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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
Steward CA, Roovers J, Suner MM, Gonzalez JM, Uszczynska-Ratajczak B, Pervouchine D, Fitzgerald S, Viola M, Stamberger H, Hamdan FF, Ceulemans B, Leroy P, Nava C, Lepine A, Tapanari E, Keiller D, Abbs S, Sanchis-Juan A, Grozeva D, Rogers AS, Diekhans M, Guigó R, Petryszak R, Minassian BA, Cavalleri G, Vitsios D, Petrovski S, Harrow J, Flicek P, Lucy Raymond F, Lench NJ, Jonghe P, Mudge JM, Weckhuysen S, Sisodiya SM, Frankish A. Steward CA, et al. Among authors: harrow j. NPJ Genom Med. 2019 Dec 2;4:31. doi: 10.1038/s41525-019-0106-7. eCollection 2019. NPJ Genom Med. 2019. PMID: 31814998 Free PMC article.
Functional transcriptomics in the post-ENCODE era.
Mudge JM, Frankish A, Harrow J. Mudge JM, et al. Among authors: harrow j. Genome Res. 2013 Dec;23(12):1961-73. doi: 10.1101/gr.161315.113. Epub 2013 Oct 30. Genome Res. 2013. PMID: 24172201 Free PMC article.
The state of play in higher eukaryote gene annotation.
Mudge JM, Harrow J. Mudge JM, et al. Among authors: harrow j. Nat Rev Genet. 2016 Dec;17(12):758-772. doi: 10.1038/nrg.2016.119. Epub 2016 Oct 24. Nat Rev Genet. 2016. PMID: 27773922 Free PMC article. Review.
GENCODE pseudogenes.
Frankish A, Harrow J. Frankish A, et al. Among authors: harrow j. Methods Mol Biol. 2014;1167:129-55. doi: 10.1007/978-1-4939-0835-6_10. Methods Mol Biol. 2014. PMID: 24823776
The Vertebrate Genome Annotation browser 10 years on.
Harrow JL, Steward CA, Frankish A, Gilbert JG, Gonzalez JM, Loveland JE, Mudge J, Sheppard D, Thomas M, Trevanion S, Wilming LG. Harrow JL, et al. Nucleic Acids Res. 2014 Jan;42(Database issue):D771-9. doi: 10.1093/nar/gkt1241. Epub 2013 Dec 6. Nucleic Acids Res. 2014. PMID: 24316575 Free PMC article.
148 results