Mark F Leppert


Ontology type: schema:Person     


Person Info

NAME

Mark F

SURNAME

Leppert

Publications in SciGraph latest 50 shown

  • 2018-03 Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI in INTERNATIONAL JOURNAL OF OBESITY
  • 2017-06 Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci in HUMAN GENETICS
  • 2017-04 Genome-wide analyses identify common variants associated with macular telangiectasia type 2 in NATURE GENETICS
  • 2014-12 Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population in MOLECULAR AUTISM
  • 2010-12 Carriers of Rare Missense Variants in IFIH1 Are Protected from Psoriasis in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2010-12 Variation in the checkpoint kinase 2 gene is associated with type 2 diabetes in multiple populations in ACTA DIABETOLOGICA
  • 2010-12 Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer in HEREDITARY CANCER IN CLINICAL PRACTICE
  • 2010-10 Genome-wide linkage in Utah autism pedigrees in MOLECULAR PSYCHIATRY
  • 2009-06 A high-density SNP genome-wide linkage scan in a large autism extended pedigree in MOLECULAR PSYCHIATRY
  • 2009-03 Further Genetic Evidence for Three Psoriasis-Risk Genes: ADAM33, CDKAL1, and PTPN22 in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2009 Mouse Models of Benign Familial Neonatal Convulsions (BFNC): Mutations in KCNQ (Kv7) Genes in ANIMAL MODELS OF EPILEPSY
  • 2008-10 Colonic Adenoma Risk in Familial Colorectal Cancer—A Study of Six Extended Kindreds in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2008-09 Detailed genetic characterization of the interleukin-23 receptor in psoriasis in GENES & IMMUNITY
  • 2008-03 Variants in the 5q31 cytokine gene cluster are associated with psoriasis in GENES & IMMUNITY
  • 2005-02 The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees in JOURNAL OF HUMAN GENETICS
  • 2004-11 Genome-wide linkage analysis replicates susceptibility locus for fasting plasma triglycerides: NHLBI Family Heart Study in HUMAN GENETICS
  • 2004-10 A longitudinal study of X-inactivation ratio in human females in HUMAN GENETICS
  • 2004-07 SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex in IMMUNOGENETICS
  • 2003-05 Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p in HUMAN GENETICS
  • 2002-12-01 Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript in JOURNAL OF HUMAN GENETICS
  • 2002-09 A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study in HUMAN GENETICS
  • 2000-09 The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect in HUMAN GENETICS
  • 2000-01 Western diet, family history of colorectal cancer, NAT2, GSTM-1 and risk of colon cancer in CANCER CAUSES & CONTROL
  • 1999-11 The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect in HUMAN GENETICS
  • 1998-12 Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps in NATURE GENETICS
  • 1998-11 Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1998-01 A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family in NATURE GENETICS
  • 1998-01 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns in NATURE GENETICS
  • 1997-09 Corrigendum: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy in NATURE GENETICS
  • 1997-03 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy in NATURE GENETICS
  • 1995-06 Genetic mapping of adrenergic receptor genes in humans in JOURNAL OF MOLECULAR MEDICINE
  • 1995-05 Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p in NATURE GENETICS
  • 1994-05 Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous in NATURE GENETICS
  • 1993-09 Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome in NATURE GENETICS
  • 1992 Genetic Analysis of Ion Transport in MODERN TRENDS IN HUMAN LEUKEMIA IX
  • 1991 Identification of Cystic Fibrosis Mutations in THE IDENTIFICATION OF THE CF (CYSTIC FIBROSIS) GENE
  • 1990-11 R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1) in HUMAN GENETICS
  • 1990-04 Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3 in NATURE
  • 1990 Eldon Gardner Memorial Lecture: Genetic Mapping and Allelic Heterogeneity of the Familial Polyposis Gene in HEREDITARY COLORECTAL CANCER
  • 1989-12 Human type II collagen gene (COL2A1) assigned to chromosome 12q13.1-q13.2 byin situ hybridization with biotinylated DNA probe in JOURNAL OF HUMAN GENETICS
  • 1989-02 Benign familial neonatal convulsions linked to genetic markers on chromosome 20 in NATURE
  • 1988-12 Localization of an ataxia-telangiectasia gene to chromosome 11q22–23 in NATURE
  • 1987-05 A hypervariable region at the D19S11 locus in HUMAN GENETICS
  • 1987-04 HETEROGENEITY IN X-LINKED SPASTIC PARAPLEGIA in PEDIATRIC RESEARCH
  • 1986-01 A closely linked genetic marker for cystic fibrosis in NATURE
  • 1986-01 Tetraploid partial hydatidiform moles: two cases with a triple paternal contribution and a 92,XXXY karyotype in HUMAN GENETICS
  • 1985-11 A closely linked genetic marker for cystic fibrosis in NATURE
  • 1985-01 Construction of linkage maps with DNA markers for human chromosomes in NATURE
  • 1984 High resolution linkage map of human chromosome 11p in CHROMOSOMES TODAY
  • 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": "https://www.grid.ac/institutes/grid.223827.e", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.418021.e", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.413575.1", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.413561.4", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.417538.c", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.17635.36", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.414583.f", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.5386.8", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.39382.33", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.4367.6", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.241167.7", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.189504.1", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.10417.33", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.280030.9", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.415502.7", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.412584.e", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.5645.2", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.470125.5", 
            "type": "Organization"
          }
        ], 
        "familyName": "Leppert", 
        "givenName": "Mark F", 
        "id": "sg:person.012764304524.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012764304524.46"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T14:23", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_2142.json", 
        "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.012764304524.46'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.012764304524.46'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.012764304524.46'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.012764304524.46'


     

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

    50 TRIPLES      10 PREDICATES      28 URIs      7 LITERALS      2 BLANK NODES

    Subject Predicate Object
    1 sg:person.012764304524.46 schema:affiliation N2c47eecc29d44bbab0296b0a3074a783
    2 https://www.grid.ac/institutes/grid.10417.33
    3 https://www.grid.ac/institutes/grid.17635.36
    4 https://www.grid.ac/institutes/grid.189504.1
    5 https://www.grid.ac/institutes/grid.241167.7
    6 https://www.grid.ac/institutes/grid.280030.9
    7 https://www.grid.ac/institutes/grid.39382.33
    8 https://www.grid.ac/institutes/grid.412584.e
    9 https://www.grid.ac/institutes/grid.413561.4
    10 https://www.grid.ac/institutes/grid.413575.1
    11 https://www.grid.ac/institutes/grid.414583.f
    12 https://www.grid.ac/institutes/grid.415502.7
    13 https://www.grid.ac/institutes/grid.417538.c
    14 https://www.grid.ac/institutes/grid.418021.e
    15 https://www.grid.ac/institutes/grid.4367.6
    16 https://www.grid.ac/institutes/grid.470125.5
    17 https://www.grid.ac/institutes/grid.5386.8
    18 https://www.grid.ac/institutes/grid.5645.2
    19 schema:familyName Leppert
    20 schema:givenName Mark F
    21 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012764304524.46
    22 schema:sdDatePublished 2019-03-07T14:23
    23 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    24 schema:sdPublisher N80468fba8b9a4ba88b35915b5e7e44d5
    25 sgo:license sg:explorer/license/
    26 sgo:sdDataset persons
    27 rdf:type schema:Person
    28 N2c47eecc29d44bbab0296b0a3074a783 schema:affiliation https://www.grid.ac/institutes/grid.223827.e
    29 sgo:isCurrent true
    30 rdf:type schema:OrganizationRole
    31 N80468fba8b9a4ba88b35915b5e7e44d5 schema:name Springer Nature - SN SciGraph project
    32 rdf:type schema:Organization
    33 https://www.grid.ac/institutes/grid.10417.33 schema:Organization
    34 https://www.grid.ac/institutes/grid.17635.36 schema:Organization
    35 https://www.grid.ac/institutes/grid.189504.1 schema:Organization
    36 https://www.grid.ac/institutes/grid.223827.e schema:Organization
    37 https://www.grid.ac/institutes/grid.241167.7 schema:Organization
    38 https://www.grid.ac/institutes/grid.280030.9 schema:Organization
    39 https://www.grid.ac/institutes/grid.39382.33 schema:Organization
    40 https://www.grid.ac/institutes/grid.412584.e schema:Organization
    41 https://www.grid.ac/institutes/grid.413561.4 schema:Organization
    42 https://www.grid.ac/institutes/grid.413575.1 schema:Organization
    43 https://www.grid.ac/institutes/grid.414583.f schema:Organization
    44 https://www.grid.ac/institutes/grid.415502.7 schema:Organization
    45 https://www.grid.ac/institutes/grid.417538.c schema:Organization
    46 https://www.grid.ac/institutes/grid.418021.e schema:Organization
    47 https://www.grid.ac/institutes/grid.4367.6 schema:Organization
    48 https://www.grid.ac/institutes/grid.470125.5 schema:Organization
    49 https://www.grid.ac/institutes/grid.5386.8 schema:Organization
    50 https://www.grid.ac/institutes/grid.5645.2 schema:Organization
     




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


    ...