1. Van Nuland, Abigail, Reddy, Taruna, Quassem, Farhad, Vassalli, Jean-Dominique, Berg, Anne T. 2021. PACS1-Neurodevelopmental disorder: clinical features and trial readiness. In Orphanet journal of rare diseases, 16, 386. doi:10.1186/s13023-021-02001-1. https://pubmed.ncbi.nlm.nih.gov/34517877/
2. Bruno, Lucia Pia, Doddato, Gabriella, Valentino, Floriana, Renieri, Alessandra, Ariani, Francesca. 2021. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing. In International journal of molecular sciences, 22, . doi:10.3390/ijms222413439. https://pubmed.ncbi.nlm.nih.gov/34948243/
3. Rylaarsdam, Lauren, Rakotomamonjy, Jennifer, Pope, Eleanor, Guemez-Gamboa, Alicia. 2024. iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity. In Nature communications, 15, 827. doi:10.1038/s41467-024-44989-7. https://pubmed.ncbi.nlm.nih.gov/38280846/
4. Villar-Pazos, Sabrina, Thomas, Laurel, Yang, Yunhan, Huang, Yanhua H, Thomas, Gary. 2023. RNA-targeted therapy corrects neuronal deficits in PACS1 syndrome mice. In Research square, , . doi:10.21203/rs.3.rs-2440581/v1. https://pubmed.ncbi.nlm.nih.gov/36747781/
5. Arnedo, María, Ascaso, Ángela, Latorre-Pellicer, Ana, Pié, Juan, Puisac, Beatriz. 2022. Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches. In International journal of molecular sciences, 23, . doi:10.3390/ijms23179649. https://pubmed.ncbi.nlm.nih.gov/36077045/
6. Tenorio-Castaño, Jair, Morte, Beatriz, Nevado, Julián, Carracedo, Ángel, Lapunzina, Pablo. 2021. Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. In Genes, 12, . doi:10.3390/genes12050738. https://pubmed.ncbi.nlm.nih.gov/34068396/
7. Pefkianaki, Maria, Schneider, Adele, Capasso, Jenina E, Bardakjian, Tanya, Levin, Alex V. 2018. Ocular manifestations of PACS1 mutation. In Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 22, 323-325. doi:10.1016/j.jaapos.2017.12.008. https://pubmed.ncbi.nlm.nih.gov/29550517/
智鼠故事 
