Alharbi KK - 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: alharbi kk. 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

Combination of His-tagged T4 endonuclease VII with microplate array diagonal gel electrophoresis for high-throughput mutation scanning.

Smith MJ, Pante-de-Sousa G, Alharbi KK, Chen XH, Day IN, Fox KR. Smith MJ, et al. Among authors: alharbi kk. Clin Chem. 2005 Jun;51(6):1043-6. doi: 10.1373/clinchem.2004.046755. Clin Chem. 2005. PMID: 15914792 No abstract available.

3

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.

Alharbi KK, Aldahmesh MA, Spanakis E, Haddad L, Whittall RA, Chen XH, Rassoulian H, Smith MJ, Sillibourne J, Ball NJ, Graham NJ, Briggs PJ, Simpson IA, Phillips DI, Lawlor DA, Ye S, Humphries SE, Cooper C, Smith GD, Ebrahim S, Eccles DM, Day IN. Alharbi KK, et al. Genome Res. 2005 Jul;15(7):967-77. doi: 10.1101/gr.3313405. Genome Res. 2005. PMID: 15998910 Free PMC article.

4

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.

Alharbi KK, Spanakis E, Tan K, Smith MJ, Aldahmesh MA, O'Dell SD, Sayer AA, Lawlor DA, Ebrahim S, Davey Smith G, O'Rahilly S, Farooqi S, Cooper C, Phillips DI, Day IN. Alharbi KK, et al. Hum Mutat. 2007 Mar;28(3):294-302. doi: 10.1002/humu.20404. Hum Mutat. 2007. PMID: 17072869

5

MeltMADGE for mutation scanning of specific genes in population studies.

Alharbi KK, Aldahmesh MA, Gaunt TR, Rassoulian H, Ai Guthrie P, Rodriguez S, Boustred CR, Spanakis E, Day IN. Alharbi KK, et al. Nat Protoc. 2010 Nov;5(11):1800-12. doi: 10.1038/nprot.2010.136. Epub 2010 Oct 21. Nat Protoc. 2010. PMID: 21030955 Free PMC article.

6

Population mutation scanning of human GHR by meltMADGE and identification of a paucimorphic variant.

Alharbi KK, Hou G, Chen XH, Gaunt TR, Syddall HE, Sayer AA, Dennison EM, Phillips DI, Cooper C, Day IN. Alharbi KK, et al. Genet Test Mol Biomarkers. 2011 Dec;15(12):855-60. doi: 10.1089/gtmb.2011.0070. Epub 2011 Jun 20. Genet Test Mol Biomarkers. 2011. PMID: 21689014

7

Analysis of potential genomic confounding in genetic association studies and an online genomic confounding browser (GCB).

Raistrick CA, Alharbi KK, Day IN, Gaunt TR. Raistrick CA, et al. Among authors: alharbi kk. Ann Hum Genet. 2011 Nov;75(6):723-31. doi: 10.1111/j.1469-1809.2011.00677.x. Ann Hum Genet. 2011. PMID: 21972962

8

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: alharbi kk. 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.

9

Very low PSA concentrations and deletions of the KLK3 gene.

Rodriguez S, Al-Ghamdi OA, Burrows K, Guthrie PA, Lane JA, Davis M, Marsden G, Alharbi KK, Cox A, Hamdy FC, Neal DE, Donovan JL, Day IN. Rodriguez S, et al. Among authors: alharbi kk. Clin Chem. 2013 Jan;59(1):234-44. doi: 10.1373/clinchem.2012.192815. Epub 2012 Nov 20. Clin Chem. 2013. PMID: 23169475

10

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: alharbi kk. Hum Mutat. 2014 Dec;35(12):1446-8. doi: 10.1002/humu.22698. Hum Mutat. 2014. PMID: 25224326 Free PMC article.

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