Publications by authors named "Ian N Day"

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Frequency of KLK3 gene deletions in the general population.
Santiago Rodriguez, Osama A Al-Ghamdi, Philip Ai Guthrie, Hashem A Shihab, Wendy McArdle, Ian Nm Day

Ann Clin Biochem· July 2017

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HAPRAP: a haplotype-based iterative method for statistical fine mapping using GWAS summary statistics.
Jie Zheng, Santiago Rodriguez, Charles Laurin, Denis Baird, Lea Trela-Larsen, Ian N M Day

Bioinformatics· January 2017

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Possible Association of APOE Genotype with Working Memory in Young Adults.
Lindsey I Sinclair, Katherine S Button, Marcus R Munafò, Ian N M Day, Glyn Lewis

PLoS One· May 2016

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Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions.
A Mesut Erzurumluoglu, Hashem A Shihab, Santiago Rodriguez, Tom R Gaunt, Ian N M Day

Ann Hum Genet· May 2016

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Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis.
Jon White, Reecha Sofat, Gibran Hemani, Tina Shah, Jorgen Engmann, Ian N Day

Lancet Diabetes Endocrinol· April 2016

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A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.
Teri-Louise North, Yoav Ben-Shlomo, Cyrus Cooper, Ian J Deary, John Gallacher, Ian N M Day

J Med Genet· April 2016

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Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.
A Mesut Erzurumluoglu, Santiago Rodriguez, Hashem A Shihab, Denis Baird, Tom G Richardson, Ian N M Day

Biomed Res Int· March 2016

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Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
A Mesut Erzurumluoglu, Muslim M Alsaadi, Santiago Rodriguez, Tahani S Alotaibi, Philip A I Guthrie, Ian N M Day

PLoS One· February 2016

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Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.
Santiago Rodriguez, Tom R Gaunt, Yiran Guo, Jie Zheng, Michael R Barnes, Ian N M Day

Eur J Hum Genet· January 2016

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Effect of smoking on physical and cognitive capability in later life: a multicohort study using observational and genetic approaches.
Teri-Louise North, Tom M Palmer, Sarah J Lewis, Rachel Cooper, Chris Power, Ian N M Day

BMJ Open· December 2015

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Influence of adiposity-related genetic markers in a population of saudi arabians where other variables influencing obesity may be reduced.
Khalid K Alharbi, Tom G Richardson, Imran Ali Khan, Rabbani Syed, Abdul Khader Mohammed, Ian N M Day

Dis Markers· July 2015

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Haptoglobin duplicon, hemoglobin, and vitamin C: analyses in the british women's heart and health study and Caerphilly prospective study.
Philip A I Guthrie, Mohammad R Abdollahi, Tom Gaunt, Debbie A Lawlor, Yoav Ben-Shlomo, Ian N M Day

Dis Markers· July 2015

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An integrative approach to predicting the functional effects of non-coding and coding sequence variation.
Hashem A Shihab, Mark F Rogers, Julian Gough, Matthew Mort, David N Cooper, Ian N M Day

Bioinformatics· May 2015

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Associations between APOE and low-density lipoprotein cholesterol genotypes and cognitive and physical capability: the HALCyon programme.
Tamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, Rebecca Hardy, Cyrus Cooper, Ian N M Day

Age (Dordr)· March 2015

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Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.
Muslim M Alsaadi, A Mesut Erzurumluoglu, Santiago Rodriguez, Philip A I Guthrie, Tom R Gaunt, Ian N M Day

Hum Mutat· December 2014

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Canonical correlation analysis for gene-based pleiotropy discovery.
Jose A Seoane, Colin Campbell, Ian N M Day, Juan P Casas, Tom R Gaunt

PLoS Comput Biol· October 2014

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FH4=STAP1. Another gene for familial hypercholesterolemia? Relevance to cascade testing and drug development?
Ian N M Day

Circ Res· August 2014

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Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.
Hashem A Shihab, Julian Gough, Matthew Mort, David N Cooper, Ian N M Day

Hum Genomics· June 2014

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Population genomics of cardiometabolic traits: design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) Consortium.
Tina Shah, Jorgen Engmann, Caroline Dale, Sonia Shah, Jon White, Ian N Day

PLoS One· April 2014

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Associations between a polymorphism in the pleiotropic GCKR and Age-related phenotypes: the HALCyon programme.
Tamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, Rebecca Hardy, Ian J Deary, Ian N M Day

PLoS One· March 2014

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A pathway-based data integration framework for prediction of disease progression.
José A Seoane, Ian N M Day, Tom R Gaunt, Colin Campbell

Bioinformatics· March 2014

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Structural and population-based evaluations of TBC1D1 p.Arg125Trp.
Tom G Richardson, Elaine C Thomas, Richard B Sessions, Debbie A Lawlor, Jeremy M Tavaré, Ian N M Day

PLoS One· December 2013

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Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip.
Tom R Gaunt, Delilah Zabaneh, Sonia Shah, Anna Guyatt, Christophe Ladroue, Ian N Day

Thromb Haemost· November 2013

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Predicting the functional consequences of cancer-associated amino acid substitutions.
Hashem A Shihab, Julian Gough, David N Cooper, Ian N M Day, Tom R Gaunt

Bioinformatics· June 2013

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Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers.
Tina Shah, Delilah Zabaneh, Tom Gaunt, Daniel I Swerdlow, Sonia Shah, Ian N Day

Circ Cardiovasc Genet· April 2013

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