Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years oldMarco Cipolli, Gloria Tridello, Alessio Micheletto, Sandra Perobelli, Emily Pintani, Simone Cesaro, Emanuela Maserati, Elena Nicolis, Cesare Danesino, , on behalf of the Italian Registry Organization, Maura Ambroni, Maurizio Caniglia, Maria Elena Cantarini, Paola CortiSee the full list of authors
17 January 2019
Chemoprevention in BRCA1 mutation carriers (CIBRAC): protocol for an open allocation crossover feasibility trial assessing mechanisms of chemoprevention with goserelin and anastrozole versus tamoxifen and acceptability of treatmentAideen M Campbell, Melanie Morris, Rebecca Gallagher, Ruth Boyd, Hazel Carson, D Paul Harkin, Ewa Wielogorska, Christopher Elliott, Kienan I Savage, Stuart A McIntosh
22 December 2018
Association of IL-10 and IL-10RA single nucleotide polymorphisms with the responsiveness to HBV vaccination in Chinese infants of HBsAg(+)/HBeAg(−) mothers: a nested case–control studySimin Wen, Yanhua Wu, Yuchen Pan, Mengzhuo Cao, Dan Zhao, Chong Wang, Chuan Wang, Fei Kong, Jie Li, Junqi Niu, Jing Jiang
28 November 2018
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineationJuliette Bacquet, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, Brigitte Chabrol, Emmanuelle Salort-Campana, Emilien Delmont, Jean-Pierre Desvignes, Annie Verschueren, Shahram Attarian, Annabelle Chaussenot, Valérie Delague, Nicolas Levy, Nathalie Bonello-Palot
28 October 2018
Effects of polymorphisms in APOA5 on the plasma levels of triglycerides and risk of coronary heart disease in Jilin, northeast China: a case–control studyYueyue You, Yan-Hua Wu, Yangyu Zhang, Lili Zhang, Yan Song, Wei Bai, Yuanyuan Li, Yaqin Yu, Changgui Kou
4 June 2018
MicroRNA-17 and the prognosis of human carcinomas: a systematic review and meta-analysisChengzhi Huang, Mengya Yu, Xueqing Yao
31 May 2018
Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trialSalma Shickh, Marc Clausen, Chloe Mighton, Selina Casalino, Esha Joshi, Emily Glogowski, Kasmintan A Schrader, Adena Scheer, Christine Elser, Seema Panchal, Andrea Eisen, Tracy Graham, Melyssa Aronson, Kara M Semotiuk, Laura Winter-PaquetteSee the full list of authors
26 April 2018
Heritability of glaucoma and glaucoma-related endophenotypes: systematic review and meta-analysis protocolNigus Gebrmedhin Asefa, Anna Neustaeter, Nomdo M Jansonius, Harold Snieder
28 February 2018
Anticipated health behaviour changes and perceived control in response to disclosure of genetic risk of breast and ovarian cancer: a quantitative survey study among women in the UKSusanne F Meisel, Lindsay Sarah Macduff Fraser, Lucy Side, Sue Gessler, Katie E J Hann, Jane Wardle, Anne Lanceley,
22 December 2017
Fabry disease due to D313Y and novel GLA mutationsKonstantinos Koulousios, Konstantinos Stylianou, Panagiotis Pateinakis, Maria Zamanakou, Gedeon Loules, Eleni Manou, Parthena Kyriklidou, Christos Katsinas, Alexandra Ouzouni, John Kyriazis, Matthaios Speletas, Anastasios E Germenis
6 October 2017