Maja Tarailo-Graovac

Maja Tarailo-Graovac

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Maja Tarailo-Graovac

Maja Tarailo-Graovac

Publications by authors named "Maja Tarailo-Graovac"

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Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.

Biochim Biophys Acta Mol Basis Dis 2019 06 15;1865(6):1182-1191. Epub 2019 Jan 15.

Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology & Metabolism, 1105 AZ Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.01.013DOI Listing
June 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

Uncovering Missing Heritability in Rare Diseases.

Genes (Basel) 2019 04 4;10(4). Epub 2019 Apr 4.

Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.

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http://dx.doi.org/10.3390/genes10040275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523881PMC
April 2019

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Neuroscience 2018 08 29;384:152-164. Epub 2018 May 29.

Division of Biochemical Diseases, Department of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada; Department of Pediatrics and Clinical Genetics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S03064522183038
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http://dx.doi.org/10.1016/j.neuroscience.2018.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679957PMC
August 2018

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Hum Mutat 2018 07 10;39(7):947-953. Epub 2018 May 10.

Departments of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/humu.23538DOI Listing
July 2018

SimPEL: Simulation-based power estimation for sequencing studies of low-prevalence conditions.

Genet Epidemiol 2018 07 22;42(5):480-487. Epub 2018 May 22.

Departments of Biochemistry & Molecular Biology and Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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http://doi.wiley.com/10.1002/gepi.22129
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http://dx.doi.org/10.1002/gepi.22129DOI Listing
July 2018

GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.

J Child Neurol 2018 05;33(6):413-416

10 Division of Neurosurgery, Department of Surgery, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1177/0883073818756134DOI Listing
May 2018

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.

J Inherit Metab Dis 2018 05 2;41(3):435-445. Epub 2018 May 2.

BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.

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http://link.springer.com/10.1007/s10545-018-0139-6
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http://dx.doi.org/10.1007/s10545-018-0139-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959954PMC
May 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

Correction to: FLAGS, frequently mutated genes in public exomes.

BMC Med Genomics 2017 11 29;10(1):69. Epub 2017 Nov 29.

Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Vancouver, BC, Canada.

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http://dx.doi.org/10.1186/s12920-017-0309-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706417PMC
November 2017

A case of splenomegaly in CBL syndrome.

Eur J Med Genet 2017 Jul 13;60(7):374-379. Epub 2017 Apr 13.

British Columbia Children's Hospital Research Institute, Vancouver, Canada; Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Vancouver, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.009DOI Listing
July 2017

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.

Expert Rev Mol Diagn 2017 04 20;17(4):307-309. Epub 2017 Feb 20.

c BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, Department of Pediatrics , University of British Columbia , Vancouver , Canada.

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http://dx.doi.org/10.1080/14737159.2017.1293527DOI Listing
April 2017

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

Am J Med Genet A 2017 Mar;173(3):712-715

BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37621DOI Listing
March 2017

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Orphanet J Rare Dis 2017 02 10;12(1):28. Epub 2017 Feb 10.

Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1186/s13023-017-0584-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303239PMC
February 2017

Episodic ataxia associated with a de novo SCN2A mutation.

Eur J Paediatr Neurol 2016 Sep 14;20(5):772-6. Epub 2016 Jun 14.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.05.020DOI Listing
September 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

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http://dx.doi.org/10.1056/NEJMoa1515792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983272PMC
June 2016

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.

Neurogenetics 2015 Apr 30;16(2):145-9. Epub 2014 Nov 30.

Division of Biochemical Diseases, Rm K3-201, Department of Pediatrics, B.C. Children's & Women's Hospital, 4480 Oak Street, Vancouver, BC, V6H 3 V4, Canada.

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http://link.springer.com/content/pdf/10.1007/s10048-014-0432
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http://link.springer.com/10.1007/s10048-014-0432-y
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http://dx.doi.org/10.1007/s10048-014-0432-yDOI Listing
April 2015

Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation.

BMC Genomics 2015 Mar 18;16:210. Epub 2015 Mar 18.

Department of Molecular Biology and Biochemistry, Simon Fraser University, V5A 1S6, Burnaby, BC, Canada.

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http://dx.doi.org/10.1186/s12864-015-1402-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369104PMC
March 2015

FLAGS, frequently mutated genes in public exomes.

BMC Med Genomics 2014 Dec 3;7:64. Epub 2014 Dec 3.

Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Vancouver, BC, Canada.

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http://dx.doi.org/10.1186/s12920-014-0064-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267152PMC
December 2014

Genome-wide variations in a natural isolate of the nematode Caenorhabditis elegans.

BMC Genomics 2014 Apr 2;15:255. Epub 2014 Apr 2.

Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Drive, Burnaby, British Columbia V5A 1S6, Canada.

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http://dx.doi.org/10.1186/1471-2164-15-255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023591PMC
April 2014

Mos1-mediated transgenesis to probe consequences of single gene mutations in variation-rich isolates of Caenorhabditis elegans.

PLoS One 2012 14;7(11):e48762. Epub 2012 Nov 14.

Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0048762PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498238PMC
May 2013

Proper cyclin B3 dosage is important for precision of metaphase-to-anaphase onset timing in Caenorhabditis elegans.

G3 (Bethesda) 2012 Aug 1;2(8):865-71. Epub 2012 Aug 1.

Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.

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http://dx.doi.org/10.1534/g3.112.002782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411242PMC
August 2012

Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans.

Nucleic Acids Res 2012 Jan 8;40(1):53-64. Epub 2011 Sep 8.

Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada.

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http://dx.doi.org/10.1093/nar/gkr690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245922PMC
January 2012

Duplication of cyb-3 (cyclin B3) suppresses sterility in the absence of mdf-1/MAD1 spindle assembly checkpoint component in Caenorhabditis elegans.

Cell Cycle 2010 Dec 15;9(24):4858-65. Epub 2010 Dec 15.

Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada.

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http://dx.doi.org/10.4161/cc.9.24.14137DOI Listing
December 2010

Spindle assembly checkpoint genes reveal distinct as well as overlapping expression that implicates MDF-2/Mad2 in postembryonic seam cell proliferation in Caenorhabditis elegans.

BMC Cell Biol 2010 Sep 21;11:71. Epub 2010 Sep 21.

Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, V5A 1S6, Canada.

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http://dx.doi.org/10.1186/1471-2121-11-71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955571PMC
September 2010

Polymorphic segmental duplication in the nematode Caenorhabditis elegans.

BMC Genomics 2009 Jul 21;10:329. Epub 2009 Jul 21.

Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.

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http://dx.doi.org/10.1186/1471-2164-10-329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728738PMC
July 2009

Using RepeatMasker to identify repetitive elements in genomic sequences.

Curr Protoc Bioinformatics 2009 Mar;Chapter 4:Unit 4.10

Simon Fraser University, Burnaby, British Columbia, Canada.

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http://dx.doi.org/10.1002/0471250953.bi0410s25DOI Listing
March 2009

Spectrum of mutational events in the absence of DOG-1/FANCJ in Caenorhabditis elegans.

DNA Repair (Amst) 2008 Nov 30;7(11):1846-54. Epub 2008 Aug 30.

Department of Medical Genetics, University of British Columbia, 419-2125 East Mall, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.dnarep.2008.07.011DOI Listing
November 2008