant-Microbe Interactions article Agricultural and Biological Sciences Powdery Mildew Fungal Diseases Open access
Stefan Kusch, Márk Z. Németh, Niloofar Vaghefi, Heba M. M. Ibrahim, Ralph Panstruga, Levente Kiss
21citations -
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Daphne J. Smits, Federico Ferraro, Mark Drost, Herma C. van der Linde, Bianca M. de Graaf, Yolande van Bever, +37 more
9citations -
Substantiate a read-across hypothesis by using transcriptome data—A case study on volatile diketones2023 Frontiers in Toxicology article Biochemistry, Genetics and Molecular Biology Carcinogens and Genotoxicity Assessment Open access
Matthias M. Wehr, Walter Zobl, Jeannette Koschmann, Britta Anna Kühne, Tanja Hansen, Jan Knebel, +5 more
7citations -
Long-read assembly of the black rhinoceros genome reveals Y-chromosomal sequences2023 Zenodo (CERN European Organization for Nuclear Research) article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ken Kraaijeveld, Koen Bossers, Nikola Petrusevski, Stef Pieterman, Linda G.R. Bruins-van Sonsbeek, Floyd R. A. Wittink
2citations