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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 -
Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Peng Jia, Lianhua Dong, Xiaofei Yang, Bo Wang, Tingjie Wang, Jiadong Lin, +15 more
6citations -
PAV-spotter: using signal cross-correlations to identify Presence/Absence Variation in target capture data2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Manon Chantal de Visser, Chris van der Ploeg, Milena Cvijanović, Tijana Z. Vučić, Anagnostis Theodoropoulos, Ben Wielstra
4citations -
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 -
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 -
Additional file 1 of Breast cancer genomes from CHEK2 c.1100delC mutation carriers lack somatic TP53 mutations and display a unique structural variant size distribution profile2023 Figshare dataset Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Marcel Smid, Marjanka K. Schmidt, Wendy J. C. Prager‐van der Smissen, Kirsten Ruigrok-Ritstier, Maartje A. C. Schreurs, Sten Cornelissen, +8 more
0citations