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Human genetics

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961 studies

  1. Founder alleles and clonal hematopoiesis, not missing diversity, confound variant interpretation in an underrepresented population
    M. El-Haddad, N. Hendi, G. Ghada El-Hajj Fuleihan +2
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  2. Metabolic landscape of inborn errors of metabolism
    M. Ni, L. Cai, H. S. Vu +28
    medRxivPreprintCC BYFull textHuman geneticsmedRxivPMC
  3. Sex and autism share cell type-specific effects on cortical gene expression
    G. Dugan, A. R. DeCasien, R. A. M. Ghoddousi +7
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  4. Adult IDH-wildtype glioblastoma in Mexico and Latin America: contemporary standards, emerging strategies, and an evidence-to-implementation roadmap
    Alejandro Rodríguez Camacho, Emmanuel Polito-Salazar, Ximena Blasco +25
    Frontiers in OncologyPeer-reviewedCC BY 4.0Full textHuman geneticsCrossrefDOAJ
  5. Surgical and survival outcomes of hemispheric low-grade glioma in Ethiopia: a multicenter retrospective cohort study
    Moti Belay Daba, Yemisirach Bizuneh Akililu
    Frontiers in OncologyPeer-reviewedCC BY 4.0Full textHuman geneticsCrossref
  6. Mapping Aptamer Prototypes to the Unmet Gaps of Glioblastoma Care: From Circulating Cells to the Resection Cavity
    Galina S. Zamay, Natalia A. Luzan, Anastasia A. Koshmanova +4
    CancersPeer-reviewedCC BY 4.0Human geneticsCrossref
  7. Neuroimmune communication: from CNS-resident cell networks to the glioblastoma microenvironment
    Yanfei Li, Qiuhong Zheng, Xianwu Wang +5
    Frontiers in ImmunologyPeer-reviewedCC BY 4.0Human geneticsCrossref
  8. A shared vascular-hypoxic transcriptional program is associated with immune organization in glioblastoma
    Kinga Jaskuła, Adrian Szczepaniak, Clara Kugler +1
    Frontiers in ImmunologyPeer-reviewedCC BY 4.0Full textHuman geneticsCrossref
  9. hiPSC Extract Attenuates Senescence-Associated Phenotypes in AB-MSCs In Vitro
    Yuanyuan Pan, Lumiao Zhang, Rongyuan Zhu +2
    CellsPeer-reviewedCC BY 4.0Human geneticsCrossref
  10. Cytomegalovirus Infection Is Associated with Accelerated Murine Glioblastoma Progression and Alterations in the Tumor Microenvironment
    Mykola Zdioruk, Eleni Panagioti, Noe B. Mercado +6
    CellsPeer-reviewedCC BY 4.0Human geneticsCrossref
  11. Zinc-Dependent Regulation of High-Molecular-Weight Kininogen and the Contact System: Implications for Inflammation, Thrombosis and Vascular Dysfunction
    Rida Khan, Jordan S. Marsh, Alan J. Stewart
    BiomoleculesPeer-reviewedCC BY 4.0Human geneticsCrossref
  12. Integrative Single-Cell and Radiomics Analyses Identify N-Acetylneuraminate Synthase (NANS)-High Signature Associated with Adverse Prognosis and Immune Remodeling in Glioblastoma
    Jianan Chen, Qiong Wu, Hannah M. Cardenas +6
    International Journal of Molecular SciencesPeer-reviewedCC BY 4.0Human geneticsCrossref
  13. Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk
    Olivier Quenez, Catherine Schramm, Kévin Cassinari +116
    American Journal of Human GeneticsPeer-reviewedCC BY 4.0Full text1 citedHuman geneticsHAL
  14. Identification of CRF-related molecular subtypes and a prognostic CRRS model in glioma: insights into immunotherapy response prediction and candidate biomarkers
    Jihao Xue, Jianguo Xu, Qijia Yin +1
    Scientific ReportsPeer-reviewedCC BY-NC-ND 4.0Human geneticsCrossref
  15. Fast probabilistic whitening transformation for ultra-high dimensional genetic data
    Gabriel E. Hoffman, Christian P. Dillard, Kiran Girdhar +1
    PLOS GeneticsPeer-reviewedCC0Full textHuman geneticsPLOSPMC
  16. Cost-effectiveness and cost-benefit analysis of the thalassaemia prevention programme in Guangdong, southern China.
    Li Bing, Wu Jing, Wang Xionghu +3
    Preventive medicine reportsPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMC
  17. Contrasting molecular and pharmacodynamic signatures of response and resistance to sequential bortezomib and temozolomide in recurrent IDH-wildtype glioblastoma and grade 4 IDH-mutant astrocytoma: an exploratory interim analysis of NCT03643549 phase IB/II trial
    Dorota Goplen, Mohummad Aminur Rahman, Jorunn Brekke +8
    Biomarker ResearchPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  18. Real-world treatment patterns, outcomes, and healthcare resource use for myelofibrosis in Brazil: Subgroup analysis of the METER study
    Fernanda Seguro, Ingrid Pereira, Maria Duran +1
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BY 4.0Full textHuman geneticsDOAJPMC
  19. Diagnostic evaluation of long-read nanopore sequencing for pediatric CNS tumors
    Sandra Ferreyra Vega, Ryan Shun-Yuen Kwan, Ida Rahmqvist +5
    Acta Neuropathologica CommunicationsPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  20. Phase Ia Evaluation of LP-184 in Recurrent Glioblastoma: Safety, Pharmacokinetics, and Translational Optimization of CNS Exposure
    Karisa C. Schreck, Bachchu Lal, Jianli Zhou +6
    Cancer Research CommunicationsPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  21. Indole analogs and the aryl sulfonamide AqB011 potently restrain the invasiveness of glioblastoma cells, as determined in ex vivo xenograft tissue slice co-cultures (XTCCs).
    Kim K Wagner, Andrea J Yool, Rohan A Davis +3
    Cancer cell internationalPeer-reviewedCC BYFull textHuman geneticsEurope PMCPMC
  22. Dynamics of IDH1 Mutation and Protein Expression Between Primary and Recurrent Gliomas and Their Prognostic Significance.
    Wei Yu, Siyu Guo, Beibei Liu +1
    Human mutationPeer-reviewedCC BYFull textHuman geneticsEurope PMCPMC
  23. Genetics in Context: Social Factors Modify Polygenic Risk Across Multiple Cardiometabolic Diseases
    Micah R. Hysong, Sarah Hsu, Farida Akhtari +15
    medRxivPreprintCC BY-NCFull textHuman geneticsmedRxivPMC
  24. Genetic axes of hand and shoulder soft-tissue disease and their divergent responses to adiposity and incretin therapy: a cross-biobank genomic and randomised trial study
    Z. Xu, J. Cheng, X. Chen +3
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  25. Genetic hallmarks of patients with congenital portosystemic shunts and portopulmonary hypertension: protocol for a multicentre exploratory study
    I. Schepens, F. van Steenbeek, F. Pont +5
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv