Mark J Daly


Ontology type: schema:Person     


Person Info

NAME

Mark J

SURNAME

Daly

Publications in SciGraph latest 50 shown

  • 2019-03 A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment in NATURE NEUROSCIENCE
  • 2019-02 Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort in GENES & IMMUNITY
  • 2018-12 Host genetic variation and its microbiome interactions within the Human Microbiome Project in GENOME MEDICINE
  • 2018-12 Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study in NATURE COMMUNICATIONS
  • 2018-11-26 Reply to ‘Selective effects of heterozygous protein-truncating variants’ in NATURE GENETICS
  • 2018-08-14 Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation in MOLECULAR PSYCHIATRY
  • 2018-05 An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder in NATURE GENETICS
  • 2018-02 ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties in MOLECULAR PSYCHIATRY
  • 2018-01 The iPSYCH2012 case–cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders in MOLECULAR PSYCHIATRY
  • 2018-01 Principles and methods of in-silico prioritization of non-coding regulatory variants in HUMAN GENETICS
  • 2017-12 Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection in SCIENTIFIC REPORTS
  • 2017-12 Mosaic mutations in blood DNA sequence are associated with solid tumor cancers in NPJ GENOMIC MEDICINE
  • 2017-09 Discovery of stimulation-responsive immune enhancers with CRISPR activation in NATURE
  • 2017-07 Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders in NATURE GENETICS
  • 2017-07 Fine-mapping inflammatory bowel disease loci to single-variant resolution in NATURE
  • 2017-05 Estimating the selective effects of heterozygous protein-truncating variants from human exome data in NATURE GENETICS
  • 2017-04-25 Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability in MOLECULAR PSYCHIATRY
  • 2017-04-12 Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity in NATURE
  • 2017-04 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples in NATURE GENETICS
  • 2017-04 Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-02 A framework for the detection of de novo mutations in family-based sequencing data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-11 Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD in SCIENTIFIC REPORTS
  • 2016-10-31 Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects in NATURE COMMUNICATIONS
  • 2016-10 Patterns of genic intolerance of rare copy number variation in 59,898 human exomes in NATURE GENETICS
  • 2016-10 Association between polygenic risk for schizophrenia, neurocognition and social cognition across development in TRANSLATIONAL PSYCHIATRY
  • 2016-08 Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2016-06 Phenotypic extremes in rare variant study designs in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-05 Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population in NATURE GENETICS
  • 2016-02 Schizophrenia risk from complex variation of complement component 4 in NATURE
  • 2016-01 Abundant contribution of short tandem repeats to gene expression variation in humans in NATURE GENETICS
  • 2015-12 Androgen-sensitive hypertension associated with soluble guanylate cyclase alpha1 deficiency is mediated by 20-HETE in BMC PHARMACOLOGY AND TOXICOLOGY
  • 2015-11 Partitioning heritability by functional annotation using genome-wide association summary statistics in NATURE GENETICS
  • 2015-11 An atlas of genetic correlations across human diseases and traits in NATURE GENETICS
  • 2015-04 The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort in MOLECULAR PSYCHIATRY
  • 2015-03 LD Score regression distinguishes confounding from polygenicity in genome-wide association studies in NATURE GENETICS
  • 2015-02 Genetic and epigenetic fine mapping of causal autoimmune disease variants in NATURE
  • 2015-02 High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis in NATURE GENETICS
  • 2015-02 Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways in NATURE NEUROSCIENCE
  • 2014-12 Rare deleterious mutations of the gene EFR3A in autism spectrum disorders in MOLECULAR AUTISM
  • 2014-12 Complex host genetics influence the microbiome in inflammatory bowel disease in GENOME MEDICINE
  • 2014-11 Synaptic, transcriptional and chromatin genes disrupted in autism in NATURE
  • 2014-09 A framework for the interpretation of de novo mutation in human disease in NATURE GENETICS
  • 2014-08 Response to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis’ in MOLECULAR PSYCHIATRY
  • 2014-07 Biological insights from 108 schizophrenia-associated genetic loci in NATURE
  • 2013-12 Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder in MOLECULAR AUTISM
  • 2013-11 Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration in NATURE GENETICS
  • 2012-11 Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease in NATURE
  • 2012-08 Genetic architectures of psychiatric disorders: the emerging picture and its implications in NATURE REVIEWS GENETICS
  • 2012-06 Extremely low-coverage sequencing and imputation increases power for genome-wide association studies in NATURE GENETICS
  • 2012-04-04 Patterns and rates of exonic de novo mutations in autism spectrum disorders in NATURE
  • 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.66859.34", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.116068.8", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.4991.5", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.10306.34", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.17063.33", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.452494.a", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.189504.1", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.32224.35", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.10698.36", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.7737.4", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.452687.a", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.38142.3c", 
            "type": "Organization"
          }
        ], 
        "familyName": "Daly", 
        "givenName": "Mark J", 
        "id": "sg:person.011517303117.07", 
        "identifier": {
          "name": "orcid_id", 
          "type": "PropertyValue", 
          "value": [
            "0000-0002-0949-8752"
          ]
        }, 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011517303117.07", 
          "https://orcid.org/0000-0002-0949-8752"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T13:34", 
        "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_1363.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.011517303117.07'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.011517303117.07'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.011517303117.07'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.011517303117.07'


     

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

    43 TRIPLES      11 PREDICATES      24 URIs      8 LITERALS      3 BLANK NODES

    Subject Predicate Object
    1 sg:person.011517303117.07 schema:affiliation N35f594e0b1504589a3aee8d2c3e14bce
    2 https://www.grid.ac/institutes/grid.10306.34
    3 https://www.grid.ac/institutes/grid.10698.36
    4 https://www.grid.ac/institutes/grid.116068.8
    5 https://www.grid.ac/institutes/grid.17063.33
    6 https://www.grid.ac/institutes/grid.189504.1
    7 https://www.grid.ac/institutes/grid.32224.35
    8 https://www.grid.ac/institutes/grid.38142.3c
    9 https://www.grid.ac/institutes/grid.452494.a
    10 https://www.grid.ac/institutes/grid.452687.a
    11 https://www.grid.ac/institutes/grid.4991.5
    12 https://www.grid.ac/institutes/grid.7737.4
    13 schema:familyName Daly
    14 schema:givenName Mark J
    15 schema:identifier N726565ecba984a0ca0e3e95196b2c584
    16 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011517303117.07
    17 https://orcid.org/0000-0002-0949-8752
    18 schema:sdDatePublished 2019-03-07T13:34
    19 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    20 schema:sdPublisher N4a47b840247a47e09237f3ac5e9b5827
    21 sgo:license sg:explorer/license/
    22 sgo:sdDataset persons
    23 rdf:type schema:Person
    24 N35f594e0b1504589a3aee8d2c3e14bce schema:affiliation https://www.grid.ac/institutes/grid.66859.34
    25 sgo:isCurrent true
    26 rdf:type schema:OrganizationRole
    27 N4a47b840247a47e09237f3ac5e9b5827 schema:name Springer Nature - SN SciGraph project
    28 rdf:type schema:Organization
    29 N726565ecba984a0ca0e3e95196b2c584 schema:name orcid_id
    30 schema:value 0000-0002-0949-8752
    31 rdf:type schema:PropertyValue
    32 https://www.grid.ac/institutes/grid.10306.34 schema:Organization
    33 https://www.grid.ac/institutes/grid.10698.36 schema:Organization
    34 https://www.grid.ac/institutes/grid.116068.8 schema:Organization
    35 https://www.grid.ac/institutes/grid.17063.33 schema:Organization
    36 https://www.grid.ac/institutes/grid.189504.1 schema:Organization
    37 https://www.grid.ac/institutes/grid.32224.35 schema:Organization
    38 https://www.grid.ac/institutes/grid.38142.3c schema:Organization
    39 https://www.grid.ac/institutes/grid.452494.a schema:Organization
    40 https://www.grid.ac/institutes/grid.452687.a schema:Organization
    41 https://www.grid.ac/institutes/grid.4991.5 schema:Organization
    42 https://www.grid.ac/institutes/grid.66859.34 schema:Organization
    43 https://www.grid.ac/institutes/grid.7737.4 schema:Organization
     




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


    ...