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 ShawSee the full list of authors
29 April 2016
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 BryceSee the full list of authors
15 April 2016
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 Nordbeck
8 April 2016
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 Jin
1 April 2016
Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic reviewNancy S Wexler, Laura Collett, Alice R Wexler, Michael D Rawlins, Sarah J Tabrizi, Ian Douglas, Liam Smeeth, Stephen J Evans
23 February 2016
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry CohortChristophe Rosty, Mark Clendenning, Michael D Walsh, Stine V Eriksen, Melissa C Southey, Ingrid M Winship, Finlay A Macrae, Alex Boussioutas, Nicola K Poplawski, Susan Parry, Julie Arnold, Joanne P Young, Graham Casey, Robert W Haile, Steven GallingerSee the full list of authors
19 February 2016
Association of ACE gene D polymorphism with left ventricular hypertrophy in patients with diastolic heart failure: a case–control studyEhsan Bahramali, Mona Rajabi, Javad Jamshidi, Seyyed Mohammad Mousavi, Mehrdad Zarghami, Alireza Manafi, Negar Firouzabadi
9 February 2016
Genetics of Glucose regulation in Gestation and Growth (Gen3G): a prospective prebirth cohort of mother–child pairs in Sherbrooke, CanadaLaetitia Guillemette, Catherine Allard, Marilyn Lacroix, Julie Patenaude, Marie-Claude Battista, Myriam Doyon, Julie Moreau, Julie Ménard, Luigi Bouchard, Jean-Luc Ardilouze, Patrice Perron, Marie-France Hivert, Jean-Charles Pasquier, Guy Fink
3 February 2016
Role of Helicobacter pylori and interleukin 6 -174 gene polymorphism in dyslipidemia: a case–control studyVesa-Matti Pohjanen, Olli-Pekka Koivurova, Seppo E Niemelä, Riitta A Karttunen, Tuomo J Karttunen
18 January 2016
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysisSian Taylor-Phillips, Karoline Freeman, Julia Geppert, Adeola Agbebiyi, Olalekan A Uthman, Jason Madan, Angus Clarke, Siobhan Quenby, Aileen Clarke
18 January 2016
