Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol

por Guthrie, Philip A.I., Rodriguez, Santiago, Gaunt, Tom R., Lawlor, Debbie A., Smith, George Davey, Day, Ian N.M.
Publicado em 2012

Amplification ratio control system for copy number variation genotyping

por Guthrie, Philip A. I., Gaunt, Tom R., Abdollahi, Mohammed R., Rodriguez, Santiago, Lawlor, Debbie A., Smith, George Davey, Day, Ian N. M.
Publicado em 2011

IQ, Educational Attainment, Memory and Plasma Lipids: Associations with Apolipoprotein E Genotype in 5995 Children

por Taylor, Amy E., Guthrie, Philip A.I., Smith, George Davey, Golding, Jean, Sattar, Naveed, Hingorani, Aroon D., Deanfield, John E., Day, Ian N.M.
Publicado em 2011

Frequency of KLK3 gene deletions in the general population

por Rodriguez, Santiago, Al-Ghamdi, Osama A., Guthrie, Philip A. I., Shihab, Hashem A., McArdle, Wendy, Gaunt, Tom, Alharbi, Khalid K., Day, Ian N. M.
Publicado no Ann Clin Biochem (2016)

Haptoglobin Duplicon, Hemoglobin, and Vitamin C: Analyses in the British Women's Heart and Health Study and Caerphilly Prospective Study

por Guthrie, Philip A. I., Abdollahi, Mohammad R., Gaunt, Tom, Lawlor, Debbie A., Ben-Shlomo, Yoav, Gallacher, John, Davey Smith, George, Day, Ian N. M., Rodriguez, Santiago
Publicado no Dis Markers (2014)

Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women

por Guyatt, Anna L., Burrows, Kimberley, Guthrie, Philip A.I., Ring, Sue, McArdle, Wendy, Day, Ian N.M., Ascione, Raimondo, Lawlor, Debbie A., Gaunt, Tom R., Rodriguez, Santiago
Publicado no Mitochondrion (2018)

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

por Alsaadi, Muslim M, Erzurumluoglu, A Mesut, Rodriguez, Santiago, Guthrie, Philip A I, Gaunt, Tom R, Omar, Hager Z, Mubarak, Mohammad, Alharbi, Khalid K, Al-Rikabi, Ammar C, Day, Ian N M
Publicado no Hum Mutat (2014)

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

por Erzurumluoglu, A. Mesut, Alsaadi, Muslim M., Rodriguez, Santiago, Alotaibi, Tahani S., Guthrie, Philip A. I., Lewis, Sian, Ginwalla, Aasiya, Gaunt, Tom R., Alharbi, Khalid K., Alsaif, Fahad M., Alsaadi, Basma M., Day, Ian N. M.
Publicado no PLoS One (2015)

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

por Guyatt, Anna L., Brennan, Rebecca R., Burrows, Kimberley, Guthrie, Philip A. I., Ascione, Raimondo, Ring, Susan M., Gaunt, Tom R., Pyle, Angela, Cordell, Heather J., Lawlor, Debbie A., Chinnery, Patrick F., Hudson, Gavin, Rodriguez, Santiago
Publicado no Hum Genomics (2019)