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Genetics and genomics
- Screening for cognitive impairment with the Montreal Cognitive Assessment in Chinese patients with acute mild stroke and transient ischaemic attack: a validation studyLijun Zuo, Yanhong Dong, Rongyan Zhu, Zhao Jin, Zixiao Li, Yilong Wang, Xingquan Zhao, Perminder Sachdev, Wei Zhang, Yongjun WangBMJ Open Jul 2016, 6 (7) e011310; DOI: 10.1136/bmjopen-2016-011310
- Is famine exposure during developmental life in rural Bangladesh associated with a metabolic and epigenetic signature in young adulthood? A historical cohort studyS Finer, M S Iqbal, R Lowe, B W Ogunkolade, S Pervin, C Mathews, M Smart, D S Alam, G A HitmanBMJ Open Nov 2016, 6 (11) e011768; DOI: 10.1136/bmjopen-2016-011768
- Towards the genetic basis of cerebral venous thrombosis—the BEAST Consortium: a study protocolIoana Cotlarciuc, Thomas Marjot, Muhammad S Khan, Sini Hiltunen, Elena Haapaniemi, Tiina M Metso, Jukka Putaala, Susanna M Zuurbier, Matthijs C Brouwer, Serena M Passamonti, Paolo Bucciarelli, Emanuela Pappalardo, Tasmin Patel, Paolo Costa, Marina Colombi, Patrícia Canhão, Aleksander Tkach, Rosa Santacroce, Maurizio Margaglione, Giovanni Favuzzi, Elvira Grandone, Donatella Colaizzo, Kostas Spengos, Antonio Arauz, Amanda Hodge, Reina Ditta, Stephanie Debette, Marialuisa Zedde, Guillaume Pare, José M Ferro, Vincent Thijs, Alessandro Pezzini, Jennifer J Majersik, Ida Martinelli, Jonathan M Coutinho, Turgut Tatlisumak, Pankaj SharmaBMJ Open Nov 2016, 6 (11) e012351; DOI: 10.1136/bmjopen-2016-012351
- Cohort profile: the Finnish Genetics of Pre-eclampsia Consortium (FINNPEC)Tiina Jääskeläinen, Seppo Heinonen, Eero Kajantie, Juha Kere, Katja Kivinen, Anneli Pouta, Hannele LaivuoriBMJ Open Nov 2016, 6 (11) e013148; DOI: 10.1136/bmjopen-2016-013148
- HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyMichael J Friez, Susan Sklower Brooks, Roger E Stevenson, Michael Field, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Jozef Gecz, Charles E SchwartzBMJ Open Apr 2016, 6 (4) e009537; DOI: 10.1136/bmjopen-2015-009537
- Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancerSteven N Hart, Marissa S Ellingson, Kim Schahl, Peter T Vedell, Rachel E Carlson, Jason P Sinnwell, Poulami Barman, Hugues Sicotte, Jeanette E Eckel-Passow, Liguo Wang, Krishna R Kalari, Rui Qin, Teresa M Kruisselbrink, Rafael E Jimenez, Alan H Bryce, Winston Tan, Richard Weinshilboum, Liewei Wang, Manish KohliBMJ Open Apr 2016, 6 (4) e010332; DOI: 10.1136/bmjopen-2015-010332
- Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313YDaniel Oder, Nurcan Üçeyler, Dan Liu, Kai Hu, Bernhard Petritsch, Claudia Sommer, Georg Ertl, Christoph Wanner, Peter NordbeckBMJ Open Apr 2016, 6 (4) e010422; DOI: 10.1136/bmjopen-2015-010422
- Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmusHui Zhao, Xiu-Feng Huang, Zhi-Li Zheng, Wen-Li Deng, Xin-Lan Lei, Dong-Jun Xing, Liang Ye, Su-Zhong Xu, Jie Chen, Fang Zhang, Xin-Ping Yu, Zi-Bing JinBMJ Open Apr 2016, 6 (4) e010649; DOI: 10.1136/bmjopen-2015-010649
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