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Human genetics

961 studies23 in 7 days555 in 30 days

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961 studies

  1. Genetic and multi-omic prioritization implicates the CD33-SIGLEC locus in post-traumatic stress disorder
    H. Liu, S. Xie, Z. Chen +1
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  2. Protocol for monitoring cytoplasmic Ca2+ dynamics using Fura Red-AM on a Zeiss Axio Observer microscope
    Sabrina Beaumier, Marc Bartoli
    STAR ProtocolsPeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsHAL
  3. Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy
    Mathieu Cerino, Chloé Di Meglio, Francesca Albertini +8
    Molecular Genetics & Genomic MedicinePeer-reviewedCC BY-NC-ND 4.0Full text4 citedHuman geneticsHAL
  4. Sex differences in glycine biosynthesis drives sex-specific responses to combined nutrient deprivation and pharmacological inhibition in brain tumors
    Camryn Marquez, Jianyun Lu, Kevin Cho +5
    Neuro-Oncology AdvancesPeer-reviewedCC BY-NC 4.0Full textHuman geneticsPMC
  5. Pathogenic Mitofusin 2 variants causing myopathy drive endosomal mtDNA release and inflammation
    M. Zaman, J. David, A. Mehrabi +8
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  6. Evaluating Diabetes Drug Targets for Vascular Dementia Prevention Using Drug Target Mendelian Randomisation
    A. Packer, L. Austin, D. M. Williams +2
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  7. Maternal immune gene expression trajectories and dynamic genetic regulation throughout pregnancy
    S. Hoffman, K. L. Burnham, E. Cook +5
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  8. ECC-MR: an error-correcting-code framework for robust Mendelian randomization and pleiotropy decoding on correlated instruments
    J. Jiang, D. Hu, Q. Zhang +11
    medRxivPreprintCC BY-NCFull textHuman geneticsmedRxiv
  9. A Generalizable, Governance-Embedded Pathway for Assessing Patient-Level Opportunities for Genetic Medicines
    D. Cheerie, A. Y. Pan, M. Acker +19
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  10. Usability and workflow implications of an electronic health record-integrated tool for automated phenotyping: Formative evaluation of Pheno+
    P. Taber, L. Weaver, T. Di Sera +14
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  11. Diagnostic Accuracy of Amino Acid PET for Differentiating Tumor Recurrence or Progression from Treatment-Related Changes in Glioma Patients: A Systematic Review and Meta-Analysis.
    Małgorzata Podstawka, Anna Dębska, Natalia Koc +8
    CancersPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  12. Disrupted Signalling Landscapes in Glioblastoma: Mechanistic Insights and Therapeutic Frontiers.
    Ammar Asif Ali Ansari, Natalia Haddad, Ana Maria Assed +7
    BiologyPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  13. Knowledge and Attitudes Towards Sickle Cell Disease Among Nurses in Resource-Limited Peri-Urban and Rural Settings in Ghana
    Mary Akua Ampomah, Samuel Kwasi Apedo, Shallom Fafali Apetorgbor +10
    SAGE Open NursingPeer-reviewedCC BY-NC 4.0Full textHuman geneticsPMC
  14. Prevalence and Pattern of Hemoglobinopathies Among Women of Reproductive Age Attending a Tertiary Care Center in Central Uttar Pradesh: A Prospective Observational Study.
    Hera Khan, Neena Gupta, Renu Gupta +4
    CureusPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  15. Genetic architecture of immune-mediated thrombotic thrombocytopenic purpura in Han Chinese individuals
    Z. Gan, X. Hao
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  16. Nuclear Genome Amplification of Antibody VDJ Regions in Wastewater
    D. M. CHIRMAN, J. R. Clark, S. Bel Rhali +2
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  17. Integrated genomic meta-analysis identifies cell-type-specific signatures and targets in early Alzheimer's disease
    M. Steinruecke, J. K. Baillie, Z. Jiwaji
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  18. CREBRF rs373863828 minimally regulates gene expression in subcutaneous adipose tissue of Samoan adults
    S. L. Manna, A. C. Rivara, A. T. Prescott +22
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  19. Polygenic effects on cortical size and ADHD converge on a mid-gestational progenitor-to-neuron transition programme
    Y. He, A. Ebneabbasi, K. Rademaker +28
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  20. ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 ( SCA48 / STUB1 )
    Charlotte Mouraux, Jean‐loup Méreaux, Claire‐sophie Davoine +9
    Movement DisordersPeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsHAL
  21. Correlation Between Serum Ferritin and Electrocardiographic and Echocardiographic Markers of Cardiac Dysfunction in Children With Transfusion-Dependent β-Thalassemia Major.
    Vipin Kasaudhan, Vijay K Singh, Bhoopendra Sharma +3
    CureusPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  22. Growth Profile and Endocrine Dysfunction in Children Aged 2-10 Years With Transfusion-Dependent β-Thalassemia Major.
    Ashutosh Tripathi, Priyanka Singh, Archana Bundela +3
    CureusPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  23. A Genome-wide Genetic Data Resource for the 45 and Up Study
    H. Mesrian Tanha, D. Goldsbury, R. Parker +9
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  24. Updates to contemporary care of glioblastoma
    Bernadeth Lyn C. Piamonte, Wiley Gillam, Megan E.H. Still +4
    Clinical MedicinePeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsPMC
  25. Lenalidomide maintenance after initial immunochemotherapy in chronic lymphocytic leukaemia—Final analysis of the international phase III CLL6 RESIDUUM study of the ALLG and FILO groups
    Thérèse Aurran-Schleinitz, Rémi Letestu, Mary Sartor +43
    British Journal of HaematologyPeer-reviewedCC BY-NCFull textHuman geneticsHAL