@ARTICLE{
author={Horvath Gabriella A,Zhao Yulin,Tarailo-Graovac Maja,Boelman Cyrus,Gill Harinder,Shyr Casper,Lee James,Blydt-Hansen Ingrid,Drogemoller Britt I,Moreland Jacqueline,Ross Colin J,Wasserman Wyeth W,Masotti Andrea,Slesinger Paul A,Van Karnebeek Clara DM},
year={2018},
title={Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype},
journal={NEUROSCIENCE},
volume={384},
number={},
pages={152-164},
document_type={Article},
} 

@ARTICLE{
author={Tarailo-Graovac Maja,Zhu Jing Yun Alice,Matthews Allison,van Karnebeek Clara DM,Wasserman Wyeth W},
year={2017},
title={Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders},
journal={GENETICS IN MEDICINE},
volume={19},
number={12},
pages={1300-1308},
document_type={Article},
} 

@ARTICLE{
author={Coe Rachel R,McKinnon Margaret L,Tarailo-Graovac Maja,Ross Colin J,Wasserman Wyeth W,Friedman Jan M,Rogers Paul C,van Karnebeek Clara DM},
year={2017},
title={A case of splenomegaly in CBL syndrome},
journal={EUROPEAN JOURNAL OF MEDICAL GENETICS},
volume={60},
number={7},
pages={374-379},
document_type={Article},
} 

@ARTICLE{
author={Tarailo-Graovac Maja,Wasserman Wyeth W,Van Karnebeek Clara DM},
year={2017},
title={Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives},
journal={EXPERT REVIEW OF MOLECULAR DIAGNOSTICS},
volume={17},
number={4},
pages={307-309},
document_type={Editorial Material},
}