An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice
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EBioMedicine - ISSN 2352-3964-128 (2026) p.
An NGS-based approach for precise and footprint-free CRISPR-based gene editing in human stem cells
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Methods: a companion to methods in enzymology - ISSN 1046-2023-241 (2025) p. 33-42
Paracentric inversion disrupting the SHANK2 gene
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European journal of medical genetics - ISSN 1769-7212-75 (2025) p. 1-11
Identification of a DLG3 stop mutation in the MRX20 family
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European journal of human genetics - ISSN 1018-4813-32 (2024) p. 317-323