1. Rubin, Berish Y, Anderson, Sylvia L. 2017. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. In The application of clinical genetics, 10, 95-103. doi:10.2147/TACG.S129638. https://pubmed.ncbi.nlm.nih.gov/29290691/
2. Waszak, Sebastian M, Robinson, Giles W, Gudenas, Brian L, Northcott, Paul A, Pfister, Stefan M. 2020. Germline Elongator mutations in Sonic Hedgehog medulloblastoma. In Nature, 580, 396-401. doi:10.1038/s41586-020-2164-5. https://pubmed.ncbi.nlm.nih.gov/32296180/
3. González-Duarte, Alejandra, Cotrina-Vidal, Maria, Kaufmann, Horacio, Norcliffe-Kaufmann, Lucy. 2023. Familial dysautonomia. In Clinical autonomic research : official journal of the Clinical Autonomic Research Society, 33, 269-280. doi:10.1007/s10286-023-00941-1. https://pubmed.ncbi.nlm.nih.gov/37204536/
4. Chaverra, Marta, Cheney, Alexandra M, Scheel, Alpha, Copié, Valérie, Lefcort, Frances. 2024. ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis. In The Journal of neuroscience : the official journal of the Society for Neuroscience, 44, . doi:10.1523/JNEUROSCI.2253-23.2024. https://pubmed.ncbi.nlm.nih.gov/39138000/
5. Morini, Elisabetta, Gao, Dadi, Logan, Emily M, Talkowski, Michael E, Slaugenhaupt, Susan A. 2021. Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage. In Journal of genetics and genomics = Yi chuan xue bao, 49, 654-665. doi:10.1016/j.jgg.2021.11.011. https://pubmed.ncbi.nlm.nih.gov/34896608/
6. Slaugenhaupt, Susan A, Gusella, James F. . Familial dysautonomia. In Current opinion in genetics & development, 12, 307-11. doi:. https://pubmed.ncbi.nlm.nih.gov/12076674/
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