Genetics and genomics

Cohort profile: the Baependi Heart Study—a family-based, highly admixed cohort study in a rural Brazilian town
Kieren J Egan, Malcolm von Schantz, André B Negrão, Hadassa C Santos, Andréa R V R Horimoto, Nubia E Duarte, Guilherme C Gonçalves, Júlia M P Soler, Mariza de Andrade, Geraldo Lorenzi-Filho, Homero Vallada, Tâmara P Taporoski, Mario Pedrazzoli, Ana P Azambuja, Camila M de Oliveira, Rafael O Alvim, José E Krieger, Alexandre C Pereira

BMJ Open Oct 2016, 6 (10) e011598; DOI: 10.1136/bmjopen-2016-011598
Rationale, design and baseline results of the Guangxi manganese-exposed workers healthy cohort (GXMEWHC) study
Yingnan Lv, Yunfeng Zou, Jing Liu, Kangcheng Chen, Damin Huang, Yuefei Shen, Yaoqiu Zhong, Zhihao Liu, Bei Jiang, Qin Li, Li Qing, Wei Zhang, Lang Chen, Fenfen Wang, Bing Xia, Li Yang, Xiaobo Yang

BMJ Open Jul 2014, 4 (7) e005070; DOI: 10.1136/bmjopen-2014-005070
Annexin A11 (ANXA11) gene polymorphisms are associated with sarcoidosis in a Han Chinese population: a case–control study
Xianjun Feng, Shuzhi Zang, Yanrong Yang, Shasha Zhao, Yunxia Li, Xinyuan Gao, Ligong Zhang

BMJ Open Jul 2014, 4 (7) e004466; DOI: 10.1136/bmjopen-2013-004466
Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia
Kathlin K Ambrose, Taufik Ishak, Lay-Hoong Lian, Khean-Jin Goh, Kum-Thong Wong, Azlina Ahmad-Annuar, Meow-Keong Thong

BMJ Open Mar 2017, 7 (3) e010711; DOI: 10.1136/bmjopen-2015-010711
Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families
Liping Yang, Xiaobei Yin, Lemeng Wu, Ningning Chen, Huirong Zhang, Genlin Li, Zhizhong Ma

BMJ Open Nov 2013, 3 (11) e004030; DOI: 10.1136/bmjopen-2013-004030
The frequency of EGFR and KRAS mutations in non-small cell lung cancer (NSCLC): routine screening data for central Europe from a cohort study
Christian Boch, Jens Kollmeier, Andreas Roth, Susann Stephan-Falkenau, Daniel Misch, Wolfram Grüning, Torsten Thomas Bauer, Thomas Mairinger

BMJ Open Jan 2013, 3 (4) e002560; DOI: 10.1136/bmjopen-2013-002560
Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: a pan-Canadian cohort study
Mary Jane Esplen, Mario Cappelli, Jiahui Wong, Joan L Bottorff, Jon Hunter, June Carroll, Michel Dorval, Brenda Wilson, Judith Allanson, Kara Semotiuk, Melyssa Aronson, Louise Bordeleau, Nicole Charlemagne, Wendy Meschino

BMJ Open Jan 2013, 3 (3) e002227; DOI: 10.1136/bmjopen-2012-002227
Juvenile Huntington's disease: a population-based study using the General Practice Research Database
Ian Douglas, Stephen Evans, Michael D Rawlins, Liam Smeeth, Sarah J Tabrizi, Nancy S Wexler

BMJ Open Jan 2013, 3 (4) e002085; DOI: 10.1136/bmjopen-2012-002085
A pilot study of rapid benchtop sequencing of Staphylococcus aureus and Clostridium difficile for outbreak detection and surveillance
David W Eyre, Tanya Golubchik, N Claire Gordon, Rory Bowden, Paolo Piazza, Elizabeth M Batty, Camilla L C Ip, Daniel J Wilson, Xavier Didelot, Lily O'Connor, Rochelle Lay, David Buck, Angela M Kearns, Angela Shaw, John Paul, Mark H Wilcox, Peter J Donnelly, Tim E A Peto, A Sarah Walker, Derrick W Crook

BMJ Open Jan 2012, 2 (3) e001124; DOI: 10.1136/bmjopen-2012-001124
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

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