73 Matching Annotations
  1. Last 7 days
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    Phenotypic pleiotropy of missense variants in human B cell confinement receptor P2RY8
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    sciencedirect.com/science/article/pii/S2666979X2500237X
  3. Aug 2025
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    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
  5. Jul 2025
  6. 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
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    pmc.ncbi.nlm.nih.gov/articles/PMC11743868/
  7. 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/
  8. May 2025
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    Auditory neuropathy spectrum disorder and related auditory features in patients with hearing loss associated with the MT-TS1 m.7471dup variant
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    sciencedirect.com/science/article/pii/S1567724925000534
  10. 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
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    pmc.ncbi.nlm.nih.gov/articles/PMC12046333/
  11. Apr 2025
  12. 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
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    pmc.ncbi.nlm.nih.gov/articles/PMC11994999/
  13. Mar 2025
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
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    pmc.ncbi.nlm.nih.gov/articles/PMC11937388/
  15. Feb 2025
  16. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia
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    pmc.ncbi.nlm.nih.gov/articles/PMC11838931/
  17. 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
  18. aacrjournals.org aacrjournals.org
    Multiomics Profiling Distinguishes Sebaceous Carcinoma from Benign Sebaceous Neoplasms and Provides Insight into the Genetic Evolution of Sebaceous Carcinogenesis
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    aacrjournals.org/clincancerres/article/30/21/4887/749133/Multiomics-Profiling-Distinguishes-Sebaceous
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    Individualized patient tumor organoids faithfully preserve human brain tumor ecosystems and predict patient response to therapy
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    sciencedirect.com/science/article/pii/S1934590925000025
  20. Jan 2025
  21. 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
  22. 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
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    pmc.ncbi.nlm.nih.gov/articles/PMC11713863/
  23. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC11670052/
  24. Dec 2024
  25. 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/
  26. Nov 2024
  27. 52.53.155.43 52.53.155.43
    ccr-24-1884-html.html
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    52.53.155.43/ea98aa5d62a1ba29416210f2e28b0b45a8941a16/ccr-24-1884-html.html
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  29. Sep 2024
  30. movementdisorders.onlinelibrary.wiley.com movementdisorders.onlinelibrary.wiley.com
    NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
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    movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29902
  31. 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/
  32. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC11393547/
  33. Jul 2024
  34. www.nature.com www.nature.com
    Novel molecular subtypes of METex14 non-small cell lung cancer with distinct biological and clinical significance
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    nature.com/articles/s41698-024-00642-6
  35. 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
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    pmc.ncbi.nlm.nih.gov/articles/PMC11278020/
  36. May 2024
  37. 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
  38. aacrjournals.org aacrjournals.org
    Integrative molecular analyses of the MD Anderson prostate cancer patient-derived xenograft (MDA PCa PDX) series
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    aacrjournals.org/clincancerres/article/30/10/2272/745168/Integrative-Molecular-Analyses-of-the-MD-Anderson
  39. Mar 2024
  40. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Patient derived tumoroids of high grade neuroendocrine neoplasms for more personalized therapies
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    ncbi.nlm.nih.gov/pmc/articles/PMC10907580/
  41. Jan 2024
  42. www.sciencedirect.com www.sciencedirect.com
    Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
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    sciencedirect.com/science/article/pii/S2666379123006122
  43. www.nature.com www.nature.com
    A new genomic framework to categorize pediatric acute myeloid leukemia
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    nature.com/articles/s41588-023-01640-3
  44. Dec 2023
  45. 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
  46. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
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    ncbi.nlm.nih.gov/pmc/articles/PMC10659467/
  47. 52.53.155.43 52.53.155.43
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  48. 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
  49. Nov 2023
  50. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC10618656/
  51. Oct 2023
  52. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas
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    ncbi.nlm.nih.gov/pmc/articles/PMC10560290/
  53. Jul 2023
  54. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest
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    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  55. Jun 2023
  56. 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/
  57. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC9722539/
  58. 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
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  59. Apr 2023
  60. www.sciencedirect.com www.sciencedirect.com
    Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration
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    sciencedirect.com/science/article/pii/S2589004223004947
  61. Feb 2023
  62. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC9780084/
  63. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular phenotypic map of malignant pleural mesothelioma
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    ncbi.nlm.nih.gov/pmc/articles/PMC9881451/
  64. Oct 2022
  65. 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/
  66. Jul 2022
  67. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families
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    ncbi.nlm.nih.gov/pmc/articles/PMC9257073/
  68. Jun 2022
  69. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC9236884/
  70. 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
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    link.springer.com/article/10.1186/s12915-022-01349-5
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    Serial Tumor Molecular Profiling of Newly Diagnosed HER2-Negative Breast Cancers During Chemotherapy in Combination with Angiogenesis Inhibitors
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    link.springer.com/article/10.1007/s11523-022-00886-x
  72. 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
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    europepmc.org/article/PMC/PMC9161282
  73. 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
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  74. May 2022
  75. 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.
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    f1000research.com/articles/11-530
  76. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Roles of Endomembrane Alkali Cation/Proton Exchangers in Synaptic Function and Neurodevelopmental Disorders
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    ncbi.nlm.nih.gov/pmc/articles/PMC9081726/
  77. gigabytejournal.com gigabytejournal.com
    LT1, an ONT long-read-based assembly scaffolded with Hi-C data and polished with short reads
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    gigabytejournal.com/articles/51
  78. 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
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    aacrjournals.org/cancerrescommun/article/2/4/258/694752/A-Phenogenetic-Axis-that-Modulates-Clinical
  79. Apr 2022
  80. f1000research.com f1000research.com
    F1000Research Article: IsoAligner: dynamic mapping of amino acid positions across protein isoforms.
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    f1000research.com/articles/11-382
  81. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
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    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  82. Jan 2022
  83. 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
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    link.springer.com/article/10.1007/s10689-021-00285-7
  84. Oct 2021
  85. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
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    ncbi.nlm.nih.gov/pmc/articles/PMC8476128/
  86. Aug 2021
  87. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genomic characterization of de novo metastatic breast cancer
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    ncbi.nlm.nih.gov/pmc/articles/PMC7887078/
  88. Jul 2021
  89. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC6773855/
  90. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    sciencedirect.com/science/article/pii/S1550413118306302
  91. May 2021
  92. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives
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    ncbi.nlm.nih.gov/pmc/articles/PMC8137826/
  93. Apr 2021
  94. 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
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    sciencedirect.com/science/article/pii/S2666379121000665
  95. Mar 2021
  96. bpspubs.onlinelibrary.wiley.com bpspubs.onlinelibrary.wiley.com
    BPS Publications
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    bpspubs.onlinelibrary.wiley.com/doi/10.1111/bph.15366
  97. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human polymorphisms in GSDMD alter the inflammatory response
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    ncbi.nlm.nih.gov/pmc/articles/PMC7062166/
  98. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
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    academic.oup.com/hmg/article/29/22/3679/6035190
  99. Feb 2021
  100. www.frontiersin.org www.frontiersin.org
    A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila
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    frontiersin.org/article/10.3389/fnins.2020.00068/full
  101. elifesciences.org elifesciences.org
    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy
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    elifesciences.org/articles/64434
  102. Dec 2020
  103. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC7688309/
  104. Sep 2020
  105. www.jbc.org www.jbc.org
    Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome
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    jbc.org/content/295/20/7075.full
  106. Jan 2020
  107. elifesciences.org elifesciences.org
    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function
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    elifesciences.org/articles/48339
  108. www.sciencedirect.com www.sciencedirect.com
    A Patient-Derived Glioblastoma Organoid Model and Biobank Recapitulates Inter- and Intra-tumoral Heterogeneity
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    sciencedirect.com/science/article/pii/S0092867419313212
  109. www.sciencedirect.com www.sciencedirect.com
    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
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    sciencedirect.com/science/article/pii/S0092867419307809
  110. www.sciencedirect.com www.sciencedirect.com
    Integrated Proteogenomic Characterization of HBV-Related Hepatocellular Carcinoma
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    sciencedirect.com/science/article/pii/S0092867419310037