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16 results
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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: guthrie pa. Hum Mutat. 2010 Apr;31(4):414-20. doi: 10.1002/humu.21199. Hum Mutat. 2010. PMID: 20077501
Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol.
Guthrie PA, Rodriguez S, Gaunt TR, Lawlor DA, Smith GD, Day IN. Guthrie PA, et al. Gene. 2012 May 10;499(1):8-13. doi: 10.1016/j.gene.2012.03.034. Epub 2012 Mar 11. Gene. 2012. PMID: 22433445 Free PMC article.
Amplification ratio control system for copy number variation genotyping.
Guthrie PA, Gaunt TR, Abdollahi MR, Rodriguez S, Lawlor DA, Smith GD, Day IN. Guthrie PA, et al. Nucleic Acids Res. 2011 Apr;39(8):e54. doi: 10.1093/nar/gkr046. Epub 2011 Feb 7. Nucleic Acids Res. 2011. PMID: 21300641 Free PMC article.
IQ, educational attainment, memory and plasma lipids: associations with apolipoprotein E genotype in 5995 children.
Taylor AE, Guthrie PA, Smith GD, Golding J, Sattar N, Hingorani AD, Deanfield JE, Day IN. Taylor AE, et al. Among authors: guthrie pa. Biol Psychiatry. 2011 Jul 15;70(2):152-8. doi: 10.1016/j.biopsych.2010.10.033. Epub 2011 Jan 7. Biol Psychiatry. 2011. PMID: 21215387 Free PMC article.
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.
Guyatt AL, Brennan RR, Burrows K, Guthrie PAI, Ascione R, Ring SM, Gaunt TR, Pyle A, Cordell HJ, Lawlor DA, Chinnery PF, Hudson G, Rodriguez S. Guyatt AL, et al. Among authors: guthrie pai. Hum Genomics. 2019 Jan 31;13(1):6. doi: 10.1186/s40246-018-0190-2. Hum Genomics. 2019. PMID: 30704525 Free PMC article.
Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women.
Guyatt AL, Burrows K, Guthrie PAI, Ring S, McArdle W, Day INM, Ascione R, Lawlor DA, Gaunt TR, Rodriguez S. Guyatt AL, et al. Among authors: guthrie pai. Mitochondrion. 2018 Mar;39:9-19. doi: 10.1016/j.mito.2017.08.007. Epub 2017 Aug 15. Mitochondrion. 2018. PMID: 28818596 Free PMC article.
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: guthrie pa. Hum Mutat. 2014 Dec;35(12):1446-8. doi: 10.1002/humu.22698. Hum Mutat. 2014. PMID: 25224326 Free PMC article.
Molecular and population analysis of natural selection on the human haptoglobin duplication.
Rodriguez S, Williams DM, Guthrie PA, McArdle WL, Smith GD, Evans DM, Gaunt TR, Day IN. Rodriguez S, et al. Among authors: guthrie pa. Ann Hum Genet. 2012 Sep;76(5):352-62. doi: 10.1111/j.1469-1809.2012.00716.x. Epub 2012 May 21. Ann Hum Genet. 2012. PMID: 22607059 Free PMC article.
Haptoglobin duplicon, hemoglobin, and vitamin C: analyses in the british women's heart and health study and Caerphilly prospective study.
Guthrie PA, Abdollahi MR, Gaunt T, Lawlor DA, Ben-Shlomo Y, Gallacher J, Davey Smith G, Day IN, Rodriguez S. Guthrie PA, et al. Dis Markers. 2014;2014:529456. doi: 10.1155/2014/529456. Epub 2014 Nov 30. Dis Markers. 2014. PMID: 25525287 Free PMC article.
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: guthrie pa. Clin Chem. 2013 Jan;59(1):234-44. doi: 10.1373/clinchem.2012.192815. Epub 2012 Nov 20. Clin Chem. 2013. PMID: 23169475
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