1. Wood, Katherine A, Ellingford, Jamie M, Thomas, Huw B, O'Keefe, Raymond T, Newman, William G. 2021. Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome. In Clinical genetics, 101, 255-259. doi:10.1111/cge.14082. https://pubmed.ncbi.nlm.nih.gov/34713892/
2. Wood, Katherine A, Rowlands, Charlie F, Thomas, Huw B, Newman, William G, O'Keefe, Raymond T. 2020. Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells. In PloS one, 15, e0233582. doi:10.1371/journal.pone.0233582. https://pubmed.ncbi.nlm.nih.gov/32735620/
3. Wood, Katherine A, Eadsforth, Megan A, Newman, William G, O'Keefe, Raymond T. 2021. The Role of the U5 snRNP in Genetic Disorders and Cancer. In Frontiers in genetics, 12, 636620. doi:10.3389/fgene.2021.636620. https://pubmed.ncbi.nlm.nih.gov/33584830/
4. Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, Mathijssen, Irene M J, Hurst, Jane A. 2017. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. In European journal of human genetics : EJHG, 25, 1126-1133. doi:10.1038/ejhg.2017.107. https://pubmed.ncbi.nlm.nih.gov/28905882/
5. Liu, Xian, Dou, Lin-Xia, Han, Junhai, Zhang, Zi Chao. 2020. The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor. In The Journal of biological chemistry, 295, 4093-4100. doi:10.1074/jbc.RA119.012214. https://pubmed.ncbi.nlm.nih.gov/32041777/
6. Li, Yifan, Zhu, Qiaozhen, Zhou, Shuchang, Du, Aoyu, Qin, Changjiang. 2023. Combined bulk RNA and single-cell RNA analyses reveal TXNL4A as a new biomarker for hepatocellular carcinoma. In Frontiers in oncology, 13, 1202732. doi:10.3389/fonc.2023.1202732. https://pubmed.ncbi.nlm.nih.gov/37305572/
7. Beauchamp, Marie-Claude, Alam, Sabrina Shameen, Kumar, Shruti, Jerome-Majewska, Loydie Anne. 2020. Spliceosomopathies and neurocristopathies: Two sides of the same coin? In Developmental dynamics : an official publication of the American Association of Anatomists, 249, 924-945. doi:10.1002/dvdy.183. https://pubmed.ncbi.nlm.nih.gov/32315467/
8. Wieczorek, Dagmar, Newman, William G, Wieland, Thomas, Lüdecke, Hermann-Josef, Strom, Tim M. 2014. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. In American journal of human genetics, 95, 698-707. doi:10.1016/j.ajhg.2014.10.014. https://pubmed.ncbi.nlm.nih.gov/25434003/
智鼠故事 
