Genetics and genomics

Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial

Salma 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-Paquette, Michael Evans, Jordan Lerner-Ellis, June C Carroll, Jada G Hamilton, Kenneth Offit, Mark Robson, Kevin E Thorpe, Andreas Laupacis, Yvonne Bombard

10.1136/bmjopen-2018-021876

April 26, 2018

Fabry disease due to D313Y and novel GLA mutations

Konstantinos Koulousios, Konstantinos Stylianou, Panagiotis Pateinakis, Maria Zamanakou, Gedeon Loules, Eleni Manou, Parthena Kyriklidou, Christos Katsinas, Alexandra Ouzouni, John Kyriazis, Matthaios Speletas, Anastasios E Germenis

10.1136/bmjopen-2017-017098

October 6, 2017