Heather Christy Mefford


Ontology type: schema:Person     


Person Info

NAME

Heather Christy

SURNAME

Mefford

Publications in SciGraph latest 50 shown

  • 2021-07 Diagnostic Considerations in the Epilepsies—Testing Strategies, Test Type Advantages, and Limitations in NEUROTHERAPEUTICS
  • 2021-03-08 Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy in GENETICS IN MEDICINE
  • 2020-12-10 De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy in GENETICS IN MEDICINE
  • 2020-11-04 NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns in GENETICS IN MEDICINE
  • 2019-10-15 Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders in NATURE COMMUNICATIONS
  • 2019-07-12 AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders in NATURE COMMUNICATIONS
  • 2019-03-29 De novo and biallelic DEAF1 variants cause a phenotypic spectrum in GENETICS IN MEDICINE
  • 2017-12-05 A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-10-24 Prospective investigation of FOXP1 syndrome in MOLECULAR AUTISM
  • 2017-10-05 Clinical phenotype of ASD-associated DYRK1A haploinsufficiency in MOLECULAR AUTISM
  • 2016-06-29 Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01-13 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-08-25 Advancing epilepsy genetics in the genomic era in GENOME MEDICINE
  • 2015-06-11 Clinical phenotype of the recurrent 1q21.1 copy-number variant in GENETICS IN MEDICINE
  • 2015-02-24 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID in MOLECULAR PSYCHIATRY
  • 2014-09-14 Refining analyses of copy number variation identifies specific genes associated with developmental delay in NATURE GENETICS
  • 2014-08-12 Beyond the single nucleotide variant in epilepsy genetics in NATURE REVIEWS NEUROLOGY
  • 2014-06-28 CNVs in Epilepsy in CURRENT GENETIC MEDICINE REPORTS
  • 2013-10-03 SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) in MOLECULAR AUTISM
  • 2013-08-11 GRIN2A mutations cause epilepsy-aphasia spectrum disorders in NATURE GENETICS
  • 2013-08-11 De novo mutations in the classic epileptic encephalopathies in NATURE
  • 2013-05-26 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 in NATURE GENETICS
  • 2011-07-02 Detection of Copy Number Variation Using SNP Genotyping in HUMAN PLURIPOTENT STEM CELLS
  • 2010-12-15 Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele) in FLUIDS AND BARRIERS OF THE CNS
  • 2010-10-05 Genetically complex epilepsies, copy number variants and syndrome constellations in GENOME MEDICINE
  • 2010-08-15 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome in NATURE GENETICS
  • 2010-02-14 A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay in NATURE GENETICS
  • 2009-01-11 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy in NATURE GENETICS
  • 2008-02-17 A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures in NATURE GENETICS
  • 2002-02 The complex structure and dynamic evolution of human subtelomeres in NATURE REVIEWS GENETICS
  • 1997-06 Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping in HUMAN GENETICS
  • 1996-11 Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients in HUMAN GENETICS
  • 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", 
        "affiliation": [
          {
            "affiliation": {
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.1003.2", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.7400.3", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.5252.0", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.266102.1", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.29980.3a", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.8404.8", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.461862.f", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.83440.3b", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.5254.6", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.270240.3", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.411472.5", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.240741.4", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.418025.a", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.1013.3", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.416107.5", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.7692.a", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.10939.32", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.433814.9", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.63984.30", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.410678.c", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.413973.b", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.413852.9", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.1008.9", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.4973.9", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.411580.9", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.10306.34", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.12136.37", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.507913.9", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.414054.0", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.413972.a", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.428620.a", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.412468.d", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.412341.1", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.240871.8", 
            "type": "Organization"
          }
        ], 
        "familyName": "Mefford", 
        "givenName": "Heather Christy", 
        "id": "sg:person.0655617372.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0655617372.21"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2022-01-01T19:58", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/person/person_876.jsonl", 
        "type": "Person"
      }
    ]
     

    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/person.0655617372.21'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.0655617372.21'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.0655617372.21'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.0655617372.21'


     

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

    84 TRIPLES      10 PREDICATES      45 URIs      7 LITERALS      2 BLANK NODES

    Subject Predicate Object
    1 sg:person.0655617372.21 schema:affiliation Nba0dba719365442f9c6d341849782081
    2 grid-institutes:grid.1003.2
    3 grid-institutes:grid.1008.9
    4 grid-institutes:grid.1013.3
    5 grid-institutes:grid.10306.34
    6 grid-institutes:grid.10939.32
    7 grid-institutes:grid.12136.37
    8 grid-institutes:grid.240741.4
    9 grid-institutes:grid.240871.8
    10 grid-institutes:grid.266102.1
    11 grid-institutes:grid.270240.3
    12 grid-institutes:grid.29980.3a
    13 grid-institutes:grid.410678.c
    14 grid-institutes:grid.411472.5
    15 grid-institutes:grid.411580.9
    16 grid-institutes:grid.412341.1
    17 grid-institutes:grid.412468.d
    18 grid-institutes:grid.413852.9
    19 grid-institutes:grid.413972.a
    20 grid-institutes:grid.413973.b
    21 grid-institutes:grid.414054.0
    22 grid-institutes:grid.416107.5
    23 grid-institutes:grid.418025.a
    24 grid-institutes:grid.428620.a
    25 grid-institutes:grid.433814.9
    26 grid-institutes:grid.461862.f
    27 grid-institutes:grid.4973.9
    28 grid-institutes:grid.507913.9
    29 grid-institutes:grid.5252.0
    30 grid-institutes:grid.5254.6
    31 grid-institutes:grid.63984.30
    32 grid-institutes:grid.7400.3
    33 grid-institutes:grid.7692.a
    34 grid-institutes:grid.83440.3b
    35 grid-institutes:grid.8404.8
    36 schema:familyName Mefford
    37 schema:givenName Heather Christy
    38 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0655617372.21
    39 schema:sdDatePublished 2022-01-01T19:58
    40 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    41 schema:sdPublisher N594cc6ad152449afbf1536861259c184
    42 sgo:license sg:explorer/license/
    43 sgo:sdDataset persons
    44 rdf:type schema:Person
    45 N594cc6ad152449afbf1536861259c184 schema:name Springer Nature - SN SciGraph project
    46 rdf:type schema:Organization
    47 Nba0dba719365442f9c6d341849782081 schema:affiliation grid-institutes:grid.34477.33
    48 sgo:isCurrent true
    49 rdf:type schema:OrganizationRole
    50 grid-institutes:grid.1003.2 schema:Organization
    51 grid-institutes:grid.1008.9 schema:Organization
    52 grid-institutes:grid.1013.3 schema:Organization
    53 grid-institutes:grid.10306.34 schema:Organization
    54 grid-institutes:grid.10939.32 schema:Organization
    55 grid-institutes:grid.12136.37 schema:Organization
    56 grid-institutes:grid.240741.4 schema:Organization
    57 grid-institutes:grid.240871.8 schema:Organization
    58 grid-institutes:grid.266102.1 schema:Organization
    59 grid-institutes:grid.270240.3 schema:Organization
    60 grid-institutes:grid.29980.3a schema:Organization
    61 grid-institutes:grid.34477.33 schema:Organization
    62 grid-institutes:grid.410678.c schema:Organization
    63 grid-institutes:grid.411472.5 schema:Organization
    64 grid-institutes:grid.411580.9 schema:Organization
    65 grid-institutes:grid.412341.1 schema:Organization
    66 grid-institutes:grid.412468.d schema:Organization
    67 grid-institutes:grid.413852.9 schema:Organization
    68 grid-institutes:grid.413972.a schema:Organization
    69 grid-institutes:grid.413973.b schema:Organization
    70 grid-institutes:grid.414054.0 schema:Organization
    71 grid-institutes:grid.416107.5 schema:Organization
    72 grid-institutes:grid.418025.a schema:Organization
    73 grid-institutes:grid.428620.a schema:Organization
    74 grid-institutes:grid.433814.9 schema:Organization
    75 grid-institutes:grid.461862.f schema:Organization
    76 grid-institutes:grid.4973.9 schema:Organization
    77 grid-institutes:grid.507913.9 schema:Organization
    78 grid-institutes:grid.5252.0 schema:Organization
    79 grid-institutes:grid.5254.6 schema:Organization
    80 grid-institutes:grid.63984.30 schema:Organization
    81 grid-institutes:grid.7400.3 schema:Organization
    82 grid-institutes:grid.7692.a schema:Organization
    83 grid-institutes:grid.83440.3b schema:Organization
    84 grid-institutes:grid.8404.8 schema:Organization
     




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


    ...