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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Merico D, et al. Among authors: bates a. Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718. Nat Commun. 2015. PMID: 26522830 Free PMC article.
Omenn syndrome is associated with mutations in DNA ligase IV.
Grunebaum E, Bates A, Roifman CM. Grunebaum E, et al. Among authors: bates a. J Allergy Clin Immunol. 2008 Dec;122(6):1219-20. doi: 10.1016/j.jaci.2008.08.031. Epub 2008 Oct 9. J Allergy Clin Immunol. 2008. PMID: 18845326 No abstract available.
Neurotransmitter classification from electron microscopy images at synaptic sites in Drosophila melanogaster.
Eckstein N, Bates AS, Champion A, Du M, Yin Y, Schlegel P, Lu AK, Rymer T, Finley-May S, Paterson T, Parekh R, Dorkenwald S, Matsliah A, Yu SC, McKellar C, Sterling A, Eichler K, Costa M, Seung S, Murthy M, Hartenstein V, Jefferis GSXE, Funke J. Eckstein N, et al. Among authors: bates as. Cell. 2024 May 9;187(10):2574-2594.e23. doi: 10.1016/j.cell.2024.03.016. Cell. 2024. PMID: 38729112 Free PMC article.
803 results