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    These filters represent the three primary types of content included in the PMC archive: 1) content published in a scholarly journal 2) peer-reviewed author manuscripts accepted for publication in a journal and 3) preprint versions of articles collected through the NIH Preprint Pilot, made public prior to peer review

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    The PMC Open Access Subset includes journal articles and preprints that are made available under license terms that allow reuse. Historical back issues refers to digitized content from print journals made available in PMC through the Biomedical Journal Digitization Projects.

16,762 results

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Embargoed Articles:

The embargo is the time during which the publisher retains exclusive rights to distribute articles. Those articles are made freely available on the PMC website after the embargo period has ended. Citations for articles under an embargo period will still display in the PMC results list by default. Choose “Exclude” to prevent embargoed articles from displaying in your results.

  • A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.
    Mok JW, et al.
    Am J Hum Genet. Author manuscript. 2026.
    PMCID: PMC13662929
  • Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.
    Thakur R, et al.
    Am J Hum Genet. Author manuscript. 2026.
    PMCID: PMC13641683
  • Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network.
    Li J, et al.
    Am J Hum Genet. Author manuscript. 2026.
    PMCID: PMC13636544
  • Systematic and proactive evaluation of AIRE missense variant effects.
    Axakova A, et al.
    Am J Hum Genet. Author manuscript. 2026.
    PMCID: PMC13635998
  • Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.
    Hiatt SM, et al.
    Am J Hum Genet. Author manuscript. 2026.
    PMCID: PMC13632940
  • Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traits.
    Sun X, et al.
    Am J Hum Genet. 2026.
    PMCID: PMC13049358
  • BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
    De Pace R, et al.
    Am J Hum Genet. 2026.
    PMCID: PMC13087471
  • Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.
    AlAbdi L, et al.
    Am J Hum Genet. 2026.
    PMCID: PMC13087460
  • Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study.
    Lawson LP, et al.
    Am J Hum Genet. 2026.
    PMCID: PMC13087454
  • Best practices for improving alignment and variant calling on human sex chromosomes.
    Taravella Oill AM, et al.
    Am J Hum Genet. 2026.
    PMCID: PMC13087457
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