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Items: 10

1.

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.

NPJ Genom Med. 2019 Dec 2;4:31. doi: 10.1038/s41525-019-0106-7. eCollection 2019.

2.

Mitochondrial stress-dependent regulation of cellular protein synthesis.

Topf U, Uszczynska-Ratajczak B, Chacinska A.

J Cell Sci. 2019 Apr 26;132(8). pii: jcs226258. doi: 10.1242/jcs.226258. Review.

3.

Correction: Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish.

Sokol AM, Uszczynska-Ratajczak B, Collins MM, Bazala M, Topf U, Lundegaard PR, Sugunan S, Guenther S, Kuenne C, Graumann J, Chan SSL, Stainier DYR, Chacinska A.

PLoS Genet. 2019 Jan 31;15(1):e1007972. doi: 10.1371/journal.pgen.1007972. eCollection 2019 Jan.

4.

Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish.

Sokol AM, Uszczynska-Ratajczak B, Collins MM, Bazala M, Topf U, Lundegaard PR, Sugunan S, Guenther S, Kuenne C, Graumann J, Chan SSL, Stainier DYR, Chacinska A.

PLoS Genet. 2018 Nov 20;14(11):e1007743. doi: 10.1371/journal.pgen.1007743. eCollection 2018 Nov. Erratum in: PLoS Genet. 2019 Jan 31;15(1):e1007972.

5.

GENCODE reference annotation for the human and mouse genomes.

Frankish A, Diekhans M, Ferreira AM, Johnson R, Jungreis I, Loveland J, Mudge JM, Sisu C, Wright J, Armstrong J, Barnes I, Berry A, Bignell A, Carbonell Sala S, Chrast J, Cunningham F, Di Domenico T, Donaldson S, Fiddes IT, García Girón C, Gonzalez JM, Grego T, Hardy M, Hourlier T, Hunt T, Izuogu OG, Lagarde J, Martin FJ, Martínez L, Mohanan S, Muir P, Navarro FCP, Parker A, Pei B, Pozo F, Ruffier M, Schmitt BM, Stapleton E, Suner MM, Sycheva I, Uszczynska-Ratajczak B, Xu J, Yates A, Zerbino D, Zhang Y, Aken B, Choudhary JS, Gerstein M, Guigó R, Hubbard TJP, Kellis M, Paten B, Reymond A, Tress ML, Flicek P.

Nucleic Acids Res. 2019 Jan 8;47(D1):D766-D773. doi: 10.1093/nar/gky955.

6.

Towards a complete map of the human long non-coding RNA transcriptome.

Uszczynska-Ratajczak B, Lagarde J, Frankish A, Guigó R, Johnson R.

Nat Rev Genet. 2018 Sep;19(9):535-548. doi: 10.1038/s41576-018-0017-y. Review.

7.

Gene expression profiling of acute myeloid leukemia samples from adult patients with AML-M1 and -M2 through boutique microarrays, real-time PCR and droplet digital PCR.

Handschuh L, Kaźmierczak M, Milewski MC, Góralski M, Łuczak M, Wojtaszewska M, Uszczyńska-Ratajczak B, Lewandowski K, Komarnicki M, Figlerowicz M.

Int J Oncol. 2018 Mar;52(3):656-678. doi: 10.3892/ijo.2017.4233. Epub 2017 Dec 28.

8.

High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing.

Lagarde J, Uszczynska-Ratajczak B, Carbonell S, Pérez-Lluch S, Abad A, Davis C, Gingeras TR, Frankish A, Harrow J, Guigo R, Johnson R.

Nat Genet. 2017 Dec;49(12):1731-1740. doi: 10.1038/ng.3988. Epub 2017 Nov 6.

9.

Brain Transcriptome Sequencing of a Natural Model of Alzheimer's Disease.

Altimiras F, Uszczynska-Ratajczak B, Camara F, Vlasova A, Palumbo E, Newhouse S, Deacon RM, Farias LA, Hurley MJ, Loyola DE, Vásquez RA, Dobson R, Guigó R, Cogram P.

Front Aging Neurosci. 2017 Mar 20;9:64. doi: 10.3389/fnagi.2017.00064. eCollection 2017. No abstract available.

10.

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

Lagarde J, Uszczynska-Ratajczak B, Santoyo-Lopez J, Gonzalez JM, Tapanari E, Mudge JM, Steward CA, Wilming L, Tanzer A, Howald C, Chrast J, Vela-Boza A, Rueda A, Lopez-Domingo FJ, Dopazo J, Reymond A, Guigó R, Harrow J.

Nat Commun. 2016 Aug 17;7:12339. doi: 10.1038/ncomms12339.

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