Genetics and genomics

Development of an economic evaluation of diagnostic strategies: the case of monogenic diabetes
Jaime L Peters, Rob Anderson, Chris Hyde

BMJ Open Jan 2013, 3 (5) e002905; DOI: 10.1136/bmjopen-2013-002905
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism
Chunyun Fu, Bobo Xie, Shujie Zhang, Jin Wang, Shiyu Luo, Haiyang Zheng, Jiasun Su, Xuyun Hu, Rongyu Chen, Xin Fan, Jingsi Luo, Xuefan Gu, Shaoke Chen

BMJ Open May 2016, 6 (5) e010719; DOI: 10.1136/bmjopen-2015-010719
Public views on the donation and use of human biological samples in biomedical research: a mixed methods study
Celine Lewis, Margaret Clotworthy, Shona Hilton, Caroline Magee, Mark J Robertson, Lesley J Stubbins, Julie Corfield

BMJ Open Aug 2013, 3 (8) e003056; DOI: 10.1136/bmjopen-2013-003056
Seeking the source of Pseudomonas aeruginosa infections in a recently opened hospital: an observational study using whole-genome sequencing
Joshua Quick, Nicola Cumley, Christopher M Wearn, Marc Niebel, Chrystala Constantinidou, Chris M Thomas, Mark J Pallen, Naiem S Moiemen, Amy Bamford, Beryl Oppenheim, Nicholas J Loman

BMJ Open Nov 2014, 4 (11) e006278; DOI: 10.1136/bmjopen-2014-006278
Association of the vitamin D binding protein polymorphisms with the risk of type 2 diabetes mellitus: a meta-analysis
Gaoshuai Wang, Yuqian Li, Linlin Li, Fei Yu, Lingling Cui, Yue Ba, Wenjie Li, Chongjian Wang

BMJ Open Nov 2014, 4 (11) e005617; DOI: 10.1136/bmjopen-2014-005617
Consent for the use of human biological samples for biomedical research: a mixed methods study exploring the UK public's preferences
Celine Lewis, Margaret Clotworthy, Shona Hilton, Caroline Magee, Mark J Robertson, Lesley J Stubbins, Julie Corfield

BMJ Open Aug 2013, 3 (8) e003022; DOI: 10.1136/bmjopen-2013-003022
Non-invasive prenatal diagnosis using fetal DNA in maternal plasma: a preliminary study for identification of paternally-inherited alleles using single nucleotide polymorphisms
J J Chen, J A M A Tan, K H Chua, P C Tan, E George

BMJ Open Jul 2015, 5 (7) e007648; DOI: 10.1136/bmjopen-2015-007648
Are race-specific ERCC1 haplotypes in melanoma cases versus controls related to the predictive and prognostic value of ERCC1 N118N?
Rui Gao, Kelie M Reece, Tristan Sissung, Samuel H Fu, David J Venzon, Eddie Reed, Shawn D Spencer, Douglas K Price, William D Figg

BMJ Open Jan 2013, 3 (1) e002030; DOI: 10.1136/bmjopen-2012-002030
Survival transcriptome in the coenzyme Q₁₀ deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q₁₀ deficiencies
Daniel J M Fernández-Ayala, Ignacio Guerra, Sandra Jiménez-Gancedo, Maria V Cascajo, Angela Gavilán, Salvatore DiMauro, Michio Hirano, Paz Briones, Rafael Artuch, Rafael De Cabo, Leonardo Salviati, Plácido Navas

BMJ Open Jan 2013, 3 (3) e002524; DOI: 10.1136/bmjopen-2012-002524
Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population
M Martyn, V Anderson, A Archibald, R Carter, J Cohen, M Delatycki, S Donath, J Emery, J Halliday, M Hill, L Sheffield, H Slater, F Tassone, S Younie, S Metcalfe

BMJ Open Sep 2013, 3 (9) e003660; DOI: 10.1136/bmjopen-2013-003660

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