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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 -
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 -
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
5citations -
Design and performance of a long-read sequencing panel for pharmacogenomics2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Maaike van der Lee, Loes Busscher, Roberta Menafra, Qinglian Zhai, Redmar R. van den Berg, Sarah B. Kingan, +6 more
2citations -
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 -
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare other Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 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 -
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare other Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka 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
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 -
De novo whole genome assembly of the globally invasive green shore crab Carcinus maenas (Linnaeus, 1758) via long-read Oxford Nanopore MinION sequencing2025 bioRxiv (Cold Spring Harbor Laboratory) preprint 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 -
Microbial diversity characterization of seawater in a pilot study using Oxford Nanopore Technologies long-read sequencing2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Michael K. Liem, A.J.G. Regensburg-Tuïnk, Christiaan V. Henkel, Herman P. Spaink
2citations -
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 -
Microbial diversity characterization of seawater in a pilot study using Oxford Nanopore Technologies long-read sequencing2021 BMC Research Notes article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Michael K. Liem, Tonny J. G. Regensburg‐Tuïnk, Christiaan V. Henkel, Hans J. Jansen, Herman P. Spaink
10citations -
Microbial diversity characterization of seawater in a pilot study using Oxford Nanopore Technologies long-read sequencing2020 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Michael K. Liem, Tonny J. G. Regensburg‐Tuïnk, Christiaan V. Henkel, Hans J. Jansen, Herman P. Spaink
1citations -
Microbial diversity characterization of seawater in a pilot study using Oxford Nanopore Technologies long-read sequencing2020 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Michael K. Liem, A.J.G. Regensburg-Tuïnk, C.V. Henkel, Herman P. Spaink
1citations -
Additional file 2 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Additional file 2 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Additional file 1 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Additional file 1 of Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Comparison and benchmark of structural variants detected from long read and long-read assembly2023 Briefings in Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Peng Jia, Songbo Wang, Walter A. Kosters, Kai Ye
15citations