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Exploring Nanopore Direct Sequencing Performance of Forensic Strs, Snps, Indels, and DNA Methylation Markers in a Single Assay2024 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology Forensic and Genetic Research Open access
Desiree D S H de Bruin, Martin A. Haagmans, Kristiaan J. van der Gaag, Jerry Hoogenboom, Niccoló Tesi, Alex Salazar, +5 more
2citations -
Deep structured learning for variant prioritization in Mendelian diseases2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Matt Christopher Danzi, Maike Franziska Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vívian Pedigone Cintra, +1 more
46citations -
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 -
Comparative Analysis of Methods for Assessing On-Target Gene Editing Efficiencies2025 Methods and Protocols article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Bing Yao, Qiangbing Yang, Manuel A.F.V. Gonçalves, Raymond Michel Schiffelers, Joost P. G. Sluijter, Zhiyong Lei
6citations -
A graph-based approach to variant description extraction from sequences2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Mark Santcroos, Walter A. Kosters, Mihai Lefter, Jeroen F. J. Laros, Jonathan K. Vis
0citations -
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations2022 Nature Communications article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 1 patent
Ida Höijer, Anastasia Emmanouilidou, Rebecka Östlund, Robin van Schendel, Selma Bozorgpana, Marcel Tijsterman, +4 more
196citations -
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 -
PyVADesign: a Python-based cloning tool for one-step generation of large mutant libraries2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Rosan C.M. Kuin, Meindert Hugo Lamers, Gerard J. P. van Westen
1citations -
Comparison and benchmark of structural variants detected from long read and long read assembly2023 Zenodo (CERN European Organization for Nuclear Research) article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Peng Jia, Songbo Wang, Walter A. Kosters, Kai Ye
1citations -
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Ida Höijer, Anastasia Emmanouilidou, Rebecka Östlund, Robin van Schendel, Selma Bozorgpana, Lars Feuk, +3 more
0citations -
Variant Calling in the Dark Genome: Benchmarking SNV Calls in the Flanks of Structural Variants2026 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ningxin Dang, Peng Jia, Jiadong Lin, Yongyong Kang, Z K Li, Kai Ye, +1 more
0citations -
Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay2020 PLoS ONE article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 1 patent
Pin Lyu, Kyung Whan Yoo, Manish Yadav, Anthony Atala, Annemieke M Aartsma-Rus, Maaike van Putten, +1 more
10citations -
Tobacco Smoking-Related Mutational Signatures in Classifying Smoking-Associated and Nonsmoking-Associated NSCLC2022 Journal of Thoracic Oncology article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Sophie M. Ernst, Joanne M. Mankor, Job van Riet, Jan H. von der Thüsen, Hendrikus Jan Dubbink, Joachim G.J.V. Aerts, +4 more
48citations -
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, +49 more
3citations -
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, +48 more
1citations -
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 -
The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution2020 Nature Communications article Medicine Genetic factors in colorectal cancer Open access cited by 1 patent
Alexej Ballhausen, Moritz Jakob Przybilla, Michael Adrian Jendrusch, Saskia Haupt, Elisabeth Pfaffendorf, Florian Seidler, +24 more
138citations