• eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants 

      Verma, Anurag; Verma, Shefali S.; Pendergrass, Sarah A.; Crawford, Dana C.; Crosslin, David R.; Kuivaniemi, Helena; Bush, William S.; Bradford, Yuki; Kullo, Iftikhar; Bielinski, Suzette J.; Li, Rongling; Denny, Joshua C.; Peissig, Peggy; Hebbring, Scott; De Andrade, Mariza; Ritchie, Marylyn D.; Tromp, Gerard (BioMed Central, 2016)
      Background: We explored premature stop-gain variants to test the hypothesis that variants, which are likely to have a consequence on protein structure and function, will reveal important insights with respect to the phenotypes ...
    • Shared genetic risk factors of intracranial, abdominal, and thoracic aneurysms 

      Van 't Hof, Femke N. G.; Ruigrok, Ynte M.; Lee, Cue Hyunkyu; Ripke, Stephan; Anderson, Graig; De Andrade, Mariza; Tromp, Gerard (American Heart Association, 2016-07-14)
      Background: Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co‐occur, we hypothesized that ...