101 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    STK11 Mutations and Deletions Define an Aggressive Molecular Subgroup of Cervical Adenocarcinoma
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    pmc.ncbi.nlm.nih.gov/articles/PMC13547848/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The Landscape of Genomic and Socioeconomic Variables in Patients with Colorectal Cancer Based on Genetic Ancestry
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    pmc.ncbi.nlm.nih.gov/articles/PMC13530983/
  4. Aug 2026
  5. www.nature.com www.nature.com
    MICAL2 as a key effector of β-catenin signaling driving melanoma progression and therapeutic resistance
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    nature.com/articles/s41418-026-01811-9
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Translational reading frame predicts the pathogenicity of C-terminal frameshift deletions in MeCP2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13456685/
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    iSCORE-PD: an isogenic stem cell collection to research Parkinson’s disease
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    pmc.ncbi.nlm.nih.gov/articles/PMC13434110/
  8. www.sciencedirect.com www.sciencedirect.com
    BRAF fusions define therapeutic vulnerability and tyrosine kinase inhibitor resistance in non-small cell lung cancer
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    sciencedirect.com/science/article/pii/S0169500226006173
  9. Jul 2026
  10. www.biorxiv.org www.biorxiv.org
    TrioNsight: Building a meta-predictor to evaluate the clinical impact of TrioN-like Dbl-homology domain variants
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    biorxiv.org/content/10.64898/2026.07.17.739111v1
  11. elifesciences.org elifesciences.org
    Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach
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    elifesciences.org/reviewed-preprints/109170
  12. link.springer.com link.springer.com
    Decoding Genetic Risk Factors in Recurrent Pregnancy Loss: An Integrative Chromosomal and Bioinformatics Approach
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    link.springer.com/article/10.1007/s10528-026-11424-z
  13. Jun 2026
  14. aacrjournals.org aacrjournals.org
    Phase I/II study of the PARP inhibitor olaparib and irinotecan in children and young adults with recurrent/refractory malignancies: Arm D of the AcSé-ESMART trial
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    aacrjournals.org/clincancerres/article/32/7/1210/775515/Phase-I-II-Study-of-the-PARP-Inhibitor-Olaparib
  15. aacrjournals.org aacrjournals.org
    Phase IB/II Trial with Correlative Analyses of Doxorubicin plus Durvalumab Combination in Patients with Advanced Soft Tissue Sarcoma
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    aacrjournals.org/clincancerres/article/32/9/1686/783981/Phase-IB-II-Trial-with-Correlative-Analyses-of
  16. aacrjournals.org aacrjournals.org
    The Impact of Concordance Between Liquid and Tissue Biopsy for Actionable Mutations: Insights from the Rome Trial
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    aacrjournals.org/clincancerres/article/32/1/45/771258/The-Impact-of-Concordance-between-Liquid-and
  17. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Deep mutational scanning reveals pharmacologically relevant insights into TYK2 signaling and disease
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    pmc.ncbi.nlm.nih.gov/articles/PMC13252953/
  18. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Opportunistic screening of high breast cancer risk variants in hospital biobank setting
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    pmc.ncbi.nlm.nih.gov/articles/PMC13227088/
  19. May 2026
  20. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC13176824/
  21. Apr 2026
  22. www.jci.org www.jci.org
    Functional Characterization of <i>SDHB</i> Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype–Phenotype Relationships
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    jci.org/articles/view/198165
  23. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Progression of GBA1 severe and risk variants: a longitudinal mixed model analysis
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    pmc.ncbi.nlm.nih.gov/articles/PMC13062167/
  24. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular Profiling and Tumor Biomarker Analysis of GOG281/LOGS: A Positive Late-Phase Trial of Trametinib for Recurrent/Persistent Low-Grade Serous Ovarian Carcinoma
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    pmc.ncbi.nlm.nih.gov/articles/PMC13056244/
  25. 54.241.53.176 54.241.53.176
    Integrating interferon gamma receptor pathways, antigenicity, and immune contexture as predictors of immunotherapeutic strategies for mucosal melanomas
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    54.241.53.176/3e63435d4731406bfcdb4ffda4d231800522dc1e/inline-supplementary-material-1-html.html
  26. Mar 2026
  27. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Precision Oncology for Pediatric Solid Tumors Using In‐Hospital Pediatric/AYA Malignancy‐Specific Panel Sequencing
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    pmc.ncbi.nlm.nih.gov/articles/PMC12951107/
  28. Feb 2026
  29. www.biorxiv.org www.biorxiv.org
    Systematic functional drug testing in patient-derived models reveals ex vivo sensitivities associated with clinical outcome in rare solid tumors
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    biorxiv.org/content/10.64898/2026.02.18.705724v1
  30. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD
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    pmc.ncbi.nlm.nih.gov/articles/PMC12900513/
  31. Jan 2026
  32. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinicogenomic characterization of inflammatory breast cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC12255483/
  33. www.medrxiv.org www.medrxiv.org
    STK11 mutations and deletions define a distinct subtype of cervical adenocarcinoma
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    medrxiv.org/content/10.64898/2026.01.01.25343162v1
  34. Dec 2025
  35. www.tandfonline.com www.tandfonline.com
    Integrative bioinformatics analysis of APOE variants in Alzheimer’s disease and clinical therapeutics
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    tandfonline.com/doi/abs/10.1080/07391102.2025.2597291
  36. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic characterization of pediatric B-cell acute lymphoblastic leukemia in Argentina uncovers molecular heterogeneity and novel variants
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    pmc.ncbi.nlm.nih.gov/articles/PMC12665890/
  37. Sep 2025
  38. aacrjournals.org aacrjournals.org
    Human papillomavirus integration induces oncogenic host gene fusions in oropharyngeal cancers
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    aacrjournals.org/cancerdiscovery/article/15/9/1927/764362/Human-Papillomavirus-Integration-Induces-Oncogenic
  39. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Cemiplimab in locally advanced or metastatic secondary angiosarcomas (CEMangio): A phase II clinical trial and biomarker analyses
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    pmc.ncbi.nlm.nih.gov/articles/PMC12402795/
  40. Aug 2025
  41. www.sciencedirect.com www.sciencedirect.com
    Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility
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    sciencedirect.com/science/article/pii/S2352396425003433
  42. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ClinVar Database Evolution And Impact On Potential Pathogenic Germline Variant Reporting From Tumor Comprehensive Genomic Profiling
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    pmc.ncbi.nlm.nih.gov/articles/PMC12322967/
  43. Jul 2025
  44. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    RECLASSIFICATION OF ATM MISSENSE VARIANTS OF UNCERTAIN SIGNIFICANCE BY INTEGRATING RESULTS FROM SYSTEMATIC FUNCTIONAL ASSAYS INTO AN ACMG POINTS-BASED FRAMEWORK
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    pmc.ncbi.nlm.nih.gov/articles/PMC12234152/
  45. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases
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    pmc.ncbi.nlm.nih.gov/articles/PMC12209765/
  46. Jun 2025
  47. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Cambridge Neoadjuvant Cancer of the Prostate (CANCAP03): A Window Study into the Effects of Olaparib ± Degarelix in Primary Prostate Cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC7617790/
  48. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Spatial–Temporal Diversity of Extrachromosomal DNA Shapes Urothelial Carcinoma Evolution and the Tumor Immune Microenvironment
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    pmc.ncbi.nlm.nih.gov/articles/PMC12130809/
  49. May 2025
  50. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The genomic landscape of benign and malignant thyroid tumors from individuals carrying germline PTEN variants is distinct from sporadic thyroid cancers
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    pmc.ncbi.nlm.nih.gov/articles/PMC11534558/
  51. Apr 2025
  52. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Germline variants in patients from the Iranian hereditary colorectal cancer registry
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    pmc.ncbi.nlm.nih.gov/articles/PMC11995590/
  53. Mar 2025
  54. 52.53.155.43 52.53.155.43
    PDF-html.html
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    52.53.155.43/9d2d72079ea8ca48f04203f494da6924c0f290ae/PDF-html.html
  55. Feb 2025
  56. aacrjournals.org aacrjournals.org
    A novel human SDHA‑knockout cell line model for the functional analysis of clinically‑relevant SDHA variants
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    aacrjournals.org/clincancerres/article/30/23/5399/750191/A-Novel-Human-SDHA-Knockout-Cell-Line-Model-for
  57. Jan 2025
  58. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Tp53 determines the spatial dynamics of M1/M2 tumor-associated macrophages and M1-driven tumoricidal effects
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    pmc.ncbi.nlm.nih.gov/articles/PMC11754596/
  59. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Predisposition footprints in the somatic genome of Wilms tumours
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    pmc.ncbi.nlm.nih.gov/articles/PMC7617291/
  60. physoc.onlinelibrary.wiley.com physoc.onlinelibrary.wiley.com
    Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function
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    physoc.onlinelibrary.wiley.com/doi/10.1113/JP286367
  61. Dec 2024
  62. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines
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    pmc.ncbi.nlm.nih.gov/articles/PMC11621922/
  63. Nov 2024
  64. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular and modular intricacies of precision oncology
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    pmc.ncbi.nlm.nih.gov/articles/PMC11537923/
  65. Oct 2024
  66. link.springer.com link.springer.com
    Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap
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    link.springer.com/article/10.1038/s41587-024-02386-x
  67. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical value of liquid biopsy in FGFR2 fusion-positive cholangiocarcinoma patients during targeted therapy
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    ncbi.nlm.nih.gov/pmc/articles/PMC11443220/
  68. Sep 2024
  69. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An interconnected data infrastructure to support large-scale rare disease research
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    ncbi.nlm.nih.gov/pmc/articles/PMC11413801/
  70. Jul 2024
  71. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cerebrospinal fluid cfDNA sequencing for classification of central nervous system glioma
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    ncbi.nlm.nih.gov/pmc/articles/PMC11247324/
  72. Jun 2024
  73. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    MONET: a database for prediction of neoantigens derived from microsatellite loci
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    ncbi.nlm.nih.gov/pmc/articles/PMC11148240/
  74. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Memory/Active T-Cell Activation Is Associated with Immunotherapeutic Response in Fumarate Hydratase–Deficient Renal Cell Carcinoma
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    ncbi.nlm.nih.gov/pmc/articles/PMC11145163/
  75. May 2024
  76. aacrjournals.org aacrjournals.org
    Negative hyperselection of resistance mutations for panitumumab maintenance in RAS wild-type metastatic colorectal cancer (PanaMa phase II trial, AIO KRK 0212)
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    aacrjournals.org/clincancerres/article/30/7/1256/741834/Negative-Hyperselection-of-Resistance-Mutations
  77. 52.53.155.43 52.53.155.43
    ccr-23-2907-html.html
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    52.53.155.43/41d915353208947e46d88a61eb38beca559a2aaa/ccr-23-2907-html.html
  78. Apr 2024
  79. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Co-mutations and KRAS G12C inhibitor efficacy in advanced NSCLC
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    ncbi.nlm.nih.gov/pmc/articles/PMC11024958/
  80. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia
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    ncbi.nlm.nih.gov/pmc/articles/PMC10970956/
  81. Mar 2024
  82. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel type of monocytic leukemia stem cell revealed by the clinical use of venetoclax-based therapy
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    ncbi.nlm.nih.gov/pmc/articles/PMC10527971/
  83. Dec 2023
  84. www.sciencedirect.com www.sciencedirect.com
    Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy
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    sciencedirect.com/science/article/pii/S2211124723015024
  85. 52.53.155.43 52.53.155.43
    physiolgenomics.00070.2023-html.html
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    52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
  86. journals.physiology.org journals.physiology.org
    Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
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    journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
  87. Nov 2023
  88. www.nature.com www.nature.com
    Preclinical evidence for the effective use of TL-895, a highly selective and potent second-generation BTK inhibitor, for the treatment of B-cell malignancies
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    nature.com/articles/s41598-023-47735-z
  89. Sep 2023
  90. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identifying mechanisms of resistance by circulating tumour DNA in EVOLVE, a Phase II Trial of Cediranib Plus Olaparib for Ovarian Cancer at time of PARP Inhibitor Progression
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    ncbi.nlm.nih.gov/pmc/articles/PMC10502468/
  91. Jul 2023
  92. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
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    ncbi.nlm.nih.gov/pmc/articles/PMC10319579/
  93. 52.53.155.43 52.53.155.43
    ccr-23-0797-html.html
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    52.53.155.43/2c803156d89f9529c07ad3c21352a7e38912e0ae/ccr-23-0797-html.html
  94. Jun 2023
  95. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A platform for efficient establishment and drug-response profiling of high-grade serous ovarian cancer organoids
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    ncbi.nlm.nih.gov/pmc/articles/PMC10281085/
  96. May 2023
  97. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications
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    ncbi.nlm.nih.gov/pmc/articles/PMC9367218/
  98. Apr 2023
  99. academic.oup.com academic.oup.com
    Regulatory Mendelian Mutation score for GRCh38
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    academic.oup.com/gigascience/article/doi/10.1093/gigascience/giad024/7135629
  100. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Structurally Complex Osteosarcoma Genomes Exhibit Limited Heterogeneity within Individual Tumors and across Evolutionary Time
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    ncbi.nlm.nih.gov/pmc/articles/PMC10093779/
  101. Mar 2023
  102. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach
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    ncbi.nlm.nih.gov/pmc/articles/PMC10032232/
  103. Feb 2023
  104. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comprehensive genomic profiling of upper tract urothelial carcinoma and urothelial carcinoma of the bladder identifies distinct molecular characterizations with potential implications for targeted therapy & immunotherapy
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    ncbi.nlm.nih.gov/pmc/articles/PMC9936149/
  105. Jan 2023
  106. www.nature.com www.nature.com
    Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics
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    nature.com/articles/s41698-023-00354-3
  107. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human metastatic cholangiocarcinoma patient-derived xenografts and tumoroids for preclinical drug evaluation
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    ncbi.nlm.nih.gov/pmc/articles/PMC9873249/
  108. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes
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    ncbi.nlm.nih.gov/pmc/articles/PMC9716259/
  109. Nov 2022
  110. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phase I trial of ribociclib with platinum chemotherapy in ovarian cancer
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    ncbi.nlm.nih.gov/pmc/articles/PMC9675476/
  111. Oct 2022
  112. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
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    ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
  113. Sep 2022
  114. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrative RNA-omics discovers GNAS alternative splicing as a phenotypic driver of splicing factor-mutant neoplasms
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    ncbi.nlm.nih.gov/pmc/articles/PMC8904276/
  115. Aug 2022
  116. www.sciencedirect.com www.sciencedirect.com
    Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins
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    sciencedirect.com/science/article/pii/S2666166722005287
  117. Jun 2022
  118. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators
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    ncbi.nlm.nih.gov/pmc/articles/PMC9077328/
  119. aacrjournals.org aacrjournals.org
    Predictive markers of response to neoadjuvant durvalumab with nab-paclitaxel and dose dense doxorubicin/cyclophosphamide in basal-like triple negative breast cancer
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    aacrjournals.org/clincancerres/article/28/12/2587/699273/Predictive-Markers-of-Response-to-Neoadjuvant
  120. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Humanized Animal Model Predicts Clonal Evolution and Therapeutic Vulnerabilities in Myeloproliferative Neoplasms
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    ncbi.nlm.nih.gov/pmc/articles/PMC8716669/
  121. May 2022
  122. aacrjournals.org aacrjournals.org
    Single cell characterization of the cellular landscape of acral melanoma identifies novel targets for immunotherapy
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    aacrjournals.org/clincancerres/article/28/10/2131/694823/Single-cell-Characterization-of-the-Cellular
  123. Feb 2022
  124. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism
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    ncbi.nlm.nih.gov/pmc/articles/PMC8819842/
  125. Jan 2022
  126. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
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  129. Aug 2021
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  136. Apr 2021
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  138. Mar 2021
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  140. Jan 2021
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  142. Sep 2020
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  147. Jan 2020
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    Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
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