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Human genetics

961 studies23 in 7 days555 in 30 days

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961 studies

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  1. Characterization of Ataxia-linked MFN2 Variants Reveals a Lipid Droplet/Mitochondrial Axis Driving Ferroptosis
    M. Zaman, A. Mohan, C. Chute +3
    medRxivPreprintCC BY-NCFull textHuman geneticsmedRxiv
  2. Characterization of Umbilical Cord Mesenchymal Stromal Cells Overexpressing Klotho and In Vitro Anti-Aging Efficacy of Their Derived Extracellular Vesicles
    Anyuan Zhang, Shan Wang, Jing Zhang +6
    International Journal of Molecular SciencesPeer-reviewedCC BY 4.0Human geneticsCrossref
  3. Orthopaedic Manifestations of Mucopolysaccharidosis.
    Chris Tremonti, Elle Bui, Klane K White +1
    Journal of the Pediatric Orthopaedic Society of North AmericaPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMC
  4. Impact of luspatercept in beta-thalassemia major with alloimmunization: A case report
    Fariha Fairouz, Supat Chamnanchanunt, Vipa Thanachartwet +2
    Therapeutic Advances in HematologyPeer-reviewedCC BY-NC 4.0Full textHuman geneticsPMCEurope PMC
  5. Quantifying the genetic separability of disease subtypes
    C. Ning, J. J. P. Hof, D. Speed
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  6. Proteogenomic analysis of pediatric and AYA high-grade glioma reveals age-dependent biology, female-male differences, and kinase targets
    Nicole L. Tignor, Mateusz Koptyra, Shrabanti Chowdhury +178
    Cell Reports MedicinePeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsPMC
  7. Genetic analyses of blood pressure traits in 140,000 admixed adults from Mexico City
    M. Turner, J. Berumen, S. Morris +27
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  8. Heritability and rare variant contributions to Alzheimer disease in the Midwestern Amish
    Y. Liu, Y. E. Song, W. Wang +27
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  9. CAST as a Tumor-Specific Suppressor in Colorectal Cancer: Discovery Through Integrative Analysis of Unannotated Isoforms, Proteomics, and Epigenetic Regulation
    A. Ebadi, M. Hashemi
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  10. LRRC8C is a potential diagnostic and prognostic biomarker associated with immune modulation in lower-grade glioma
    Leiming Zhang, Yujie Mu, Wenying Lv +2
    SAGE Open MedicinePeer-reviewedCC BY-NC 4.0Full textHuman geneticsPMCEurope PMC
  11. Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients
    E. Waldo, H. M. Chaparro-Solano, M. Isayan +35
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  12. Genetic Associations with Alzheimer's, Lewy Body and Vascular Neuropathology Reveal Shared and Distinct Biological Pathways
    K. Morgan, A. Thomas, K. J. Brookes
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  13. Association of polygenic risk scores with low-density lipoprotein cholesterol levels and control: findings from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)
    C. G. Hutten, T. Sofer, B. W. Spitzer +5
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  14. AlphaGenome Atlas: in silico mutagenesis of the entire human genome improves prioritization and interpretation of non-coding variants
    Lead authors:, Jun Cheng, Kyle R. Taylor +43
    medRxivPreprintCC BY-NCFull text12 citedHuman geneticsmedRxivOpenAlex
  15. Allele-Specific MicroRNA-Binding Variants at Colorectal Cancer Risk Loci in a Hispanic/Latino Population: An Integrative GWAS, All of Us, and Epigenomic Analysis
    S. S. Ahmad, M. Z. I. Khan, S. Roy
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  16. Transcriptomic and Machine-Learning Prioritization of OCEL1 in Low Bone Mineral Density With Multivariable cis-MR
    J. Yao, Q. Zhong
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  17. Multi-population genome-wide association meta-analysis of acute and chronic pancreatitis
    S. Khodursky, R. Judy, S. Abramowitz +2
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  18. Whole-Blood Transcriptome Profiling Revealed Gene Expression Signatures of Tourette Disorder
    S. Krishnamurthy, L. Sequeira, R. A. King +3
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  19. Identification and evaluation of 41 risk loci for juvenile idiopathic arthritis informs precision medicine: mechanistic implications of DNA topology and an HLA-A*02:01-ERAP2 interaction
    H. C. Ainsworth, E. S. Khvatkova, M. Sudman +25
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  20. The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum
    Laura van Dussen, Emilie V. Albers, Saskia N. van der Crabben +3
    PLOS OnePeer-reviewedCC BY 4.0Full textHuman geneticsPLOS
  21. Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease
    A. O'Donnell-Luria, S. DiTroia, M. C. OLeary +41
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  22. Unravelling the genetic basis of stuttering: GWAS meta-analysis highlights link with rare speech disorders
    V. E. Jackson, J. J. Shin, S. Horton +37
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  23. Genomic foundation model-derived disruption profiling links somatic mutations to cancer biology and clinical outcomes
    A. Nayak, T.-R. Lee, V. Agarwal +1
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  24. Lysosomal polygenic risk score in Parkinson's disease across populations.
    W. Sun, K. Brockmann, I. Wurster +8
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  25. Toward Population-Level Brain AVM Screening: Construction and Evaluation of a Two-Step Genetic Risk Model Incorporating Rare Mendelian Variants and a Novel Polygenic Risk Score
    P. D. Patel, S. R. Salwi, M. R. Gooch +6
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv