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Preprints

Dofash LNH; Monahan G; Servián-Morilla E; Rivas E; Faiz F; Sullivan P; Oates E; Clayton J; Taylor RL; Davis MR; Beilharz T; Laing NG; Cabrera-Serrano M; Ravenscroft G, A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism, http://dx.doi.org/10.1101/2022.08.08.22278402

Su Z; Fang M; Smolnikov A; Vafaee F; Dinger ME; Oates EC, Genes in Humans and Mice: Insights from Deep learning of 777K Bulk Transcriptomes, http://dx.doi.org/10.1101/2024.04.01.587517

Cummings BB; Marshall JL; Tukiainen T; Lek M; Donkervoort S; Foley AR; Bolduc V; Waddell L; Sandaradura S; O’Grady G; Estrella E; Reddy HM; Zhao F; Weisburd B; Karczewski KJ; O’Donnell-Luria AH; Birnbaum D; Sarkozy A; Hu Y; Gonorazky H; Claeys K; Joshi H; Bournazos A; Oates EC; Ghaoui R; Davis M; Laing N; Topf A; Consortium G; Kang PB; Beggs AH; North KN; Straub V; Dowling J; Muntoni F; Clarke NF; Cooper ST; Bonnemann CG; MacArthur DG, Improving genetic diagnosis in Mendelian disease with transcriptome sequencing, http://dx.doi.org/10.1101/074153

Su Z; Fang M; Smolnikov A; Dinger ME; Oates EC; Vafaee F, Multifaceted Representation of Genes via Deep Learning of Gene Expression Networks, http://dx.doi.org/10.1101/2024.03.07.583777


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