Autori: Tarailo-Graovac Maja
| Naslov | Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease (Article) |
| Autori | Avramovic Vladimir  Frederiksen Simona Denise Brkic Marjana P Tarailo-Graovac Maja
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| Info | HUMAN GENOMICS, (2021), vol. 15 br. 1, str. - |
| Projekat | Genome Canada/Genome BC/CIHR LSARP Genomics and Precision Health Silent Genomes Project [GP1-155868, 275SIL]; Alberta Children's Hospital Research Institute Foundation; Ministry of Education, Science and Technological Development of the Republic of Serbia |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights (Article) |
| Autori | Johnstone Devon L ... Tarailo-Graovac Maja ... (broj koautora 53) |
| Info | BRAIN, (2019), vol. 142 br. , str. 542-559 |
| Projekat | B.C. Children's Hospital Foundation; Genome British Columbia [SOF-195]; BC Clinical Genomics Network (Michael Smith Foundation for Health Research) [00032]; Canadian Institutes of Health Research (CIHR)Canadian Institutes of Health Research (CIHR) [301221 |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights (Article) |
| Autori | Johnstone Devon L ... Tarailo-Graovac Maja ... (broj koautora 53) |
| Info | BRAIN, (2019), vol. 142 br. , str. 542-559 |
| Projekat | B.C. Children's Hospital Foundation as '1st Collaborative Area of Innovation'; Genome British Columbia [SOF-195]; BC Clinical Genomics Network (Michael Smith Foundation for Health Research grant) [00032]; Canadian Institutes of Health Research (CIHR) [301 |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function (Article) |
| Autori | Wen Xiao-Yan Tarailo-Graovac Maja ... (broj koautora 31) |
| Info | JCI INSIGHT, (2018), vol. 3 br. 24, str. - |
| Projekat | Natural Sciences and Engineering Research Council of Canada [RGPIN 05389-14]; Brain Canada Foundation; Health Canada [PSG14-3505]; Canada Foundation for Innovation [26233]; BC Children's Hospital Foundation; Genome BC [SOF-195]; Canadian Institutes of Hea |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype (Article) |
| Autori | 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 |
| Info | NEUROSCIENCE, (2018), vol. 384 br. , str. 152-164 |
| Projekat | National Institutes of Health [DA037170, AA018734]; B.C. Children's Hospital Foundation; Genome British Columbia [SOF-195]; Canadian Institutes of Health Research [301221]; NeuroDevNet (Strategic Opportunity Grant); Genome British Columbia; Genome Canada |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation (Article) |
| Autori | Honey C Michael Malhotra Armaan K Tarailo-Graovac Maja van Karnebeek Clara DM Horvath Gabriella A Sulistyanto Adi |
| Info | JOURNAL OF CHILD NEUROLOGY, (2018), vol. 33 br. 6, str. 413-416 |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | The genotypic and phenotypic spectrum of MTO1 deficiency (Article) |
| Autori | O'Byrne James J Tarailo-Graovac Maja ... (broj koautora 33) |
| Info | MOLECULAR GENETICS AND METABOLISM, (2018), vol. 123 br. 1, str. 28-42 |
| Projekat | B.C. Children's Hospital Foundation; Genome British Columbiaa [SOF-195]; BC Clinical Genomics Network [00032]; Canadian Institutes of Health Research [301221]; Genome British Columbia and Genome Canada; TUBITAK from Turkey [111S217]; Michael Smith Foundat |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders (Article) |
| Autori | Tarailo-Graovac Maja Zhu Jing Yun Alice Matthews Allison van Karnebeek Clara DM Wasserman Wyeth W |
| Info | GENETICS IN MEDICINE, (2017), vol. 19 br. 12, str. 1300-1308 |
| Projekat | Genome Canada Bioinformatics and Computational Biology [255ONT]; Canadian Institutes of Health Research (CIHR): Bioinformatics and Computational Biology [BOP-149430]; BC Children's Hospital Foundation (Treatable Intellectual Disability Endeavour in Britis |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | A case of splenomegaly in CBL syndrome (Article) |
| Autori | 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 |
| Info | EUROPEAN JOURNAL OF MEDICAL GENETICS, (2017), vol. 60 br. 7, str. 374-379 |
| Projekat | B.C. Children's Hospital Foundation as "1st Collaborative Area of Innovation"; Genome British Columbia [SOF-195, SOF-139]; BC Clinical Genomics Network [00032]; Canadian Institutes of Health Research [301221]; Genome Canada [ABC4DE]; British Columbia Chil |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives (Editorial Material) |
| Autori | Tarailo-Graovac Maja Wasserman Wyeth W Van Karnebeek Clara DM |
| Info | EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, (2017), vol. 17 br. 4, str. 307-309 |
| Projekat | B.C. Children's Hospital Foundation; Ministry of Education, Science and Technological Development of the Republic of Serbia [ON173052]; Michael Smith Foundation for Health Research Scholar award |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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