Avramovic Vladimir,Frederiksen Simona Denise,Brkic Marjana P,Tarailo-Graovac Maja (2021) Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease, HUMAN GENOMICS, vol. 15, br. 1, str. - (Article) Johnstone Devon L,...,Tarailo-Graovac Maja,...,(broj koautora 53) (2019) PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights, BRAIN, vol. 142, br. , str. 542-559 (Article) Johnstone Devon L,...,Tarailo-Graovac Maja,...,(broj koautora 53) (2019) PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights, BRAIN, vol. 142, br. , str. 542-559 (Article) Wen Xiao-Yan,Tarailo-Graovac Maja,...,(broj koautora 31) (2018) Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function, JCI INSIGHT, vol. 3, br. 24, str. - (Article) 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 (2018) Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype, NEUROSCIENCE, vol. 384, br. , str. 152-164 (Article) Honey C Michael,Malhotra Armaan K,Tarailo-Graovac Maja,van Karnebeek Clara DM,Horvath Gabriella A,Sulistyanto Adi (2018) GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation, JOURNAL OF CHILD NEUROLOGY, vol. 33, br. 6, str. 413-416 (Article) O'Byrne James J,Tarailo-Graovac Maja,...,(broj koautora 33) (2018) The genotypic and phenotypic spectrum of MTO1 deficiency, MOLECULAR GENETICS AND METABOLISM, vol. 123, br. 1, str. 28-42 (Article) Tarailo-Graovac Maja,Zhu Jing Yun Alice,Matthews Allison,van Karnebeek Clara DM,Wasserman Wyeth W (2017) Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders, GENETICS IN MEDICINE, vol. 19, br. 12, str. 1300-1308 (Article) 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 (2017) A case of splenomegaly in CBL syndrome, EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 60, br. 7, str. 374-379 (Article)