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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 -
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 -
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 -
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 -
High-Capacity Adenoviral Vectors Permit Robust and Versatile Testing of DMD Gene Repair Tools and Strategies in Human Cells2020 Cells article Biochemistry, Genetics and Molecular Biology Virus-based gene therapy research Open access
Marcella Brescia, Josephine M. Janssen, Jin Liu, Manuel A.F.V. Gonçalves
30citations -
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Soha Sewani, Mahshid Sababi Azamian, Bryce A. Mendelsohn, Frédéric Tran Mau‐Them, Manon Réda, Sophie Nambot, +17 more
16citations -
Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb12021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nanda Boon, C. Henrique Alves, Aat A. Mulder, Charlotte A. Andriessen, Thilo M. Buck, Peter M. J. Quinn, +4 more
14citations -
Automated CRISPR/Cas9-based genome editing of human pluripotent stem cells using the StemCellFactory2024 Frontiers in Bioengineering and Biotechnology article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Bastian Nießing, Yannik Breitkreuz, Andreas Elanzew, Marcelo A. S. Toledo, P. Vajs, M. Nolden, +9 more
8citations -
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Ariane Kröll‐Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Élise Schaefer, Sophie Scheidecker, +80 more
1citations