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Items: 6

1.

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.

Berry V, Ionides ACW, Pontikos N, Moghul I, Moore AT, Cheetham ME, Michaelides M.

Eye (Lond). 2018 May 1;32:1661-1668. doi: 10.1038/s41433-018-0154-8.

PMID:
29934635
2.

Discovery of novel representatives of bilaterian neuropeptide families and reconstruction of neuropeptide precursor evolution in ophiuroid echinoderms.

Zandawala M, Moghul I, Yañez Guerra LA, Delroisse J, Abylkassimova N, Hugall AF, O'Hara TD, Elphick MR.

Open Biol. 2017 Sep;7(9). pii: 170129. doi: 10.1098/rsob.170129.

3.

Pheno4J: a gene to phenotype graph database.

Mughal S, Moghul I, Yu J; UKIRDC, Clark T, Gregory DS, Pontikos N.

Bioinformatics. 2017 Oct 15;33(20):3317-3319. doi: 10.1093/bioinformatics/btx397.

PMID:
28633344
4.

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ; UKIRDC, Plagnol V.

Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147.

PMID:
28334266
5.

Transcriptomic identification of starfish neuropeptide precursors yields new insights into neuropeptide evolution.

Semmens DC, Mirabeau O, Moghul I, Pancholi MR, Wurm Y, Elphick MR.

Open Biol. 2016 Feb;6(2):150224. doi: 10.1098/rsob.150224.

6.

GeneValidator: identify problems with protein-coding gene predictions.

Drăgan MA, Moghul I, Priyam A, Bustos C, Wurm Y.

Bioinformatics. 2016 May 15;32(10):1559-61. doi: 10.1093/bioinformatics/btw015. Epub 2016 Jan 18.

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