92 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Characterization of Genetic Etiological Factors for Pediatric Acute Lymphoblastic Leukemia in Large Childhood Cancer Survivorship Cohorts
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC13251607/
  3. Jun 2026
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Opportunistic screening of high breast cancer risk variants in hospital biobank setting
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC13227088/
  5. May 2026
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Protocol for identifying genetic modifiers of phenotypes in individuals with disease-associated variants
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC13188092/
  7. link.springer.com link.springer.com
    Broader gene representation by whole-exome sequencing improves accuracy of tumor mutational burden assessment for selection of pembrolizumab immunotherapy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s00262-026-04365-4
  8. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Out-of-frame CBX3::ALK fusion drives ALK activation and therapy response
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC13130619/
  9. Apr 2026
  10. www.jci.org www.jci.org
    Functional Characterization of <i>SDHB</i> Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype–Phenotype Relationships
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    jci.org/articles/view/198165
  11. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutational Signatures and Clonal Hematopoiesis in Intestinal Metaplasia across Countries with Varying Stomach Cancer Incidence
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC13056296/
  12. 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
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    54.241.53.176/3e63435d4731406bfcdb4ffda4d231800522dc1e/inline-supplementary-material-1-html.html
  13. Mar 2026
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Germline predisposition to oncogenic alkylating damage in colorectal cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12977196/
  15. Feb 2026
  16. 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
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    biorxiv.org/content/10.64898/2026.02.18.705724v1
  17. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The molecular and functional landscape of resistance to FOLFIRI chemotherapy in metastatic colorectal cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12877753/
  18. Jan 2026
  19. febs.onlinelibrary.wiley.com febs.onlinelibrary.wiley.com
    Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan-cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    febs.onlinelibrary.wiley.com/doi/10.1002/1878-0261.70205
  20. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinicogenomic characterization of inflammatory breast cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12255483/
  21. link.springer.com link.springer.com
    Functional genetic variants in immune-checkpoint molecules and susceptibility to Nasopharyngeal carcinoma in a Tunisian case-control study
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s11033-025-11385-3
  22. Dec 2025
  23. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Low OLFM1 and BMP6 Expression Predicts Recurrence in Early-Stage Non-Squamous NSCLC with Pure Solid Tumor Appearance
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12711631/
  24. www.nature.com www.nature.com
    Personalized ctDNA detection and genomic profiling in the NeoRHEA Study
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    nature.com/articles/s41523-025-00852-6
  25. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Integration of Dose Surface Maps and Genetic Data Identifies the Lower Posterior Rectum as a Key Region for Toxicity after Prostate Cancer Radiotherapy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12666314/
  26. Nov 2025
  27. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    DLBCL Cells Emerge after CD19 CAR T Cells with Cross-Antigen Resistance and a Gene Signature Predictive of Clinical CAR T-cell Response
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12591092/
  28. Sep 2025
  29. www.sciencedirect.com www.sciencedirect.com
    Mutational landscape of glomus tumor and clinical application of genomic profiling based on next-generation sequencing technology
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0344033825004236
  30. www.sciencedirect.com www.sciencedirect.com
    Phenotypic pleiotropy of missense variants in human B cell confinement receptor P2RY8
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S2666979X2500237X
  31. Aug 2025
  32. www.sciencedirect.com www.sciencedirect.com
    Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S2352396425003433
  33. Jul 2025
  34. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genomic and epigenomic analysis of plasma cell-free DNA identifies stemness features associated with worse survival in lethal prostate cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11743868/
  35. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12209765/
  36. May 2025
  37. www.sciencedirect.com www.sciencedirect.com
    Auditory neuropathy spectrum disorder and related auditory features in patients with hearing loss associated with the MT-TS1 m.7471dup variant
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1567724925000534
  38. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12046333/
  39. Apr 2025
  40. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Ultrasensitive Detection and Monitoring of Circulating Tumor DNA Using Structural Variants in Early-Stage Breast Cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11994999/
  41. Mar 2025
  42. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11937388/
  43. Feb 2025
  44. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11838931/
  45. aacrjournals.org aacrjournals.org
    A novel human SDHA‑knockout cell line model for the functional analysis of clinically‑relevant SDHA variants
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    aacrjournals.org/clincancerres/article/30/23/5399/750191/A-Novel-Human-SDHA-Knockout-Cell-Line-Model-for
  46. aacrjournals.org aacrjournals.org
    Multiomics Profiling Distinguishes Sebaceous Carcinoma from Benign Sebaceous Neoplasms and Provides Insight into the Genetic Evolution of Sebaceous Carcinogenesis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    aacrjournals.org/clincancerres/article/30/21/4887/749133/Multiomics-Profiling-Distinguishes-Sebaceous
  47. www.sciencedirect.com www.sciencedirect.com
    Individualized patient tumor organoids faithfully preserve human brain tumor ecosystems and predict patient response to therapy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1934590925000025
  48. Jan 2025
  49. physoc.onlinelibrary.wiley.com physoc.onlinelibrary.wiley.com
    Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    physoc.onlinelibrary.wiley.com/doi/10.1113/JP286367
  50. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clonal Hematopoiesis of Indeterminate Potential and its Association with Treatment Outcomes and Adverse Events in Patients with Solid Tumors
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11713863/
  51. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11670052/
  52. Dec 2024
  53. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11621922/
  54. Nov 2024
  55. 52.53.155.43 52.53.155.43
    ccr-24-1884-html.html
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    52.53.155.43/ea98aa5d62a1ba29416210f2e28b0b45a8941a16/ccr-24-1884-html.html
  56. 52.53.155.43 52.53.155.43
    ccr-24-1240-html.html
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    52.53.155.43/6cf3ca03fe9336b8c2f71d4e78c72374e9cc1cef/ccr-24-1240-html.html
  57. Sep 2024
  58. movementdisorders.onlinelibrary.wiley.com movementdisorders.onlinelibrary.wiley.com
    NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29902
  59. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An interconnected data infrastructure to support large-scale rare disease research
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC11413801/
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    SJPedPanel: A pan-cancer gene panel for childhood malignancies to enhance cancer monitoring and early detection
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC11393547/
  61. Jul 2024
  62. www.nature.com www.nature.com
    Novel molecular subtypes of METex14 non-small cell lung cancer with distinct biological and clinical significance
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    nature.com/articles/s41698-024-00642-6
  63. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11278020/
  64. May 2024
  65. 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)
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    aacrjournals.org/clincancerres/article/30/7/1256/741834/Negative-Hyperselection-of-Resistance-Mutations
  66. aacrjournals.org aacrjournals.org
    Integrative molecular analyses of the MD Anderson prostate cancer patient-derived xenograft (MDA PCa PDX) series
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    aacrjournals.org/clincancerres/article/30/10/2272/745168/Integrative-Molecular-Analyses-of-the-MD-Anderson
  67. Mar 2024
  68. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Patient derived tumoroids of high grade neuroendocrine neoplasms for more personalized therapies
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10907580/
  69. Jan 2024
  70. www.sciencedirect.com www.sciencedirect.com
    Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S2666379123006122
  71. www.nature.com www.nature.com
    A new genomic framework to categorize pediatric acute myeloid leukemia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    nature.com/articles/s41588-023-01640-3
  72. Dec 2023
  73. www.sciencedirect.com www.sciencedirect.com
    Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S2211124723015024
  74. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10659467/
  75. 52.53.155.43 52.53.155.43
    physiolgenomics.00070.2023-html.html
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
  76. journals.physiology.org journals.physiology.org
    Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
  77. Nov 2023
  78. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and Molecular Features of Long-term Response to Immune Checkpoint Inhibitors in Patients with Advanced Non–Small Cell Lung Cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10618656/
  79. Oct 2023
  80. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10560290/
  81. Jul 2023
  82. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  83. Jun 2023
  84. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications
    2
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9367218/
  85. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical Efficacy and Whole Exome Sequencing of Liquid Biopsies in a Phase IB/II study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor-Positive Breast Cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9722539/
  86. 52.53.155.43 52.53.155.43
    Rare heterozygous loss-of-function variants in the human GLP-1 receptor do not associate with cardiometabolic phenotypes
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    52.53.155.43/0d8a8326e207e02308b62f547ab272752606f288/dgad290-html.html
  87. Apr 2023
  88. www.sciencedirect.com www.sciencedirect.com
    Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S2589004223004947
  89. Feb 2023
  90. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9780084/
  91. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular phenotypic map of malignant pleural mesothelioma
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9881451/
  92. Oct 2022
  93. 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
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
  94. Jul 2022
  95. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9257073/
  96. Jun 2022
  97. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9236884/
  98. link.springer.com link.springer.com
    Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1186/s12915-022-01349-5
  99. link.springer.com link.springer.com
    Serial Tumor Molecular Profiling of Newly Diagnosed HER2-Negative Breast Cancers During Chemotherapy in Combination with Angiogenesis Inhibitors
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s11523-022-00886-x
  100. europepmc.org europepmc.org
    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    europepmc.org/article/PMC/PMC9161282
  101. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9161282/
  102. May 2022
  103. f1000research.com f1000research.com
    F1000Research Article: The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    f1000research.com/articles/11-530
  104. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Roles of Endomembrane Alkali Cation/Proton Exchangers in Synaptic Function and Neurodevelopmental Disorders
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9081726/
  105. gigabytejournal.com gigabytejournal.com
    LT1, an ONT long-read-based assembly scaffolded with Hi-C data and polished with short reads
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    gigabytejournal.com/articles/51
  106. aacrjournals.org aacrjournals.org
    A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid NeoplasmsLandscape of Myeloid Neoplasms in a Chinese Cohort
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    aacrjournals.org/cancerrescommun/article/2/4/258/694752/A-Phenogenetic-Axis-that-Modulates-Clinical
  107. Apr 2022
  108. f1000research.com f1000research.com
    F1000Research Article: IsoAligner: dynamic mapping of amino acid positions across protein isoforms.
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    f1000research.com/articles/11-382
  109. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  110. Jan 2022
  111. link.springer.com link.springer.com
    Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s10689-021-00285-7
  112. Oct 2021
  113. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8476128/
  114. Aug 2021
  115. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genomic characterization of de novo metastatic breast cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7887078/
  116. Jul 2021
  117. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ABCC9 -related Intellectual disability Myopathy Syndrome is a K ATP channelopathy with loss-of-function mutations in ABCC9
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6773855/
  118. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1550413118306302
  119. May 2021
  120. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8137826/
  121. Apr 2021
  122. www.sciencedirect.com www.sciencedirect.com
    Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S2666379121000665
  123. Mar 2021
  124. bpspubs.onlinelibrary.wiley.com bpspubs.onlinelibrary.wiley.com
    BPS Publications
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    bpspubs.onlinelibrary.wiley.com/doi/10.1111/bph.15366
  125. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human polymorphisms in GSDMD alter the inflammatory response
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7062166/
  126. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    academic.oup.com/hmg/article/29/22/3679/6035190
  127. Feb 2021
  128. www.frontiersin.org www.frontiersin.org
    A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    frontiersin.org/article/10.3389/fnins.2020.00068/full
  129. elifesciences.org elifesciences.org
    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    elifesciences.org/articles/64434
  130. Dec 2020
  131. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Single-cell multiomic profiling of human lungs reveals cell-type-specific and age-dynamic control of SARS-CoV2 host genes
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7688309/
  132. Sep 2020
  133. www.jbc.org www.jbc.org
    Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    jbc.org/content/295/20/7075.full
  134. Jan 2020
  135. elifesciences.org elifesciences.org
    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    elifesciences.org/articles/48339
  136. www.sciencedirect.com www.sciencedirect.com
    A Patient-Derived Glioblastoma Organoid Model and Biobank Recapitulates Inter- and Intra-tumoral Heterogeneity
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0092867419313212
  137. www.sciencedirect.com www.sciencedirect.com
    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0092867419307809
  138. www.sciencedirect.com www.sciencedirect.com
    Integrated Proteogenomic Characterization of HBV-Related Hepatocellular Carcinoma
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0092867419310037