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Frankish, Adam; Diekhans, Mark; Ferreira, Anne-Maud; Johnson, Rory Baldwin; Jungreis, Irwin; Loveland, Jane; Mudge, Jonathan M; Sisu, Cristina; Wright, James; Armstrong, Joel; Barnes, If; Berry, Andrew; Bignell, Alexandra; Carbonell Sala, Silvia; Chrast, Jacqueline; Cunningham, Fiona; Di Domenico, Tomás; Donaldson, Sarah; Fiddes, Ian T; García Girón, Carlos; ... (2019). GENCODE reference annotation for the human and mouse genomes. Nucleic acids research, 47(D1), D766-D773. Oxford University Press 10.1093/nar/gky955
Popadin, Konstantin; Peischl, Stephan; Garieri, Marco; Sailani, M. Reza; Letourneau, Audrey; Santoni, Federico; Lukowski, Samuel W.; Bazykin, Georgii A.; Nikolaev, Sergey; Meyer, Diogo; Excoffier, Laurent; Reymond, Alexandre; Antonarakis, Stylianos E. (2018). Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection. Genome research, 28(1), pp. 1-10. Cold Spring Harbor, N.Y 10.1101/gr.228411.117
Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; Deutsch, Samuel; Guigo, Roderic; Denoeud, France; Drenkow, Jorg; Rossier, Colette; Ariani, Francesca; Capra, Valeria; Excoffier, Laurent; Renieri, Alessandra; Gingeras, Thomas R.; Antonarakis, Stylianos E. (2009). Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls. Human mutation, 30(9), E866 - E879. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21073
Drake, Jared; Bird, Christine; Nemesh, James; Thomas, Daryl; Newton-Cheh, Christopher; Reymond, Alexandre; Excoffier, Laurent; Attar, Homa; Antonarakis, Stylianos; Dermitzakis, Emmanouil; Hirschhorn, Joel (2006). Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nature genetics, 38(2), pp. 223-227. New York, N.Y.: Nature America 10.1038/ng1710
