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203,952 studies31 sourcesUpdated 58 min ago

Human genetics

961 studies23 in 7 days555 in 30 days

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961 studies

  1. A national spatial prioritisation framework for the targeted expansion of essential sickle cell disease services across health-facility catchments in Uganda.
    George Paasi, Grace Ndeezi, Ruth Namazzi +5
    BMC global and public healthPeer-reviewedCC BY-NC-NDFull text1 citedHuman geneticsEurope PMC
  2. Spatial heterogeneity in glioblastoma: linking single-cell and spatial multi-omics to vaccine immunotherapy
    Juan Yuan, Yong Liu
    Frontiers in ImmunologyPeer-reviewedCC BY 4.0Full textHuman geneticsPMCCrossrefEurope PMC
  3. A genome-wide association study on medulloblastoma
    Anna M. Dahlin, Carl Wibom, Ulrika Andersson +24
    Journal of Neuro-OncologyPeer-reviewedCC BYFull text13 citedHuman geneticsHAL
  4. Hip region muscular dystrophy and emergence of motor deficits in dysferlin-deficient Bla/J mice
    Nadia Nagy, Randal Nonneman, Telmo Llanga +11
    Physiological ReportsPeer-reviewedHAL deposit licenceFull text32 citedHuman geneticsHAL
  5. Proximity-mapped whole-genome sequencing for characterization of repeat expansions and variants in highly homologous genomic regions
    Y. Lin, L. Zhang, Y. Qiang +3
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  6. Hemolytic Jaundice and Anemia With Methemoglobinemia in Dizygotic Newborn Twins With Hb Evans: Case Report
    Alina Saldarriaga, Bailey B. Zeiler, Rachel Brennan +4
    NeonatologyPeer-reviewedCC BY-NC 4.0Full textHuman geneticsPMC
  7. Pretreatment Lactate Dehydrogenase-to-Albumin Ratio Identifies an Early Adverse Prognostic Profile in IDH-Wildtype Glioblastoma: A Real-World Cohort Study.
    Hayrani Kaya, Asim Armagan Aydin, Abdullah Umit +6
    Medicina (Kaunas, Lithuania)Peer-reviewedCC BYFull textHuman geneticsEurope PMC
  8. The Efficacy and Safety of Adding Teniposide to Temozolomide Plus Bevacizumab in Recurrent Grade 4 Glioma: A Real-World Exploratory Single-Center Study
    Zekun Deng, Hongqing Cai, Yujia Chen +6
    Journal of Clinical MedicinePeer-reviewedCC BY 4.0Human geneticsCrossref
  9. India's indigenous CRISPR-based gene-editing therapy for sickle cell disease: innovation to equitable implementation.
    Sarbasree Bhattacharjee, Jarina Begum
    The Lancet regional health. Southeast AsiaPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMC
  10. H3K27M cooperates with ASCL1 to maintain progenitor states and drive gliomagenesis
    Alan L. Jiao, Abolfazl Maghrouni, Arantxa Gutierrez +13
    Nature CommunicationsPeer-reviewedCC BY 4.0Full textHuman geneticsCrossref
  11. Pilot intraindividual secretome profiling of adipose-derived stem cells in multiple symmetric lipomatosis
    Ruben Reinhard, Oliver Felthaus, Andreas Siegmund +7
    Scientific ReportsPeer-reviewedCC BY 4.0Full textHuman geneticsCrossref
  12. A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden
    A. Ameur, F. Taylan, M. Ek +42
    medRxivPreprintCC BY-NCFull textHuman geneticsmedRxiv
  13. Long-read sequencing and benchmarking of saliva against blood for genomic variant detection in autism
    Y. Sui, G. Campos, Y. Kwon +8
    medRxivPreprintCC BYFull textHuman geneticsmedRxivEurope PMC
  14. Investigating the pathogenicity of missense spliceogenic variants using whole-genome sequencing, RNA-sequencing, and proteomics data from population and clinical research cohorts
    M. R. Rintari, V. K. Chundru, C. J. Oquendo +4
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  15. Common centromeric variation associates with molecular and complex traits in humans
    Y. Dong, D. Cutler, J. S. Weinstock
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  16. Worldwide diversity and geographic structure of killer-cell immunoglobulin-like receptor (KIR) gene content
    A. Obeso Fernandez
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  17. Glioblastoma stem cell–immune microenvironment crosstalk: molecular mechanisms and therapeutic opportunities
    Chuanhai Xu, Linlin Chai, Wei Yuan
    Frontiers in ImmunologyPeer-reviewedCC BY 4.0Full textHuman geneticsCrossrefEurope PMC
  18. Comparative analysis of select 3D human mesenchymal stromal cell-derived spheroid models for adipogenic differentiation.
    Bianca Vezzani, Elisa Tamburini, Anna Terenziani +3
    AdipocytePeer-reviewedCC BY-NCFull textHuman geneticsEurope PMC
  19. MRMaid: The SRM Assay Design Tool for Arabidopsis and Other Species
    Jun Fan, Fady Mohareb, Alexandra Jones +1
    Frontiers in Plant SciencePeer-reviewedCC BYFull text17 citedHuman geneticsHAL
  20. Study of microRNAs-21/221 as potential breast cancer biomarkers in Egyptian women
    Tarek Mohamed Kamal Motawi, Nermin Abdel Hamid Sadik, Olfat Gamil Shaker +2
    GenePeer-reviewedLicence not stated44 citedHuman geneticsHAL
  21. Hydroxyurea and transfusion together: a step forward in defining the value of combination therapy in severe sickle cell disease
    Parul Rai, Sandra Capellera-Garcia, Deepa Manwani
    Annals of Translational MedicinePeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsPMC
  22. Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report.
    Elena Papageorgiou, Christina Keramida, Elissavet Siomou +9
    Experimental and therapeutic medicinePeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMCPMC
  23. Evaluating the Prognostic Significance of the H-Index and Systemic Inflammatory Parameters in IDH-Wildtype Glioblastoma Survival.
    Havva Yeşil, Bekir Demirel, Ercan Gumusburun
    Current oncology (Toronto, Ont.)Peer-reviewedCC BYFull textHuman geneticsEurope PMC
  24. Retinal arteriolar tortuosity as a candidate genetic window to inner-ear microvasculature: distributed sharing with blood pressure at CSK and PAWR and a roadmap for larger hearing GWAS
    l. yang, y. liu
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  25. Genetic Variant Burden Rises with BMI: Insights from Rare and Low-Frequency Variants in Obesity
    S. E. John, A. Channanath, M. Z. Malik +3
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv