The role of the clinician in the multi-omics era: are you ready? View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-05

AUTHORS

Clara D. M. van Karnebeek, Saskia B. Wortmann, Maja Tarailo-Graovac, Mirjam Langeveld, Carlos R. Ferreira, Jiddeke M. van de Kamp, Carla E. Hollak, Wyeth W. Wasserman, Hans R. Waterham, Ron A. Wevers, Tobias B. Haack, Ronald J.A. Wanders, Kym M. Boycott

ABSTRACT

Since Garrod's first description of alkaptonuria in 1902, and newborn screening for phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized, and participatory) has been a reality for the clinician serving patients with inherited metabolic diseases. The era of high-throughput technologies promises to accelerate its scale dramatically. Genomics, transcriptomics, epigenomics, proteomics, glycomics, metabolomics, and lipidomics offer an amazing opportunity for holistic investigation and contextual pathophysiologic understanding of inherited metabolic diseases for precise diagnosis and tailored treatment. While each of the -omics technologies is important to systems biology, some are more mature than others. Exome sequencing is emerging as a reimbursed test in clinics around the world, and untargeted metabolomics has the potential to serve as a single biochemical testing platform. The challenge lies in the integration and cautious interpretation of these big data, with translation into clinically meaningful information and/or action for our patients. A daunting but exciting task for the clinician; we provide clinical cases to illustrate the importance of his/her role as the connector between physicians, laboratory experts and researchers in the basic, computer, and clinical sciences. Open collaborations, data sharing, functional assays, and model organisms play a key role in the validation of -omics discoveries. Having all the right expertise at the table when discussing the diagnostic approach and individualized management plan according to the information yielded by -omics investigations (e.g., actionable mutations, novel therapeutic interventions), is the stepping stone of P4 medicine. Patient participation and the adjustment of the medical team's plan to his/her and the family's wishes most certainly is the capstone. Are you ready? More... »

PAGES

571-582

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10545-017-0128-1

DOI

http://dx.doi.org/10.1007/s10545-017-0128-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100558386

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29362952


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0601", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biochemistry and Cell Biology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Department of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands", 
            "Departments of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children\u2019s Research Institute, University of British Columbia, Vancouver, BC, Canada", 
            "Deparment of Pediatrics (Room H7-224), Emma Children\u2019s Hospital, Academic Medical Centre, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "van Karnebeek", 
        "givenName": "Clara D. M.", 
        "id": "sg:person.01037477313.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037477313.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Technical University Munich", 
          "id": "https://www.grid.ac/institutes/grid.6936.a", 
          "name": [
            "Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria", 
            "Institute of Human Genetics, Helmholtz Zentrum M\u00fcnchen, Neuherberg, Germany", 
            "Institute of Human Genetics, Technische Universit\u00e4t M\u00fcnchen, Munich, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wortmann", 
        "givenName": "Saskia B.", 
        "id": "sg:person.0605333403.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0605333403.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Calgary", 
          "id": "https://www.grid.ac/institutes/grid.22072.35", 
          "name": [
            "Departments of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children\u2019s Research Institute, University of British Columbia, Vancouver, BC, Canada", 
            "Departments of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children\u2019s Research Institute, Vancouver, BC, Canada", 
            "Departments of Biochemistry, Molecular Biology, and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, CA, Canada", 
            "Alberta Children\u2019s Hospital Research Institute, University of Calgary, Calgary, CA, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tarailo-Graovac", 
        "givenName": "Maja", 
        "id": "sg:person.01016721737.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01016721737.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Department of Endocrinology and Metabolism, Academic Medical Centre, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Langeveld", 
        "givenName": "Mirjam", 
        "id": "sg:person.0653251603.57", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653251603.57"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Human Genome Research Institute", 
          "id": "https://www.grid.ac/institutes/grid.280128.1", 
          "name": [
            "National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ferreira", 
        "givenName": "Carlos R.", 
        "id": "sg:person.01030470715.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01030470715.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "van de Kamp", 
        "givenName": "Jiddeke M.", 
        "id": "sg:person.013624316474.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013624316474.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Department of Endocrinology and Metabolism, Academic Medical Centre, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hollak", 
        "givenName": "Carla E.", 
        "id": "sg:person.07745174437.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07745174437.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of British Columbia", 
          "id": "https://www.grid.ac/institutes/grid.17091.3e", 
          "name": [
            "Departments of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children\u2019s Research Institute, University of British Columbia, Vancouver, BC, Canada", 
            "Departments of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children\u2019s Research Institute, Vancouver, BC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wasserman", 
        "givenName": "Wyeth W.", 
        "id": "sg:person.01164162122.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164162122.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Laboratory Division & Department of Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Waterham", 
        "givenName": "Hans R.", 
        "id": "sg:person.01042010447.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042010447.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Radboud University Nijmegen Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.10417.33", 
          "name": [
            "Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wevers", 
        "givenName": "Ron A.", 
        "id": "sg:person.01212150366.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212150366.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of T\u00fcbingen", 
          "id": "https://www.grid.ac/institutes/grid.10392.39", 
          "name": [
            "Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Haack", 
        "givenName": "Tobias B.", 
        "id": "sg:person.01044044541.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044044541.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Laboratory Division & Department of Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wanders", 
        "givenName": "Ronald J.A.", 
        "id": "sg:person.016473431437.68", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016473431437.68"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Boycott", 
        "givenName": "Kym M.", 
        "id": "sg:person.01231345512.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231345512.97"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1371/journal.pmed.0030208", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000570196"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gku1205", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001175538"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddu218", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002493697"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2015.201", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003067192", 
          "https://doi.org/10.1038/gim.2015.201"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2015.11.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003141783"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2016.03.016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003567775"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.pediatrneurol.2016.09.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003665414"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.mayocp.2016.08.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004495299"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2015.05.011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006812763"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jamapsychiatry.2016.3798", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007577140"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.5858/arpa.2013-0625-oa", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007686399"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-014-9764-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009847749", 
          "https://doi.org/10.1007/s10545-014-9764-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2016.03.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010331875"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jama.2014.14604", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011799003"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/npjgenmed.2015.12", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015288397", 
          "https://doi.org/10.1038/npjgenmed.2015.12"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2015.148", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015723556", 
          "https://doi.org/10.1038/gim.2015.148"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2014.01.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016608185"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa1516767", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017038770"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.2012.04347.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019269867"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-015-9823-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019385227", 
          "https://doi.org/10.1007/s10545-015-9823-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/aww221", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019443080"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa1515792", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020152170"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22858", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020622625"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22850", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021864880"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/8904_2016_559", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022792174", 
          "https://doi.org/10.1007/8904_2016_559"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2014.01.011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022834924"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/biot.201100306", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024058968"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-015-9893-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024312806", 
          "https://doi.org/10.1007/s10545-015-9893-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awt012", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024755740"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/joim.12412", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026688583"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00438-015-1130-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027316967", 
          "https://doi.org/10.1007/s00438-015-1130-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00438-015-1130-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027316967", 
          "https://doi.org/10.1007/s00438-015-1130-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrendo.2016.90", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028019216", 
          "https://doi.org/10.1038/nrendo.2016.90"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3390/ijms17091555", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028490605"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1586/14737159.2015.976555", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028577804"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3182141b48", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030613086", 
          "https://doi.org/10.1097/gim.0b013e3182141b48"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3182141b48", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030613086", 
          "https://doi.org/10.1097/gim.0b013e3182141b48"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10719-015-9639-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032251537", 
          "https://doi.org/10.1007/s10719-015-9639-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10719-015-9639-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032251537", 
          "https://doi.org/10.1007/s10719-015-9639-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-014-0197-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032738311", 
          "https://doi.org/10.1186/s13023-014-0197-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-014-0197-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032738311", 
          "https://doi.org/10.1186/s13023-014-0197-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg.2016.49", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033123702", 
          "https://doi.org/10.1038/nrg.2016.49"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-014-0141-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033234736", 
          "https://doi.org/10.1186/s13023-014-0141-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-014-0141-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033234736", 
          "https://doi.org/10.1186/s13023-014-0141-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/acn3.203", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033264489"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/iub.336", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033799432"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/iub.336", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033799432"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13148-016-0254-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033897112", 
          "https://doi.org/10.1186/s13148-016-0254-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13148-016-0254-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033897112", 
          "https://doi.org/10.1186/s13148-016-0254-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jama.2014.14601", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035740594"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-014-9788-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035759382", 
          "https://doi.org/10.1007/s10545-014-9788-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/srep38803", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036152741", 
          "https://doi.org/10.1038/srep38803"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.23963", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036361732"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.dhjo.2015.03.011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036973556"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-7-47", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037362210", 
          "https://doi.org/10.1186/1750-1172-7-47"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3304", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037396981", 
          "https://doi.org/10.1038/ng.3304"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-014-9792-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037526141", 
          "https://doi.org/10.1007/s10545-014-9792-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.2005.091637", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038454402"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22848", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038574852"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12920-015-0108-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040439078", 
          "https://doi.org/10.1186/s12920-015-0108-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12920-015-0108-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040439078", 
          "https://doi.org/10.1186/s12920-015-0108-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2016.88", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041583016", 
          "https://doi.org/10.1038/gim.2016.88"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0156359", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041761915"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-015-0243-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042231210", 
          "https://doi.org/10.1186/s13023-015-0243-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-015-0243-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042231210", 
          "https://doi.org/10.1186/s13023-015-0243-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2014.293", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043175465", 
          "https://doi.org/10.1038/ejhg.2014.293"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nm1115-1242", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044063603", 
          "https://doi.org/10.1038/nm1115-1242"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gks1065", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044604503"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1067/mpd.2002.122394", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045479211"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms10207", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047847576", 
          "https://doi.org/10.1038/ncomms10207"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1515/bchm2.1934.227.1-4.169", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047910113"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2016.5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049012471", 
          "https://doi.org/10.1038/gim.2016.5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2011.11.191", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050619565"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nm1366", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051162405", 
          "https://doi.org/10.1038/nm1366"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nm1366", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051162405", 
          "https://doi.org/10.1038/nm1366"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.1418631112", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052091004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature13394", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052525502", 
          "https://doi.org/10.1038/nature13394"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3578", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052576892", 
          "https://doi.org/10.1038/ng.3578"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3578", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052576892", 
          "https://doi.org/10.1038/ng.3578"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/dds123", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052763729"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3233/jnd-159900", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052841436"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-0034-1399755", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057332165"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/aww300", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059445293"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.105.1.89", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1067820370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.105.1.e10", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1067820372"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2017.01.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1074220182"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075296050", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1967/s0024499100110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1078870388"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082609121", 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-017-0584-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083746235", 
          "https://doi.org/10.1186/s13023-017-0584-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-017-0584-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083746235", 
          "https://doi.org/10.1186/s13023-017-0584-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/14737159.2017.1293527", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083778597"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12920-017-0247-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083854013", 
          "https://doi.org/10.1186/s12920-017-0247-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12920-017-0247-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083854013", 
          "https://doi.org/10.1186/s12920-017-0247-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.38198", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084007812"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3809", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084129149", 
          "https://doi.org/10.1038/ng.3809"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13072-017-0118-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084252237", 
          "https://doi.org/10.1186/s13072-017-0118-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13072-017-0118-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084252237", 
          "https://doi.org/10.1186/s13072-017-0118-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13073-017-0412-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084252244", 
          "https://doi.org/10.1186/s13073-017-0412-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13073-017-0412-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084252244", 
          "https://doi.org/10.1186/s13073-017-0412-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/scitranslmed.aal5209", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084959774"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gt.2017.29", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085060348", 
          "https://doi.org/10.1038/gt.2017.29"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.aca.2017.04.038", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085062435"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2017.04.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085131248"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2017.04.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085175044"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.annepidem.2017.05.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085388524"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms15824", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085983509", 
          "https://doi.org/10.1038/ncomms15824"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2017.41", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1086033981", 
          "https://doi.org/10.1038/gim.2017.41"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2017.06.014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090316620"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2017.108", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090829209", 
          "https://doi.org/10.1038/gim.2017.108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2017.119", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090954238", 
          "https://doi.org/10.1038/gim.2017.119"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-017-0061-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091158070", 
          "https://doi.org/10.1007/s10545-017-0061-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-017-0061-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091158070", 
          "https://doi.org/10.1007/s10545-017-0061-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1534/genetics.117.203067", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091613464"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1534/genetics.117.203067", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091613464"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1534/genetics.117.203067", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091613464"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.23340", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091744182"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-981-10-5717-5_3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091806338", 
          "https://doi.org/10.1007/978-981-10-5717-5_3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-017-0109-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092693193", 
          "https://doi.org/10.1007/s10545-017-0109-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13063-017-2287-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092908199", 
          "https://doi.org/10.1186/s13063-017-2287-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.mito.2018.01.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1100167987"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.mito.2018.01.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1100167987"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.mito.2018.01.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1100167987"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-017-0125-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1100424605", 
          "https://doi.org/10.1007/s10545-017-0125-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-017-0131-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1101083579", 
          "https://doi.org/10.1007/s10545-017-0131-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-018-0161-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1101624721", 
          "https://doi.org/10.1007/s10545-018-0161-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-018-0161-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1101624721", 
          "https://doi.org/10.1007/s10545-018-0161-8"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-05", 
    "datePublishedReg": "2018-05-01", 
    "description": "Since Garrod's first description of alkaptonuria in 1902, and newborn screening for phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized, and participatory) has been a reality for the clinician serving patients with inherited metabolic diseases. The era of high-throughput technologies promises to accelerate its scale dramatically. Genomics, transcriptomics, epigenomics, proteomics, glycomics, metabolomics, and lipidomics offer an amazing opportunity for holistic investigation and contextual pathophysiologic understanding of inherited metabolic diseases for precise diagnosis and tailored treatment. While each of the -omics technologies is important to systems biology, some are more mature than others. Exome sequencing is emerging as a reimbursed test in clinics around the world, and untargeted metabolomics has the potential to serve as a single biochemical testing platform. The challenge lies in the integration and cautious interpretation of these big data, with translation into clinically meaningful information and/or action\u00a0for our patients. A daunting but exciting task for the clinician; we provide clinical cases to illustrate the importance of his/her role as the connector between physicians, laboratory experts and researchers in the basic, computer, and clinical sciences. Open collaborations, data sharing, functional assays, and model organisms play a key role in the validation of -omics discoveries. Having all the right expertise at the table when discussing the diagnostic approach and individualized management plan according to the information yielded by -omics investigations (e.g., actionable mutations, novel therapeutic interventions), is the stepping stone of P4 medicine. Patient participation and the adjustment of the medical team's plan to his/her and the family's wishes most certainly is the capstone. Are you ready?", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s10545-017-0128-1", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1090550", 
        "issn": [
          "0141-8955", 
          "1573-2665"
        ], 
        "name": "Journal of Inherited Metabolic Disease", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "41"
      }
    ], 
    "name": "The role of the clinician in the multi-omics era: are you ready?", 
    "pagination": "571-582", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "63b1d4478327c96e5a773b934da271654c094daf214aefada322b8949c8f3f82"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29362952"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7910918"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s10545-017-0128-1"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1100558386"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s10545-017-0128-1", 
      "https://app.dimensions.ai/details/publication/pub.1100558386"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T20:10", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8681_00000603.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs10545-017-0128-1"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s10545-017-0128-1'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10545-017-0128-1'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10545-017-0128-1'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10545-017-0128-1'


 

This table displays all metadata directly associated to this object as RDF triples.

549 TRIPLES      21 PREDICATES      135 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s10545-017-0128-1 schema:about anzsrc-for:06
2 anzsrc-for:0601
3 schema:author N884bd1f060c140b48c1283e909479577
4 schema:citation sg:pub.10.1007/8904_2016_559
5 sg:pub.10.1007/978-981-10-5717-5_3
6 sg:pub.10.1007/s00438-015-1130-7
7 sg:pub.10.1007/s10545-014-9764-x
8 sg:pub.10.1007/s10545-014-9788-2
9 sg:pub.10.1007/s10545-014-9792-6
10 sg:pub.10.1007/s10545-015-9823-y
11 sg:pub.10.1007/s10545-015-9893-x
12 sg:pub.10.1007/s10545-017-0061-3
13 sg:pub.10.1007/s10545-017-0109-4
14 sg:pub.10.1007/s10545-017-0125-4
15 sg:pub.10.1007/s10545-017-0131-6
16 sg:pub.10.1007/s10545-018-0161-8
17 sg:pub.10.1007/s10719-015-9639-x
18 sg:pub.10.1038/ejhg.2014.293
19 sg:pub.10.1038/gim.2015.148
20 sg:pub.10.1038/gim.2015.201
21 sg:pub.10.1038/gim.2016.5
22 sg:pub.10.1038/gim.2016.88
23 sg:pub.10.1038/gim.2017.108
24 sg:pub.10.1038/gim.2017.119
25 sg:pub.10.1038/gim.2017.41
26 sg:pub.10.1038/gt.2017.29
27 sg:pub.10.1038/nature13394
28 sg:pub.10.1038/ncomms10207
29 sg:pub.10.1038/ncomms15824
30 sg:pub.10.1038/ng.3304
31 sg:pub.10.1038/ng.3578
32 sg:pub.10.1038/ng.3809
33 sg:pub.10.1038/nm1115-1242
34 sg:pub.10.1038/nm1366
35 sg:pub.10.1038/npjgenmed.2015.12
36 sg:pub.10.1038/nrendo.2016.90
37 sg:pub.10.1038/nrg.2016.49
38 sg:pub.10.1038/srep38803
39 sg:pub.10.1097/gim.0b013e3182141b48
40 sg:pub.10.1186/1750-1172-7-47
41 sg:pub.10.1186/s12920-015-0108-y
42 sg:pub.10.1186/s12920-017-0247-4
43 sg:pub.10.1186/s13023-014-0141-5
44 sg:pub.10.1186/s13023-014-0197-2
45 sg:pub.10.1186/s13023-015-0243-8
46 sg:pub.10.1186/s13023-017-0584-6
47 sg:pub.10.1186/s13063-017-2287-7
48 sg:pub.10.1186/s13072-017-0118-4
49 sg:pub.10.1186/s13073-017-0412-6
50 sg:pub.10.1186/s13148-016-0254-x
51 https://app.dimensions.ai/details/publication/pub.1075296050
52 https://app.dimensions.ai/details/publication/pub.1082609121
53 https://doi.org/10.1001/jama.2014.14601
54 https://doi.org/10.1001/jama.2014.14604
55 https://doi.org/10.1001/jamapsychiatry.2016.3798
56 https://doi.org/10.1002/acn3.203
57 https://doi.org/10.1002/ajmg.a.38198
58 https://doi.org/10.1002/ana.23963
59 https://doi.org/10.1002/biot.201100306
60 https://doi.org/10.1002/humu.22848
61 https://doi.org/10.1002/humu.22850
62 https://doi.org/10.1002/humu.22858
63 https://doi.org/10.1002/humu.23340
64 https://doi.org/10.1002/iub.336
65 https://doi.org/10.1016/j.aca.2017.04.038
66 https://doi.org/10.1016/j.ajhg.2014.01.006
67 https://doi.org/10.1016/j.ajhg.2016.03.016
68 https://doi.org/10.1016/j.ajhg.2017.01.002
69 https://doi.org/10.1016/j.ajhg.2017.04.003
70 https://doi.org/10.1016/j.ajhg.2017.04.004
71 https://doi.org/10.1016/j.annepidem.2017.05.002
72 https://doi.org/10.1016/j.dhjo.2015.03.011
73 https://doi.org/10.1016/j.mayocp.2016.08.008
74 https://doi.org/10.1016/j.mito.2018.01.001
75 https://doi.org/10.1016/j.pediatrneurol.2016.09.003
76 https://doi.org/10.1016/j.ymgme.2011.11.191
77 https://doi.org/10.1016/j.ymgme.2014.01.011
78 https://doi.org/10.1016/j.ymgme.2015.05.011
79 https://doi.org/10.1016/j.ymgme.2015.11.008
80 https://doi.org/10.1016/j.ymgme.2016.03.009
81 https://doi.org/10.1016/j.ymgme.2017.06.014
82 https://doi.org/10.1055/s-0034-1399755
83 https://doi.org/10.1056/nejmoa1515792
84 https://doi.org/10.1056/nejmoa1516767
85 https://doi.org/10.1067/mpd.2002.122394
86 https://doi.org/10.1073/pnas.1418631112
87 https://doi.org/10.1080/14737159.2017.1293527
88 https://doi.org/10.1093/brain/awt012
89 https://doi.org/10.1093/brain/aww221
90 https://doi.org/10.1093/brain/aww300
91 https://doi.org/10.1093/hmg/dds123
92 https://doi.org/10.1093/hmg/ddu218
93 https://doi.org/10.1093/nar/gks1065
94 https://doi.org/10.1093/nar/gku1205
95 https://doi.org/10.1111/j.1469-8749.2012.04347.x
96 https://doi.org/10.1111/joim.12412
97 https://doi.org/10.1126/scitranslmed.aal5209
98 https://doi.org/10.1136/adc.2005.091637
99 https://doi.org/10.1371/journal.pmed.0030208
100 https://doi.org/10.1371/journal.pone.0156359
101 https://doi.org/10.1515/bchm2.1934.227.1-4.169
102 https://doi.org/10.1534/genetics.117.203067
103 https://doi.org/10.1542/peds.105.1.89
104 https://doi.org/10.1542/peds.105.1.e10
105 https://doi.org/10.1586/14737159.2015.976555
106 https://doi.org/10.1967/s0024499100110
107 https://doi.org/10.3233/jnd-159900
108 https://doi.org/10.3390/ijms17091555
109 https://doi.org/10.5858/arpa.2013-0625-oa
110 schema:datePublished 2018-05
111 schema:datePublishedReg 2018-05-01
112 schema:description Since Garrod's first description of alkaptonuria in 1902, and newborn screening for phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized, and participatory) has been a reality for the clinician serving patients with inherited metabolic diseases. The era of high-throughput technologies promises to accelerate its scale dramatically. Genomics, transcriptomics, epigenomics, proteomics, glycomics, metabolomics, and lipidomics offer an amazing opportunity for holistic investigation and contextual pathophysiologic understanding of inherited metabolic diseases for precise diagnosis and tailored treatment. While each of the -omics technologies is important to systems biology, some are more mature than others. Exome sequencing is emerging as a reimbursed test in clinics around the world, and untargeted metabolomics has the potential to serve as a single biochemical testing platform. The challenge lies in the integration and cautious interpretation of these big data, with translation into clinically meaningful information and/or action for our patients. A daunting but exciting task for the clinician; we provide clinical cases to illustrate the importance of his/her role as the connector between physicians, laboratory experts and researchers in the basic, computer, and clinical sciences. Open collaborations, data sharing, functional assays, and model organisms play a key role in the validation of -omics discoveries. Having all the right expertise at the table when discussing the diagnostic approach and individualized management plan according to the information yielded by -omics investigations (e.g., actionable mutations, novel therapeutic interventions), is the stepping stone of P4 medicine. Patient participation and the adjustment of the medical team's plan to his/her and the family's wishes most certainly is the capstone. Are you ready?
113 schema:genre research_article
114 schema:inLanguage en
115 schema:isAccessibleForFree true
116 schema:isPartOf N0af6e6c063d14695945596546e0470c1
117 N8e4743d7aee0493a96feab7179f793f3
118 sg:journal.1090550
119 schema:name The role of the clinician in the multi-omics era: are you ready?
120 schema:pagination 571-582
121 schema:productId N23f39925e02b4313a3878b3693749c34
122 N311ac9aaac7f48c7aafff393f8c1d607
123 N314d4667c0964f6ca81192863f9497cf
124 N4cf774fc42ac4f66a7a868660dd94d02
125 N9a7e0d086b46429781a14aadb6a88c07
126 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100558386
127 https://doi.org/10.1007/s10545-017-0128-1
128 schema:sdDatePublished 2019-04-10T20:10
129 schema:sdLicense https://scigraph.springernature.com/explorer/license/
130 schema:sdPublisher Nadfcc4ce7fb343c3b434a2496d66b5ca
131 schema:url https://link.springer.com/10.1007%2Fs10545-017-0128-1
132 sgo:license sg:explorer/license/
133 sgo:sdDataset articles
134 rdf:type schema:ScholarlyArticle
135 N0af6e6c063d14695945596546e0470c1 schema:issueNumber 3
136 rdf:type schema:PublicationIssue
137 N1db5c988a27046e5a9cc7a721c3440be rdf:first sg:person.07745174437.44
138 rdf:rest N22c42bc5a2e344f9b64fc08a06db6139
139 N20c41d7066f149af83d828be042efab5 rdf:first sg:person.01016721737.77
140 rdf:rest N9ebd6bef807944a0807edcf7f27ced2c
141 N22c42bc5a2e344f9b64fc08a06db6139 rdf:first sg:person.01164162122.26
142 rdf:rest Nfff6d6d0c2c7494b91d4c1edaeff2806
143 N23f39925e02b4313a3878b3693749c34 schema:name dimensions_id
144 schema:value pub.1100558386
145 rdf:type schema:PropertyValue
146 N311ac9aaac7f48c7aafff393f8c1d607 schema:name pubmed_id
147 schema:value 29362952
148 rdf:type schema:PropertyValue
149 N314d4667c0964f6ca81192863f9497cf schema:name readcube_id
150 schema:value 63b1d4478327c96e5a773b934da271654c094daf214aefada322b8949c8f3f82
151 rdf:type schema:PropertyValue
152 N3f5a327e464448f0990a59307f7f1078 rdf:first sg:person.013624316474.21
153 rdf:rest N1db5c988a27046e5a9cc7a721c3440be
154 N47383913175a4f7d83dff86bc29365f7 schema:name Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
155 rdf:type schema:Organization
156 N499f34478e4e4b2aa4bedf548cbad9fc rdf:first sg:person.016473431437.68
157 rdf:rest Neae2b2c68dc14c829167231c55049906
158 N4cf774fc42ac4f66a7a868660dd94d02 schema:name doi
159 schema:value 10.1007/s10545-017-0128-1
160 rdf:type schema:PropertyValue
161 N884bd1f060c140b48c1283e909479577 rdf:first sg:person.01037477313.40
162 rdf:rest Nf777fd529b544cfd94b2698f7369a091
163 N8e4743d7aee0493a96feab7179f793f3 schema:volumeNumber 41
164 rdf:type schema:PublicationVolume
165 N9a7e0d086b46429781a14aadb6a88c07 schema:name nlm_unique_id
166 schema:value 7910918
167 rdf:type schema:PropertyValue
168 N9ebd6bef807944a0807edcf7f27ced2c rdf:first sg:person.0653251603.57
169 rdf:rest Ndfbba46ce4284c7ab44443b028c19b2c
170 Nadfcc4ce7fb343c3b434a2496d66b5ca schema:name Springer Nature - SN SciGraph project
171 rdf:type schema:Organization
172 Nbbada2a367e8486687a642aae25c3863 rdf:first sg:person.01212150366.38
173 rdf:rest Nc5b66d1fbb074e079cf067e26fadda4b
174 Nc5b66d1fbb074e079cf067e26fadda4b rdf:first sg:person.01044044541.28
175 rdf:rest N499f34478e4e4b2aa4bedf548cbad9fc
176 Ndfbba46ce4284c7ab44443b028c19b2c rdf:first sg:person.01030470715.97
177 rdf:rest N3f5a327e464448f0990a59307f7f1078
178 Neae2b2c68dc14c829167231c55049906 rdf:first sg:person.01231345512.97
179 rdf:rest rdf:nil
180 Nf777fd529b544cfd94b2698f7369a091 rdf:first sg:person.0605333403.31
181 rdf:rest N20c41d7066f149af83d828be042efab5
182 Nfff6d6d0c2c7494b91d4c1edaeff2806 rdf:first sg:person.01042010447.24
183 rdf:rest Nbbada2a367e8486687a642aae25c3863
184 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
185 schema:name Biological Sciences
186 rdf:type schema:DefinedTerm
187 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
188 schema:name Biochemistry and Cell Biology
189 rdf:type schema:DefinedTerm
190 sg:journal.1090550 schema:issn 0141-8955
191 1573-2665
192 schema:name Journal of Inherited Metabolic Disease
193 rdf:type schema:Periodical
194 sg:person.01016721737.77 schema:affiliation https://www.grid.ac/institutes/grid.22072.35
195 schema:familyName Tarailo-Graovac
196 schema:givenName Maja
197 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01016721737.77
198 rdf:type schema:Person
199 sg:person.01030470715.97 schema:affiliation https://www.grid.ac/institutes/grid.280128.1
200 schema:familyName Ferreira
201 schema:givenName Carlos R.
202 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01030470715.97
203 rdf:type schema:Person
204 sg:person.01037477313.40 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
205 schema:familyName van Karnebeek
206 schema:givenName Clara D. M.
207 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037477313.40
208 rdf:type schema:Person
209 sg:person.01042010447.24 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
210 schema:familyName Waterham
211 schema:givenName Hans R.
212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042010447.24
213 rdf:type schema:Person
214 sg:person.01044044541.28 schema:affiliation https://www.grid.ac/institutes/grid.10392.39
215 schema:familyName Haack
216 schema:givenName Tobias B.
217 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044044541.28
218 rdf:type schema:Person
219 sg:person.01164162122.26 schema:affiliation https://www.grid.ac/institutes/grid.17091.3e
220 schema:familyName Wasserman
221 schema:givenName Wyeth W.
222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164162122.26
223 rdf:type schema:Person
224 sg:person.01212150366.38 schema:affiliation https://www.grid.ac/institutes/grid.10417.33
225 schema:familyName Wevers
226 schema:givenName Ron A.
227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212150366.38
228 rdf:type schema:Person
229 sg:person.01231345512.97 schema:affiliation N47383913175a4f7d83dff86bc29365f7
230 schema:familyName Boycott
231 schema:givenName Kym M.
232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231345512.97
233 rdf:type schema:Person
234 sg:person.013624316474.21 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
235 schema:familyName van de Kamp
236 schema:givenName Jiddeke M.
237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013624316474.21
238 rdf:type schema:Person
239 sg:person.016473431437.68 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
240 schema:familyName Wanders
241 schema:givenName Ronald J.A.
242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016473431437.68
243 rdf:type schema:Person
244 sg:person.0605333403.31 schema:affiliation https://www.grid.ac/institutes/grid.6936.a
245 schema:familyName Wortmann
246 schema:givenName Saskia B.
247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0605333403.31
248 rdf:type schema:Person
249 sg:person.0653251603.57 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
250 schema:familyName Langeveld
251 schema:givenName Mirjam
252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653251603.57
253 rdf:type schema:Person
254 sg:person.07745174437.44 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
255 schema:familyName Hollak
256 schema:givenName Carla E.
257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07745174437.44
258 rdf:type schema:Person
259 sg:pub.10.1007/8904_2016_559 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022792174
260 https://doi.org/10.1007/8904_2016_559
261 rdf:type schema:CreativeWork
262 sg:pub.10.1007/978-981-10-5717-5_3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091806338
263 https://doi.org/10.1007/978-981-10-5717-5_3
264 rdf:type schema:CreativeWork
265 sg:pub.10.1007/s00438-015-1130-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027316967
266 https://doi.org/10.1007/s00438-015-1130-7
267 rdf:type schema:CreativeWork
268 sg:pub.10.1007/s10545-014-9764-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1009847749
269 https://doi.org/10.1007/s10545-014-9764-x
270 rdf:type schema:CreativeWork
271 sg:pub.10.1007/s10545-014-9788-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035759382
272 https://doi.org/10.1007/s10545-014-9788-2
273 rdf:type schema:CreativeWork
274 sg:pub.10.1007/s10545-014-9792-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037526141
275 https://doi.org/10.1007/s10545-014-9792-6
276 rdf:type schema:CreativeWork
277 sg:pub.10.1007/s10545-015-9823-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1019385227
278 https://doi.org/10.1007/s10545-015-9823-y
279 rdf:type schema:CreativeWork
280 sg:pub.10.1007/s10545-015-9893-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1024312806
281 https://doi.org/10.1007/s10545-015-9893-x
282 rdf:type schema:CreativeWork
283 sg:pub.10.1007/s10545-017-0061-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091158070
284 https://doi.org/10.1007/s10545-017-0061-3
285 rdf:type schema:CreativeWork
286 sg:pub.10.1007/s10545-017-0109-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092693193
287 https://doi.org/10.1007/s10545-017-0109-4
288 rdf:type schema:CreativeWork
289 sg:pub.10.1007/s10545-017-0125-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100424605
290 https://doi.org/10.1007/s10545-017-0125-4
291 rdf:type schema:CreativeWork
292 sg:pub.10.1007/s10545-017-0131-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101083579
293 https://doi.org/10.1007/s10545-017-0131-6
294 rdf:type schema:CreativeWork
295 sg:pub.10.1007/s10545-018-0161-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101624721
296 https://doi.org/10.1007/s10545-018-0161-8
297 rdf:type schema:CreativeWork
298 sg:pub.10.1007/s10719-015-9639-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1032251537
299 https://doi.org/10.1007/s10719-015-9639-x
300 rdf:type schema:CreativeWork
301 sg:pub.10.1038/ejhg.2014.293 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043175465
302 https://doi.org/10.1038/ejhg.2014.293
303 rdf:type schema:CreativeWork
304 sg:pub.10.1038/gim.2015.148 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015723556
305 https://doi.org/10.1038/gim.2015.148
306 rdf:type schema:CreativeWork
307 sg:pub.10.1038/gim.2015.201 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003067192
308 https://doi.org/10.1038/gim.2015.201
309 rdf:type schema:CreativeWork
310 sg:pub.10.1038/gim.2016.5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049012471
311 https://doi.org/10.1038/gim.2016.5
312 rdf:type schema:CreativeWork
313 sg:pub.10.1038/gim.2016.88 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041583016
314 https://doi.org/10.1038/gim.2016.88
315 rdf:type schema:CreativeWork
316 sg:pub.10.1038/gim.2017.108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090829209
317 https://doi.org/10.1038/gim.2017.108
318 rdf:type schema:CreativeWork
319 sg:pub.10.1038/gim.2017.119 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090954238
320 https://doi.org/10.1038/gim.2017.119
321 rdf:type schema:CreativeWork
322 sg:pub.10.1038/gim.2017.41 schema:sameAs https://app.dimensions.ai/details/publication/pub.1086033981
323 https://doi.org/10.1038/gim.2017.41
324 rdf:type schema:CreativeWork
325 sg:pub.10.1038/gt.2017.29 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085060348
326 https://doi.org/10.1038/gt.2017.29
327 rdf:type schema:CreativeWork
328 sg:pub.10.1038/nature13394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052525502
329 https://doi.org/10.1038/nature13394
330 rdf:type schema:CreativeWork
331 sg:pub.10.1038/ncomms10207 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047847576
332 https://doi.org/10.1038/ncomms10207
333 rdf:type schema:CreativeWork
334 sg:pub.10.1038/ncomms15824 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085983509
335 https://doi.org/10.1038/ncomms15824
336 rdf:type schema:CreativeWork
337 sg:pub.10.1038/ng.3304 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037396981
338 https://doi.org/10.1038/ng.3304
339 rdf:type schema:CreativeWork
340 sg:pub.10.1038/ng.3578 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052576892
341 https://doi.org/10.1038/ng.3578
342 rdf:type schema:CreativeWork
343 sg:pub.10.1038/ng.3809 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084129149
344 https://doi.org/10.1038/ng.3809
345 rdf:type schema:CreativeWork
346 sg:pub.10.1038/nm1115-1242 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044063603
347 https://doi.org/10.1038/nm1115-1242
348 rdf:type schema:CreativeWork
349 sg:pub.10.1038/nm1366 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051162405
350 https://doi.org/10.1038/nm1366
351 rdf:type schema:CreativeWork
352 sg:pub.10.1038/npjgenmed.2015.12 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015288397
353 https://doi.org/10.1038/npjgenmed.2015.12
354 rdf:type schema:CreativeWork
355 sg:pub.10.1038/nrendo.2016.90 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028019216
356 https://doi.org/10.1038/nrendo.2016.90
357 rdf:type schema:CreativeWork
358 sg:pub.10.1038/nrg.2016.49 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033123702
359 https://doi.org/10.1038/nrg.2016.49
360 rdf:type schema:CreativeWork
361 sg:pub.10.1038/srep38803 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036152741
362 https://doi.org/10.1038/srep38803
363 rdf:type schema:CreativeWork
364 sg:pub.10.1097/gim.0b013e3182141b48 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030613086
365 https://doi.org/10.1097/gim.0b013e3182141b48
366 rdf:type schema:CreativeWork
367 sg:pub.10.1186/1750-1172-7-47 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037362210
368 https://doi.org/10.1186/1750-1172-7-47
369 rdf:type schema:CreativeWork
370 sg:pub.10.1186/s12920-015-0108-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1040439078
371 https://doi.org/10.1186/s12920-015-0108-y
372 rdf:type schema:CreativeWork
373 sg:pub.10.1186/s12920-017-0247-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083854013
374 https://doi.org/10.1186/s12920-017-0247-4
375 rdf:type schema:CreativeWork
376 sg:pub.10.1186/s13023-014-0141-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033234736
377 https://doi.org/10.1186/s13023-014-0141-5
378 rdf:type schema:CreativeWork
379 sg:pub.10.1186/s13023-014-0197-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032738311
380 https://doi.org/10.1186/s13023-014-0197-2
381 rdf:type schema:CreativeWork
382 sg:pub.10.1186/s13023-015-0243-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042231210
383 https://doi.org/10.1186/s13023-015-0243-8
384 rdf:type schema:CreativeWork
385 sg:pub.10.1186/s13023-017-0584-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083746235
386 https://doi.org/10.1186/s13023-017-0584-6
387 rdf:type schema:CreativeWork
388 sg:pub.10.1186/s13063-017-2287-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092908199
389 https://doi.org/10.1186/s13063-017-2287-7
390 rdf:type schema:CreativeWork
391 sg:pub.10.1186/s13072-017-0118-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084252237
392 https://doi.org/10.1186/s13072-017-0118-4
393 rdf:type schema:CreativeWork
394 sg:pub.10.1186/s13073-017-0412-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084252244
395 https://doi.org/10.1186/s13073-017-0412-6
396 rdf:type schema:CreativeWork
397 sg:pub.10.1186/s13148-016-0254-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1033897112
398 https://doi.org/10.1186/s13148-016-0254-x
399 rdf:type schema:CreativeWork
400 https://app.dimensions.ai/details/publication/pub.1075296050 schema:CreativeWork
401 https://app.dimensions.ai/details/publication/pub.1082609121 schema:CreativeWork
402 https://doi.org/10.1001/jama.2014.14601 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035740594
403 rdf:type schema:CreativeWork
404 https://doi.org/10.1001/jama.2014.14604 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011799003
405 rdf:type schema:CreativeWork
406 https://doi.org/10.1001/jamapsychiatry.2016.3798 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007577140
407 rdf:type schema:CreativeWork
408 https://doi.org/10.1002/acn3.203 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033264489
409 rdf:type schema:CreativeWork
410 https://doi.org/10.1002/ajmg.a.38198 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084007812
411 rdf:type schema:CreativeWork
412 https://doi.org/10.1002/ana.23963 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036361732
413 rdf:type schema:CreativeWork
414 https://doi.org/10.1002/biot.201100306 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024058968
415 rdf:type schema:CreativeWork
416 https://doi.org/10.1002/humu.22848 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038574852
417 rdf:type schema:CreativeWork
418 https://doi.org/10.1002/humu.22850 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021864880
419 rdf:type schema:CreativeWork
420 https://doi.org/10.1002/humu.22858 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020622625
421 rdf:type schema:CreativeWork
422 https://doi.org/10.1002/humu.23340 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091744182
423 rdf:type schema:CreativeWork
424 https://doi.org/10.1002/iub.336 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033799432
425 rdf:type schema:CreativeWork
426 https://doi.org/10.1016/j.aca.2017.04.038 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085062435
427 rdf:type schema:CreativeWork
428 https://doi.org/10.1016/j.ajhg.2014.01.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016608185
429 rdf:type schema:CreativeWork
430 https://doi.org/10.1016/j.ajhg.2016.03.016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003567775
431 rdf:type schema:CreativeWork
432 https://doi.org/10.1016/j.ajhg.2017.01.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1074220182
433 rdf:type schema:CreativeWork
434 https://doi.org/10.1016/j.ajhg.2017.04.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085175044
435 rdf:type schema:CreativeWork
436 https://doi.org/10.1016/j.ajhg.2017.04.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085131248
437 rdf:type schema:CreativeWork
438 https://doi.org/10.1016/j.annepidem.2017.05.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085388524
439 rdf:type schema:CreativeWork
440 https://doi.org/10.1016/j.dhjo.2015.03.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036973556
441 rdf:type schema:CreativeWork
442 https://doi.org/10.1016/j.mayocp.2016.08.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004495299
443 rdf:type schema:CreativeWork
444 https://doi.org/10.1016/j.mito.2018.01.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100167987
445 rdf:type schema:CreativeWork
446 https://doi.org/10.1016/j.pediatrneurol.2016.09.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003665414
447 rdf:type schema:CreativeWork
448 https://doi.org/10.1016/j.ymgme.2011.11.191 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050619565
449 rdf:type schema:CreativeWork
450 https://doi.org/10.1016/j.ymgme.2014.01.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022834924
451 rdf:type schema:CreativeWork
452 https://doi.org/10.1016/j.ymgme.2015.05.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006812763
453 rdf:type schema:CreativeWork
454 https://doi.org/10.1016/j.ymgme.2015.11.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003141783
455 rdf:type schema:CreativeWork
456 https://doi.org/10.1016/j.ymgme.2016.03.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010331875
457 rdf:type schema:CreativeWork
458 https://doi.org/10.1016/j.ymgme.2017.06.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090316620
459 rdf:type schema:CreativeWork
460 https://doi.org/10.1055/s-0034-1399755 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057332165
461 rdf:type schema:CreativeWork
462 https://doi.org/10.1056/nejmoa1515792 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020152170
463 rdf:type schema:CreativeWork
464 https://doi.org/10.1056/nejmoa1516767 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017038770
465 rdf:type schema:CreativeWork
466 https://doi.org/10.1067/mpd.2002.122394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045479211
467 rdf:type schema:CreativeWork
468 https://doi.org/10.1073/pnas.1418631112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052091004
469 rdf:type schema:CreativeWork
470 https://doi.org/10.1080/14737159.2017.1293527 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083778597
471 rdf:type schema:CreativeWork
472 https://doi.org/10.1093/brain/awt012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024755740
473 rdf:type schema:CreativeWork
474 https://doi.org/10.1093/brain/aww221 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019443080
475 rdf:type schema:CreativeWork
476 https://doi.org/10.1093/brain/aww300 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059445293
477 rdf:type schema:CreativeWork
478 https://doi.org/10.1093/hmg/dds123 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052763729
479 rdf:type schema:CreativeWork
480 https://doi.org/10.1093/hmg/ddu218 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002493697
481 rdf:type schema:CreativeWork
482 https://doi.org/10.1093/nar/gks1065 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044604503
483 rdf:type schema:CreativeWork
484 https://doi.org/10.1093/nar/gku1205 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001175538
485 rdf:type schema:CreativeWork
486 https://doi.org/10.1111/j.1469-8749.2012.04347.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1019269867
487 rdf:type schema:CreativeWork
488 https://doi.org/10.1111/joim.12412 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026688583
489 rdf:type schema:CreativeWork
490 https://doi.org/10.1126/scitranslmed.aal5209 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084959774
491 rdf:type schema:CreativeWork
492 https://doi.org/10.1136/adc.2005.091637 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038454402
493 rdf:type schema:CreativeWork
494 https://doi.org/10.1371/journal.pmed.0030208 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000570196
495 rdf:type schema:CreativeWork
496 https://doi.org/10.1371/journal.pone.0156359 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041761915
497 rdf:type schema:CreativeWork
498 https://doi.org/10.1515/bchm2.1934.227.1-4.169 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047910113
499 rdf:type schema:CreativeWork
500 https://doi.org/10.1534/genetics.117.203067 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091613464
501 rdf:type schema:CreativeWork
502 https://doi.org/10.1542/peds.105.1.89 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067820370
503 rdf:type schema:CreativeWork
504 https://doi.org/10.1542/peds.105.1.e10 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067820372
505 rdf:type schema:CreativeWork
506 https://doi.org/10.1586/14737159.2015.976555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028577804
507 rdf:type schema:CreativeWork
508 https://doi.org/10.1967/s0024499100110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1078870388
509 rdf:type schema:CreativeWork
510 https://doi.org/10.3233/jnd-159900 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052841436
511 rdf:type schema:CreativeWork
512 https://doi.org/10.3390/ijms17091555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028490605
513 rdf:type schema:CreativeWork
514 https://doi.org/10.5858/arpa.2013-0625-oa schema:sameAs https://app.dimensions.ai/details/publication/pub.1007686399
515 rdf:type schema:CreativeWork
516 https://www.grid.ac/institutes/grid.10392.39 schema:alternateName University of Tübingen
517 schema:name Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany
518 rdf:type schema:Organization
519 https://www.grid.ac/institutes/grid.10417.33 schema:alternateName Radboud University Nijmegen Medical Centre
520 schema:name Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands
521 rdf:type schema:Organization
522 https://www.grid.ac/institutes/grid.16872.3a schema:alternateName VU University Medical Center
523 schema:name Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
524 rdf:type schema:Organization
525 https://www.grid.ac/institutes/grid.17091.3e schema:alternateName University of British Columbia
526 schema:name Departments of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children’s Research Institute, Vancouver, BC, Canada
527 Departments of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children’s Research Institute, University of British Columbia, Vancouver, BC, Canada
528 rdf:type schema:Organization
529 https://www.grid.ac/institutes/grid.22072.35 schema:alternateName University of Calgary
530 schema:name Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, CA, Canada
531 Departments of Biochemistry, Molecular Biology, and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, CA, Canada
532 Departments of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children’s Research Institute, Vancouver, BC, Canada
533 Departments of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children’s Research Institute, University of British Columbia, Vancouver, BC, Canada
534 rdf:type schema:Organization
535 https://www.grid.ac/institutes/grid.280128.1 schema:alternateName National Human Genome Research Institute
536 schema:name National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
537 rdf:type schema:Organization
538 https://www.grid.ac/institutes/grid.5650.6 schema:alternateName Academic Medical Center
539 schema:name Deparment of Pediatrics (Room H7-224), Emma Children’s Hospital, Academic Medical Centre, Meibergdreef 9, 1105, Amsterdam, AZ, The Netherlands
540 Department of Endocrinology and Metabolism, Academic Medical Centre, Amsterdam, The Netherlands
541 Department of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
542 Departments of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children’s Research Institute, University of British Columbia, Vancouver, BC, Canada
543 Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Laboratory Division & Department of Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands
544 rdf:type schema:Organization
545 https://www.grid.ac/institutes/grid.6936.a schema:alternateName Technical University Munich
546 schema:name Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria
547 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
548 Institute of Human Genetics, Technische Universität München, Munich, Germany
549 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...