@ARTICLE{
author={Avramovic Vladimir,Frederiksen Simona Denise,Brkic Marjana P,Tarailo-Graovac Maja},
year={2021},
title={Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease},
journal={HUMAN GENOMICS},
volume={15},
number={1},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Johnstone Devon L,...,Tarailo-Graovac Maja,...,(broj koautora 53)},
year={2019},
title={PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights},
journal={BRAIN},
volume={142},
number={},
pages={542-559},
document_type={Article},
} 

@ARTICLE{
author={Johnstone Devon L,...,Tarailo-Graovac Maja,...,(broj koautora 53)},
year={2019},
title={PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights},
journal={BRAIN},
volume={142},
number={},
pages={542-559},
document_type={Article},
} 

@ARTICLE{
author={Wen Xiao-Yan,Tarailo-Graovac Maja,...,(broj koautora 31)},
year={2018},
title={Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function},
journal={JCI INSIGHT},
volume={3},
number={24},
pages={-},
document_type={Article},
} 

@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={Honey C Michael,Malhotra Armaan K,Tarailo-Graovac Maja,van Karnebeek Clara DM,Horvath Gabriella A,Sulistyanto Adi},
year={2018},
title={GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation},
journal={JOURNAL OF CHILD NEUROLOGY},
volume={33},
number={6},
pages={413-416},
document_type={Article},
} 

@ARTICLE{
author={O'Byrne James J,Tarailo-Graovac Maja,...,(broj koautora 33)},
year={2018},
title={The genotypic and phenotypic spectrum of MTO1 deficiency},
journal={MOLECULAR GENETICS AND METABOLISM},
volume={123},
number={1},
pages={28-42},
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},
}