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Showing 1 to 9 of 9 entries
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The ECOUTER methodology for stakeholder engagement in translational research.

BMC medical ethics

Murtagh MJ, Minion JT, Turner A, Wilson RC, Blell M, Ochieng C, Murtagh B, Roberts S, Butters OW, Burton PR.
PMID: 28376776
BMC Med Ethics. 2017 Apr 04;18(1):24. doi: 10.1186/s12910-017-0167-z.

BACKGROUND: Because no single person or group holds knowledge about all aspects of research, mechanisms are needed to support knowledge exchange and engagement. Expertise in the research setting necessarily includes scientific and methodological expertise, but also expertise gained through...

The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer.

The Journal of clinical endocrinology and metabolism

Sahasrabudhe R, Stultz J, Williamson J, Lott P, Estrada A, Bohorquez M, Palles C, Polanco-Echeverry G, Jaeger E, Martin L, Magdalena Echeverry M, Tomlinson I, Carvajal-Carmona LG.
PMID: 26691890
J Clin Endocrinol Metab. 2016 Mar 01;10(3):1098-1103. doi: 10.1210/jc.2015-3928. Epub 2015 Dec 21.

CONTEXT: A recent study reported the non-synonymous G534E (rs7080536, allele A) variant in the HABP2 gene as causal in familial non-medullary thyroid cancer (NMTC).OBJECTIVE: The objective of this study was to evaluate the causality of HABP2 G534E in the...

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Hypertension (Dallas, Tex. : 1979)

Wain LV, Vaez A, Jansen R, Joehanes R, van der Most PJ, Erzurumluoglu AM, O'Reilly PF, Cabrera CP, Warren HR, Rose LM, Verwoert GC, Hottenga JJ, Strawbridge RJ, Esko T, Arking DE, Hwang SJ, Guo X, Kutalik Z, Trompet S, Shrine N, Teumer A, Ried JS, Bis JC, Smith AV, Amin N, Nolte IM, Lyytikäinen LP, Mahajan A, Wareham NJ, Hofer E, Joshi PK, Kristiansson K, Traglia M, Havulinna AS, Goel A, Nalls MA, Sõber S, Vuckovic D, Luan J, Del Greco M F, Ayers KL, Marrugat J, Ruggiero D, Lopez LM, Niiranen T, Enroth S, Jackson AU, Nelson CP, Huffman JE, Zhang W, Marten J, Gandin I, Harris SE, Zemunik T, Lu Y, Evangelou E, Shah N, de Borst MH, Mangino M, Prins BP, Campbell A, Li-Gao R, Chauhan G, Oldmeadow C, Abecasis G, Abedi M, Barbieri CM, Barnes MR, Batini C, Beilby J, Blake T, Boehnke M, Bottinger EP, Braund PS, Brown M, Brumat M, Campbell H, Chambers JC, Cocca M, Collins F, Connell J, Cordell HJ, Damman JJ, Davies G, de Geus EJ, de Mutsert R, Deelen J, Demirkale Y, Doney ASF, Dörr M, Farrall M, Ferreira T, Frånberg M, Gao H, Giedraitis V, Gieger C, Giulianini F, Gow AJ, Hamsten A, Harris TB, Hofman A, Holliday EG, Hui J, Jarvelin MR, Johansson Å, Johnson AD, Jousilahti P, Jula A, Kähönen M, Kathiresan S, Khaw KT, Kolcic I, Koskinen S, Langenberg C, Larson M, Launer LJ, Lehne B, Liewald DCM, Lin L, Lind L, Mach F, Mamasoula C, Menni C, Mifsud B, Milaneschi Y, Morgan A, Morris AD, Morrison AC, Munson PJ, Nandakumar P, Nguyen QT, Nutile T, Oldehinkel AJ, Oostra BA, Org E, Padmanabhan S, Palotie A, Paré G, Pattie A, Penninx BWJH, Poulter N, Pramstaller PP, Raitakari OT, Ren M, Rice K, Ridker PM, Riese H, Ripatti S, Robino A, Rotter JI, Rudan I, Saba Y, Saint Pierre A, Sala CF, Sarin AP, Schmidt R, Scott R, Seelen MA, Shields DC, Siscovick D, Sorice R, Stanton A, Stott DJ, Sundström J, Swertz M, Taylor KD, Thom S, Tzoulaki I, Tzourio C, Uitterlinden AG, Völker U, Vollenweider P, Wild S, Willemsen G, Wright AF, Yao J, Thériault S, Conen D, Attia J, Sever P, Debette S, Mook-Kanamori DO, Zeggini E, Spector TD, van der Harst P, Palmer CNA, Vergnaud AC, Loos RJF, Polasek O, Starr JM, Girotto G, Hayward C, Kooner JS, Lindgren CM, Vitart V, Samani NJ, Tuomilehto J, Gyllensten U, Knekt P, Deary IJ, Ciullo M, Elosua R, Keavney BD, Hicks AA, Scott RA, Gasparini P, Laan M, Liu Y, Watkins H, Hartman CA, Salomaa V, Toniolo D, Perola M, Wilson JF, Schmidt H, Zhao JH, Lehtimäki T, van Duijn CM, Gudnason V, Psaty BM, Peters A, Rettig R, James A, Jukema JW, Strachan DP, Palmas W, Metspalu A, Ingelsson E, Boomsma DI, Franco OH, Bochud M, Newton-Cheh C, Munroe PB, Elliott P, Chasman DI, Chakravarti A, Knight J, Morris AP, Levy D, Tobin MD, Snieder H, Caulfield MJ, Ehret GB.
PMID: 28739976
Hypertension. 2017 Jul 24; doi: 10.1161/HYPERTENSIONAHA.117.09438. Epub 2017 Jul 24.

Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel...

The ICR1000 UK exome series: a resource of gene variation in an outbred population.

F1000Research

Ruark E, Münz M, Renwick A, Clarke M, Ramsay E, Hanks S, Mahamdallie S, Elliott A, Seal S, Strydom A, Gerton L, Rahman N.
PMID: 26834991
F1000Res. 2015 Sep 22;4:883. doi: 10.12688/f1000research.7049.1. eCollection 2015.

To enhance knowledge of gene variation in outbred populations, and to provide a dataset with utility in research and clinical genomics, we performed exome sequencing of 1,000 UK individuals from the general population and applied a high-quality analysis pipeline...

Return of individual research results from genomic research: A systematic review of stakeholder perspectives.

PloS one

Vears DF, Minion JT, Roberts SJ, Cummings J, Machirori M, Blell M, Budin-Ljøsne I, Cowley L, Dyke SOM, Gaff C, Green R, Hall A, Johns AL, Knoppers BM, Mulrine S, Patch C, Winkler E, Murtagh MJ.
PMID: 34748551
PLoS One. 2021 Nov 08;16(11):e0258646. doi: 10.1371/journal.pone.0258646. eCollection 2021.

Despite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to systematically review the empirical literature exploring stakeholders' perspectives on return...

Using Y-Chromosomal Haplogroups in Genetic Association Studies and Suggested Implications.

Genes

Erzurumluoglu AM, Baird D, Richardson TG, Timpson NJ, Rodriguez S.
PMID: 29361760
Genes (Basel). 2018 Jan 22;9(1). doi: 10.3390/genes9010045.

Y-chromosomal (Y-DNA) haplogroups are more widely used in population genetics than in genetic epidemiology, although associations between Y-DNA haplogroups and several traits, including cardiometabolic traits, have been reported. In apparently homogeneous populations defined by principal component analyses, there is...

Haplotype-based association analysis of general cognitive ability in Generation Scotland, the English Longitudinal Study of Ageing, and UK Biobank.

Wellcome open research

Howard DM, Adams MJ, Clarke TK, Wigmore EM, Zeng Y, Hagenaars SP, Lyall DM, Thomson PA, Evans KL, Porteous DJ, Nagy R, Hayward C, Haley CS, Smith BH, Murray AD, Batty GD, Deary IJ, McIntosh AM.
PMID: 28989979
Wellcome Open Res. 2017 Aug 10;2:61. doi: 10.12688/wellcomeopenres.12171.1. eCollection 2017.

BACKGROUND: Cognitive ability is a heritable trait with a polygenic architecture, for which several associated variants have been identified using genotype-based and candidate gene approaches. Haplotype-based analyses are a complementary technique that take phased genotype data into account, and...

Views on genomic research result delivery methods and informed consent: a review.

Personalized medicine

Vears DF, Minion JT, Roberts SJ, Cummings J, Machirori M, Murtagh MJ.
PMID: 33822658
Per Med. 2021 May;18(3):295-310. doi: 10.2217/pme-2020-0139. Epub 2021 Apr 06.

There has been little discussion of the way genomic research results should be returned and how to obtain informed consent for this. We systematically searched the empirical literature, identifying 63 articles exploring stakeholder perspectives on processes for obtaining informed...

Consensus Statement on Public Involvement and Engagement with Data Intensive Health Research.

International journal of population data science

Aitken M, Tully MP, Porteous C, Denegri S, Cunningham-Burley S, Banner N, Black C, Burgess M, Cross L, van Delden JJ, Ford E, Fox S, Fitzpatrick NK, Gallacher K, Goddard C, Hassan L, Jamieson R, Jones KH, Kaarakainen M, Lugg-Widger F, McGrail K, McKenzie A, Moran R, Murtagh MJ, Oswald M, Paprica A, Perrin N, Richards EV, Rouse J, Webb J, Willison DJ.
PMID: 34095528
Int J Popul Data Sci. 2019 Feb 12;4(1):586. doi: 10.23889/ijpds.v4i1.586.

No abstract available.

Showing 1 to 9 of 9 entries