Genetics and genomics

Systematic review of genome-wide expression studies in multiple sclerosis
A K Kemppinen, J Kaprio, A Palotie, J Saarela

BMJ Open Jan 2011, 1 (1) e000053; DOI: 10.1136/bmjopen-2011-000053
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
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
Personalised medicine in Canada: a survey of adoption and practice in oncology, cardiology and family medicine
Katherine Bonter, Clarissa Desjardins, Nathan Currier, Jason Pun, Fredrick D Ashbury

BMJ Open Jan 2011, 1 (1) e000110; DOI: 10.1136/bmjopen-2011-000110
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
Discovery of URAT1 SNPs and association between serum uric acid levels and URAT1
Sung Kweon Cho, Soriul Kim, Jae-Yong Chung, Sun Ha Jee

BMJ Open Nov 2015, 5 (11) e009360; DOI: 10.1136/bmjopen-2015-009360
Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian–Chinese with thyroid dyshormonogenesis
Ching Chin Lee, Fatimah Harun, Muhammad Yazid Jalaludin, Choon Han Heh, Rozana Othman, Sarni Mat Junit

BMJ Open Jan 2015, 5 (1) e006121; DOI: 10.1136/bmjopen-2014-006121
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
Venous thromboembolism in adults screened for sickle cell trait: a population-based cohort study with nested case–control analysis
Iain Little, Yana Vinogradova, Elizabeth Orton, Joe Kai, Nadeem Qureshi

BMJ Open Mar 2017, 7 (3) e012665; DOI: 10.1136/bmjopen-2016-012665
Protocol of the adaptive study of IL-2 dose frequency on regulatory T cells in type 1 diabetes (DILfrequency): a mechanistic, non-randomised, repeat dose, open-label, response-adaptive study
Lucy A Truman, Marcin L Pekalski, Paula Kareclas, Marina Evangelou, Neil M Walker, James Howlett, Adrian P Mander, Jane Kennet, Linda S Wicker, Simon Bond, John A Todd, Frank Waldron-Lynch

BMJ Open Dec 2015, 5 (12) e009799; DOI: 10.1136/bmjopen-2015-009799

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