1. Sandestig, Anna, Engström, Karolina, Pepler, Alexander, Holz, Anja, Stefanova, Margarita. 2019. NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome? In Molecular syndromology, 10, 313-319. doi:10.1159/000504818. https://pubmed.ncbi.nlm.nih.gov/32021605/
2. Vishnoi, Nidhi, Dhanasekeran, Karthigeyan, Chalfant, Madeleine, Khokha, Mustafa K, Lusk, C Patrick. . Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication. In The Journal of cell biology, 219, . doi:10.1083/jcb.201906031. https://pubmed.ncbi.nlm.nih.gov/32211895/
3. de Bruyn Kops, Anne, Guthrie, Christine. 2018. Identification of the Novel Nup188-brr7 Allele in a Screen for Cold-Sensitive mRNA Export Mutants in Saccharomyces cerevisiae. In G3 (Bethesda, Md.), 8, 2991-3003. doi:10.1534/g3.118.200447. https://pubmed.ncbi.nlm.nih.gov/30021831/
4. Muir, Alison M, Cohen, Jennifer L, Sheppard, Sarah E, Song, Yuanquan, Mefford, Heather C. 2020. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. In American journal of human genetics, 106, 623-631. doi:10.1016/j.ajhg.2020.03.009. https://pubmed.ncbi.nlm.nih.gov/32275884/
5. Bulut, Gülnihal, Turgut, Gözde Tutku, Toksoy, Güven, Uyguner, Zehra Oya, Karaman, Birsen. 2024. A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus. In Molecular syndromology, 16, 69-76. doi:10.1159/000540314. https://pubmed.ncbi.nlm.nih.gov/39911172/
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