Genetics and genomics

Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study

Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, Peter Hammond, Raoul C Hennekam, Johannes H M Merks, on behalf of the TuPS study group, Cora M Aalfs, Jakob K Anninga, Lieke PV Berger, Fonnet E Bleeker, Eveline SJM de Bont, Corianne AJM de Borgie, Charlotte J Dommering, Natasha KA van Eijkelenburg, Peter Hammond, Raoul C Hennekam, Marry M van den Heuvel-Eibrink, Saskia MJ Hopman, Marjolijn CJ Jongmans, Wijnanda A Kors, Tom GW Letteboer, Jan LCM Loeffen, Johannes HM Merks, Maran JW Olderode-Berends, Floor AM Postema, Anja Wagner

10.1136/bmjopen-2016-013237

January 20, 2017

Towards the genetic basis of cerebral venous thrombosis—the BEAST Consortium: a study protocol

Ioana 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 Sharma

10.1136/bmjopen-2016-012351

November 22, 2016

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

10.1136/bmjopen-2016-011598

October 21, 2016