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Human genetics

961 studies23 in 7 days555 in 30 days

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961 studies

  1. Clinical utility of prenatal exome sequencing after normal chromosomal microarray in fetuses with structural anomalies
    M. Perriere, W. Darwiche, K. Messaoudi +8
    MorphologiePeer-reviewedCC BY-NC-NDFull textHuman geneticsObstetrics, gynaecology & paediatricsHAL
  2. M2 type tumor-associated macrophage-derived CCL-18 promotes glioma cell proliferation but does not mediates glioma recurrence after radiotherapy
    Jiangpeng Fan, Yufei Mao, Li Liu +7
    ISciencePeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMCCrossref
  3. A biopsy-validated study of combined DL-upscaled MRSI and (18F)-FACBC PET for presurgical glioma diagnosis
    Erin Beate Bjørkeli, Anna Maria Karlberg, Benedikte Emilie Vindstad +5
    Frontiers in oncologyPeer-reviewedCC BYFull textHuman geneticsEurope PMCCrossref
  4. A peri-tumoral TREM2-high myeloid state, myeloid continuum polarization, and white matter disconnection in long-term cognitive survivorship after diffuse glioma: a neuroimmune-connectomic cohort study
    Zheng Zhang, Yanyu Qi
    Frontiers in immunologyPeer-reviewedCC BYFull textHuman geneticsEurope PMCCrossref
  5. Stereotyped CLL-like immunoglobulin rearrangements in healthy repertoires: implications for leukemogenesis
    Davide Bagnara, Monica Colombo, Fabio Ghiotto +4
    Frontiers in immunologyPeer-reviewedCC BYFull textHuman geneticsEurope PMCCrossref
  6. Cytokine-induced killer cells combined with temozolomide suppress glioblastoma progression in an orthotopic model and demonstrate clinical feasibility in recurrent glioblastoma
    Young Kyu Park, Dong Won Yang, Kyun Woo Park +5
    Frontiers in neurologyPeer-reviewedCC BYFull textHuman geneticsEurope PMCCrossref
  7. High-grade gliomas where resources define survival: a systematic review and meta-analysis of outcomes, surgical access, and molecular diagnostic gaps in low- and middle-income countries
    Carlos Castillo Rangel, Gervith Reyes Soto, Edinson David Berrio Perea +12
    Frontiers in oncologyPeer-reviewedCC BYFull text1 citedHuman geneticsEurope PMCCrossref
  8. Pathogenicity assessment of a bicuspid aortic valve–associated ELASTIN variant using a zebrafish model
    Victor G. Bernard, Alexis Théron, Aurélien Drouard +4
    Frontiers in cardiovascular medicinePeer-reviewedCC BYFull textCardiovascular medicineHuman geneticsEurope PMCHALCrossref
  9. Aberrant Cluster of Differentiation (CD) Marker Expression Across B-cell Chronic Lymphoproliferative Disorder Subtypes: A Single-Center Flow Cytometry Study From Sri Lanka
    Thushara Balasuriya, Chamarika Moonesinghe, Neluka Fernando +3
    CureusPeer-reviewedCC BYFull textHuman geneticsEurope PMCEurope PMCPMC
  10. Immune Background Profiles Across B-cell Lymphoproliferative Disorders
    Thushara Balasuriya, Chamarika Moonesinghe, Neluka Fernando +3
    CureusPeer-reviewedCC BYFull textHuman geneticsEurope PMCEurope PMCPMC
  11. Rare Germline Variants and Genetic Susceptibility to Pleural Mesothelioma: Moving Beyond DNA Repair
    E. J. Herman, C. Debernardi, K. S. Hafeez +17
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  12. A KIAA0586 c.1815G>A Founder Allele Associated with Short-Rib Polydactyly Syndrome Type IV in Romani Families
    R. Kellermayer, M. Farooq, J. Bene +8
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  13. A rare-variant analysis of FADS-related metabolites in Major Depression
    L. Nisbet
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  14. Paracrine Signals from the Tumor Microenvironment Modulate Stem Cell Collagen Interaction and Remodeling, Indicating Early Functional Changes.
    Lora Topalova, Tanya Stoyanova, Nadia García-Parra +3
    CellsPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  15. High prevalence and immunophenotypic diversity of clonal T‑large granular lymphocytes in JAK2‑mutated myeloproliferative neoplasms.
    Weixia Zhuang, Lisha Lu, Li Jiang +2
    Annals of hematologyPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMCPMC
  16. PIM1 in myeloproliferative neoplasms: potential pathogenic and therapeutic implications
    Avik Dutta, Lilian Varricchio, Ronald Hoffman +1
    LeukemiaPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  17. Evolving clinical roles in the era of genomic medicine: Insights from rapid genome sequencing in the neonatal intensive care unit
    P. Taber, C. Solorzano, L. Weaver +7
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  18. Identifying genetic variants causal for multiple long-term conditions: informing opportunities for intervention and prevention
    B. Voller, R. M. Woodward, O. Murrin +15
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  19. Expanding clinical and variant spectrum of CBX1-related syndrome: Report of three novel cases
    G. Carrollo, S. Fujino, H. Higgs +14
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  20. H3K27M Mutation Modulates the Antigenic Landscape in Diffuse Midline Glioma.
    Tima Shamekhi, Bijun Zeng, Claire Xin Sun +17
    CancersPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  21. APOE Genotype and Fluid Biomarkers of Blood-Brain Barrier Integrity: A Systematic Review and Meta-Analysis
    W. Lucas, M. J. Murphy, N. Riddell
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  22. When platelets reach a million: insights from hematologists.
    Özge Sönmez, Ahmet Emre Eşkazan
    Annals of hematologyPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMCPMC
  23. Masked Triple-Negative Polycythemia Vera Initially Presenting as Iron Deficiency and Pernicious Anemia
    Oren G Nedjar, Ismael Palacio, David Israilov +6
    CureusPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  24. A proteome atlas of structural variation and VNTR effects on complex traits and diseases
    P. YUAN, W. BAI, J. HOU +1
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  25. Phenome-wide and proteomic analysis of APOE alleles across different ancestries in the All of Us Research Program
    A. Mejia Garcia, P. Valderrama-Carmona, T. M. Zheng +6
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv