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Human genetics

961 studies23 in 7 days555 in 30 days

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961 studies

  1. Mapping polygenic risk scores to brain cells: insights for neurodegenerative diseases
    E. Simmonds, A. McKeever, U. Yaman +10
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  2. Genetic and Biological Pathways Underlying the Relations between Executive Functioning and Externalizing Behaviors
    K. M. Spychala, A. P. Miller, N. P. Friedman +1
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  3. The landscape of polygenic score prediction accuracy and transportability across the phenome in ancestrally diverse populations
    M. Lin, C. H. Arehart, S. N. K. Walker +14
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  4. Integrative Omics Analysis Reveals Functional Variants of Hemoglobin Zeta (HBZ) as an Ancestry-Specific Risk Factor for Triple-Negative Breast Cancer
    H. Le, A. M. Sakwe, A. Oliver +5
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  5. Decomposing polygenic risk of coronary artery disease into distinct biological processes
    J. Morze, K. Smith, M. Kierczak +12
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  6. Rare genetic variants influence participation in cognitive components of the UK Biobank
    E. Fenner, P. Holmans, M. C. O'Donovan +3
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  7. PTPN2/PTPN1 inhibition enhances ex vivo T- cell responses and potentiates mosunetuzumab activity in chronic lymphocytic leukemia
    Liron Yitzhak, Yamit Shorer Arbel, Yotam Bronstein +2
    Frontiers in ImmunologyPeer-reviewedCC BY 4.0Full textHuman geneticsCrossrefEurope PMC
  8. 18β-Glycyrrhetinic Acid Exerts Subgroup-Specific Antitumor Activity and Enhances Radiosensitivity in Medulloblastoma.
    Francesca Palone, Luca Marchetti, Marco Corso +5
    CancersPeer-reviewedCC BYFull textHuman geneticsEurope PMCCrossref
  9. CD13 expression in B cell malignancies is a hallmark of plasmacytic differentiation.
    Raimbault A, Machherndl-Spandl S, Itzykson R +10
    British Journal of HaematologyPeer-reviewedLicence not statedFull text19 citedHuman geneticsHAL
  10. A hierarchical approach in the diagnostic workflow of chronic myelomonocytic leukemia: Pivotal role of the "Mono-dysplasia-score" combined with flow cytometric quantification of monocyte subsets.
    Clauser S, Maillon A, Capron C +9
    International Journal of Laboratory HematologyPeer-reviewedCC BYFull text10 citedHuman geneticsHAL
  11. Elucidating shared genetic signals between type 2 diabetes and three neurodegenerative dementia phenotypes
    Ana Luiza Arruda, Archit Singh, Ozvan Bocher +3
    Human Genetics and Genomics AdvancesPeer-reviewedCC BY 4.0Full textHuman geneticsHAL
  12. From Refractory Iron Deficiency Anemia to the Diagnosis of Hereditary Hemorrhagic Telangiectasia Type 1: A Case Report.
    Mahendra Dhaka, Nidhi Nidhi, Arjun Kachhwaha +2
    CureusPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  13. Bromodomain and extra-terminal motif (BET) inhibition induces coordinated repression of the stem cell-related HOX signature in glioblastoma uncovering an epigenetic vulnerability
    Davide Chiesi, Pierre Bady, Mihalis V Xirouchakis +3
    Neuro-Oncology AdvancesPeer-reviewedCC BY-NC 4.0Full textHuman geneticsPMC
  14. Corticosteroid treatment modulates immune cell populations in the glioblastoma microenvironment
    Rune Just Clausen, Sofie Sorgenfri Hjerrild Nielsen, Julie Jacobsen +12
    Neuro-Oncology AdvancesPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  15. A standardized patient-derived glioblastoma organoid platform for evaluating radiotherapy efficacy and overcoming resistance
    Xin Wang, Yusha Sun, Prithvi Sinha +21
    Cell Reports MedicinePeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  16. IVA, a locally deployable Intelligent Variant Analyser based on a small language model for complete case-level and trio-based genomic interpretation.
    F. Santoni, E. Ducret, S. Oreshkov +7
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  17. Expression predictions inform molecular interpretation of Alzheimer's disease risk loci
    C. byung hyug, J. Jeong
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  18. THRESHER: A tool for evidence-based, phylogeny-corrected SNP thresholds for whole genome molecular epidemiology
    Q. She, A. Feder, E. Theiller +3
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  19. Case Report: Allogeneic adipose-derived mesenchymal stem cells for severe chronic kidney disease in a dog.
    Yu Yu, Xuemin Lv, Xinyuan Zhou +4
    Frontiers in veterinary sciencePeer-reviewedCC BYFull textHuman geneticsEurope PMC
  20. Targeting NOTCH-immune crosstalk in gliomas: from mechanisms to therapeutics.
    Safieh Ebrahimi, NoorMohammad Meshkinkhood, Ali Aliee +4
    Frontiers in oncologyPeer-reviewedCC BYFull textHuman geneticsEurope PMCCrossref
  21. Case Report: Durable, well-tolerated complete response to epcoritamab plus pirtobrutinib in Richter transformation relapsing after CD19 CAR T-cell therapy.
    Ahmed Salleh Barefah
    Frontiers in medicinePeer-reviewedCC BYFull textHuman geneticsEurope PMC
  22. A data-constrained survival stratification model for surgically managed glioblastoma across public and real-world cohorts.
    Lin Zeng, DingJun Li, Yun Liao +5
    Frontiers in oncologyPeer-reviewedCC BYFull textHuman geneticsEurope PMCCrossref
  23. Cohort-level proportions of low-grade glioma (WHO grades I-II) in mixed glioma cohorts: a single-arm meta-analysis for epidemiological benchmarking and clinical trial design.
    Shenao Zhang, Yawen Zheng, Yinjiao Wang +5
    Frontiers in oncologyPeer-reviewedCC BYFull textHuman geneticsEurope PMCCrossref
  24. Vascular habitat analysis using dynamic susceptibility contrast-enhanced perfusion MRI for differentiating glioblastoma from solitary brain metastases.
    Xuan Li, Hanwei Wang, Linlan Zeng +6
    Frontiers in oncologyPeer-reviewedCC BYFull textHuman geneticsEurope PMCCrossref
  25. Which Clinical, Radiological, Inflammatory, and Lesion-Related Characteristics Are Associated with Early Neurological Decompensation After Intracranial Mass Lesion Surgery?
    Fatma Betül Saylak, Burak Bahadır
    Diagnostics (Basel, Switzerland)Peer-reviewedCC BYFull textHuman geneticsEurope PMC