1. Hutny, Michal, Lipinski, Patryk, Jezela-Stanek, Aleksandra. 2023. Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review. In Genes, 14, . doi:10.3390/genes14061208. https://pubmed.ncbi.nlm.nih.gov/37372388/
2. Rodríguez de Los Santos, Miguel, Rivalan, Marion, David, Friederike S, Winter, York, Krawitz, Peter M. . A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. In Proceedings of the National Academy of Sciences of the United States of America, 118, . doi:10.1073/pnas.2014481118. https://pubmed.ncbi.nlm.nih.gov/33402532/
3. Horn, Denise, Wieczorek, Dagmar, Metcalfe, Kay, Robinson, Peter N, Krawitz, Peter. 2013. Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. In European journal of human genetics : EJHG, 22, 762-7. doi:10.1038/ejhg.2013.241. https://pubmed.ncbi.nlm.nih.gov/24129430/
4. Wei, Liwei, Li, Yisheng, Chen, Jiawang, Yang, Huanming, Zhang, Yi. 2024. Alternative splicing in ovarian cancer. In Cell communication and signaling : CCS, 22, 507. doi:10.1186/s12964-024-01880-8. https://pubmed.ncbi.nlm.nih.gov/39425166/
5. Thompson, Miles D, Roscioli, Tony, Marcelis, Carlo, Brunner, Han G, Cole, David E C. 2012. Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). In American journal of medical genetics. Part A, 158A, 553-8. doi:10.1002/ajmg.a.35202. https://pubmed.ncbi.nlm.nih.gov/22315194/
6. Krawitz, Peter M, Schweiger, Michal R, Rödelsperger, Christian, Mundlos, Stefan, Robinson, Peter N. 2010. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. In Nature genetics, 42, 827-9. doi:10.1038/ng.653. https://pubmed.ncbi.nlm.nih.gov/20802478/