Day IN - Search Results

1

Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

Erzurumluoglu AM, Alsaadi MM, Rodriguez S, Alotaibi TS, Guthrie PA, Lewis S, Ginwalla A, Gaunt TR, Alharbi KK, Alsaif FM, Alsaadi BM, Day IN. Erzurumluoglu AM, et al. Among authors: day in. PLoS One. 2015 Mar 23;10(3):e0121351. doi: 10.1371/journal.pone.0121351. eCollection 2015. PLoS One. 2015. PMID: 25799584 Free PMC article.

2

From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.

Alsaadi MM, Gaunt TR, Boustred CR, Guthrie PA, Liu X, Lenzi L, Rainbow L, Hall N, Alharbi KK, Day IN. Alsaadi MM, et al. Among authors: day in. Ann Hum Genet. 2012 May;76(3):211-20. doi: 10.1111/j.1469-1809.2012.00704.x. Epub 2012 Mar 2. Ann Hum Genet. 2012. PMID: 22384920 Free PMC article.

3

An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history.

Gaunt TR, Rodriguez S, Guthrie PA, Day IN. Gaunt TR, et al. Among authors: day in. Hum Mutat. 2010 Apr;31(4):414-20. doi: 10.1002/humu.21199. Hum Mutat. 2010. PMID: 20077501

4

Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database.

Raistrick CA, Day IN, Gaunt TR. Raistrick CA, et al. Among authors: day in. PLoS One. 2010 Oct 11;5(10):e13340. doi: 10.1371/journal.pone.0013340. PLoS One. 2010. PMID: 20948966 Free PMC article.

5

Predicting the functional consequences of cancer-associated amino acid substitutions.

Shihab HA, Gough J, Cooper DN, Day IN, Gaunt TR. Shihab HA, et al. Among authors: day in. Bioinformatics. 2013 Jun 15;29(12):1504-10. doi: 10.1093/bioinformatics/btt182. Epub 2013 Apr 25. Bioinformatics. 2013. PMID: 23620363 Free PMC article.

6

Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.

Alsaadi MM, Erzurumluoglu AM, Rodriguez S, Guthrie PA, Gaunt TR, Omar HZ, Mubarak M, Alharbi KK, Al-Rikabi AC, Day IN. Alsaadi MM, et al. Among authors: day in. Hum Mutat. 2014 Dec;35(12):1446-8. doi: 10.1002/humu.22698. Hum Mutat. 2014. PMID: 25224326 Free PMC article.

7

Influence of adiposity-related genetic markers in a population of saudi arabians where other variables influencing obesity may be reduced.

Alharbi KK, Richardson TG, Khan IA, Syed R, Mohammed AK, Boustred CR, Gaunt TR, Tamimi W, Al-Daghri NM, Day IN. Alharbi KK, et al. Among authors: day in. Dis Markers. 2014;2014:758232. doi: 10.1155/2014/758232. Epub 2014 Nov 17. Dis Markers. 2014. PMID: 25484485 Free PMC article.

8

Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.

Erzurumluoglu AM, Rodriguez S, Shihab HA, Baird D, Richardson TG, Day IN, Gaunt TR. Erzurumluoglu AM, et al. Among authors: day in. Biomed Res Int. 2015;2015:923491. doi: 10.1155/2015/923491. Epub 2015 Apr 6. Biomed Res Int. 2015. PMID: 26106619 Free PMC article. Review.

9

Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions.

Erzurumluoglu AM, Shihab HA, Rodriguez S, Gaunt TR, Day IN. Erzurumluoglu AM, et al. Among authors: day in. Ann Hum Genet. 2016 May;80(3):187-96. doi: 10.1111/ahg.12150. Epub 2016 Mar 22. Ann Hum Genet. 2016. PMID: 27000383 Free PMC article. Review.

10

Frequency of KLK3 gene deletions in the general population.

Rodriguez S, Al-Ghamdi OA, Guthrie PA, Shihab HA, McArdle W, Gaunt T, Alharbi KK, Day IN. Rodriguez S, et al. Among authors: day in. Ann Clin Biochem. 2017 Jul;54(4):472-480. doi: 10.1177/0004563216666999. Epub 2016 Aug 23. Ann Clin Biochem. 2017. PMID: 27555663 Free PMC article.

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