48 Matching Annotations
  1. Mar 2024
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Patient derived tumoroids of high grade neuroendocrine neoplasms for more personalized therapies
    1
    1. scibot 06 Mar 2024
      RRID:SCR_014964

      DOI: 10.1038/s41698-024-00549-2

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    ncbi.nlm.nih.gov/pmc/articles/PMC10907580/
  3. Jan 2024
  4. www.sciencedirect.com www.sciencedirect.com
    Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
    1
    1. scibot 25 Jan 2024
      RRID:SCR_014964

      DOI: 10.1016/j.xcrm.2023.101383

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    sciencedirect.com/science/article/pii/S2666379123006122
  5. www.nature.com www.nature.com
    A new genomic framework to categorize pediatric acute myeloid leukemia
    1
    1. scibot 18 Jan 2024
      RRID:SCR_014964

      DOI: 10.1038/s41588-023-01640-3

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    nature.com/articles/s41588-023-01640-3
  6. Dec 2023
  7. www.sciencedirect.com www.sciencedirect.com
    Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy
    1
    1. scibot 20 Dec 2023
      RRID:SCR_014964

      DOI: 10.1016/j.celrep.2023.113490

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    sciencedirect.com/science/article/pii/S2211124723015024
  8. 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
    1. scibot 01 Dec 2023
      RRID:SCR_014964

      DOI: 10.1101/2023.11.06.23298176

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    ncbi.nlm.nih.gov/pmc/articles/PMC10659467/
  9. 52.53.155.43 52.53.155.43
    physiolgenomics.00070.2023-html.html
    1
    1. scibot 01 Dec 2023
      RRID:SCR_014964

      DOI: 10.6084/m9.figshare.23598732.v4

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    52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
  10. journals.physiology.org journals.physiology.org
    Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
    1
    1. scibot 01 Dec 2023
      RRID:SCR_014964

      DOI: 10.1152/physiolgenomics.00070.2023

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    journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
  11. Nov 2023
  12. 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
    1. scibot 03 Nov 2023
      RRID:SCR_014964

      DOI: 10.1158/1078-0432.CCR-23-1207

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    ncbi.nlm.nih.gov/pmc/articles/PMC10618656/
  13. Oct 2023
  14. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas
    1
    1. scibot 12 Oct 2023
      RRID:SCR_014964

      DOI: 10.1038/s41467-023-41926-y

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    ncbi.nlm.nih.gov/pmc/articles/PMC10560290/
  15. Jul 2023
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest
    1
    1. scibot 06 Jul 2023
      RRID:SCR_014964

      DOI: 10.7554/eLife.85649

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    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  17. Jun 2023
  18. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications
    2
    1. scibot 06 Jun 2023
      RRID:SCR_01

      DOI: 10.3389/fped.2022.899742

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    2. scibot 06 Jun 2023
      RRID:SCR_01

      DOI: 10.3389/fped.2022.899742

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    ncbi.nlm.nih.gov/pmc/articles/PMC9367218/
  19. 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
    1. scibot 03 Jun 2023
      RRID:SCR_014964

      DOI: 10.1158/1078-0432.CCR-22-2305

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    ncbi.nlm.nih.gov/pmc/articles/PMC9722539/
  20. 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
    1. scibot 01 Jun 2023
      RRID:SCR_014964

      DOI: 10.1210/clinem/dgad290

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    52.53.155.43/0d8a8326e207e02308b62f547ab272752606f288/dgad290-html.html
  21. Apr 2023
  22. www.sciencedirect.com www.sciencedirect.com
    Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration
    1
    1. scibot 06 Apr 2023
      RRID:SCR_014964

      DOI: 10.1016/j.isci.2023.106417

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    sciencedirect.com/science/article/pii/S2589004223004947
  23. Feb 2023
  24. 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
    1. scibot 09 Feb 2023
      RRID:SCR_014964

      DOI: 10.1158/2643-3230.BCD-21-0160

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    ncbi.nlm.nih.gov/pmc/articles/PMC9780084/
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular phenotypic map of malignant pleural mesothelioma
    1
    1. scibot 02 Feb 2023
      RRID:SCR_014964

      DOI: 10.1093/gigascience/giac128

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    ncbi.nlm.nih.gov/pmc/articles/PMC9881451/
  26. Oct 2022
  27. 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
    1. scibot 14 Oct 2022
      RRID:SCR_014964

      DOI: 10.3389/fgene.2022.993064

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    ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
  28. Jul 2022
  29. 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
    1. scibot 09 Jul 2022
      RRID:SCR_014964

      DOI: 10.3389/fgene.2022.922287

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    ncbi.nlm.nih.gov/pmc/articles/PMC9257073/
  30. Jun 2022
  31. 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
    1. scibot 30 Jun 2022
      SCR_014964

      DOI: 10.3389/fonc.2022.885155

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    ncbi.nlm.nih.gov/pmc/articles/PMC9236884/
  32. 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
    1. scibot 28 Jun 2022
      RRID:SCR_014964

      DOI: 10.1186/s12915-022-01349-5

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    link.springer.com/article/10.1186/s12915-022-01349-5
  33. 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
    1. scibot 15 Jun 2022
      RRID:SCR_014964

      DOI: 10.1007/s11523-022-00886-x

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    link.springer.com/article/10.1007/s11523-022-00886-x
  34. 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
    1. scibot 07 Jun 2022
      RRID:SCR_014964

      DOI: 10.3389/fnins.2022.862315

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    europepmc.org/article/PMC/PMC9161282
  35. 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
    1. scibot 04 Jun 2022
      RRID:SCR_014964

      DOI: 10.3389/fnins.2022.862315

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    ncbi.nlm.nih.gov/pmc/articles/PMC9161282/
  36. May 2022
  37. 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
    1. scibot 21 May 2022
      RRID:SCR_014964

      DOI: 10.12688/f1000research.110194.1

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    f1000research.com/articles/11-530
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Roles of Endomembrane Alkali Cation/Proton Exchangers in Synaptic Function and Neurodevelopmental Disorders
    1
    1. scibot 11 May 2022
      RRID:SCR_014964

      DOI: 10.3389/fphys.2022.892196

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    ncbi.nlm.nih.gov/pmc/articles/PMC9081726/
  39. gigabytejournal.com gigabytejournal.com
    LT1, an ONT long-read-based assembly scaffolded with Hi-C data and polished with short reads
    1
    1. scibot 10 May 2022
      RRID:SCR_014964

      DOI: 10.46471/gigabyte.51

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    gigabytejournal.com/articles/51
  40. 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
    1. scibot 05 May 2022
      RRID:SCR_014964

      DOI: 10.1158/2767-9764.CRC-21-0194

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    aacrjournals.org/cancerrescommun/article/2/4/258/694752/A-Phenogenetic-Axis-that-Modulates-Clinical
  41. Apr 2022
  42. f1000research.com f1000research.com
    F1000Research Article: IsoAligner: dynamic mapping of amino acid positions across protein isoforms.
    1
    1. scibot 09 Apr 2022
      RRID:SCR_014964

      DOI: 10.12688/f1000research.76154.1

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    f1000research.com/articles/11-382
  43. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
    1
    1. scibot 06 Apr 2022
      RRID:SCR_014964

      DOI: 10.1530/EJE-21-0097

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    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  44. Jan 2022
  45. 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
    1. scibot 06 Jan 2022
      RRID:SCR_014964

      DOI: 10.1007/s10689-021-00285-7

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    link.springer.com/article/10.1007/s10689-021-00285-7
  46. Oct 2021
  47. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
    1
    1. scibot 02 Oct 2021
      RRID:SCR_014964

      DOI: 10.7554/eLife.68610

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    ncbi.nlm.nih.gov/pmc/articles/PMC8476128/
  48. Aug 2021
  49. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genomic characterization of de novo metastatic breast cancer
    1
    1. scibot 17 Aug 2021
      RRID:SCR_014964

      DOI: 10.1158/1078-0432.CCR-20-1720

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    ncbi.nlm.nih.gov/pmc/articles/PMC7887078/
  50. Jul 2021
  51. www.nature.com www.nature.com
    ABCC9 -related Intellectual disability Myopathy Syndrome is a K ATP channelopathy with loss-of-function mutations in ABCC9
    1
    1. scibot 30 Jul 2021
      gnomAD

      DOI: 10.1038/s41467-019-12428-7

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      Curator: @Naa003

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    nature.com/articles/s41467-019-12428-7
  52. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 30 Jul 2021
      RRID:SCR_014964

      DOI: 10.1016/j.cmet.2018.09.022

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      Curator: @evieth

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    sciencedirect.com/science/article/pii/S1550413118306302
  53. May 2021
  54. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives
    1
    1. scibot 26 May 2021
      RRID:SCR_014964

      DOI: 10.3389/fcvm.2021.646391

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    ncbi.nlm.nih.gov/pmc/articles/PMC8137826/
  55. Apr 2021
  56. 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
    1. scibot 21 Apr 2021
      RRID:SCR_014964

      DOI: 10.1016/j.xcrm.2021.100250

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    sciencedirect.com/science/article/pii/S2666379121000665
  57. Mar 2021
  58. bpspubs.onlinelibrary.wiley.com bpspubs.onlinelibrary.wiley.com
    BPS Publications
    1
    1. scibot 15 Mar 2021
      RRID:SCR_014964

      DOI: 10.1111/bph.15366

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    bpspubs.onlinelibrary.wiley.com/doi/10.1111/bph.15366
  59. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human polymorphisms in GSDMD alter the inflammatory response
    1
    1. scibot 09 Mar 2021
      RRID:SCR_014964

      DOI: 10.1074/jbc.RA119.010604

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    ncbi.nlm.nih.gov/pmc/articles/PMC7062166/
  60. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
    1
    1. scibot 03 Mar 2021
      RRID:SCR_014964

      DOI: 10.1093/hmg/ddaa268

      Resource: Genome Aggregation Database (RRID:SCR_014964)

      Curator: @Naa003

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      RRID:SCR_014964 RRIDCUR:Validated
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    academic.oup.com/hmg/article/29/22/3679/6035190
  61. Feb 2021
  62. www.frontiersin.org www.frontiersin.org
    A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila
    1
    1. scibot 24 Feb 2021
      RRID:SCR_014964

      DOI: 10.3389/fnins.2020.00068

      Resource: Genome Aggregation Database (RRID:SCR_014964)

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    frontiersin.org/article/10.3389/fnins.2020.00068/full
  63. elifesciences.org elifesciences.org
    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy
    1
    1. scibot 11 Feb 2021
      RRID:SCR_014964

      DOI: 10.7554/eLife.64434

      Resource: Genome Aggregation Database (RRID:SCR_014964)

      Curator: @evieth

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      RRID:SCR_014964 RRIDCUR:Validated
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    elifesciences.org/articles/64434
  64. Dec 2020
  65. 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
    1. scibot 07 Dec 2020
      RRID:SCR_014964

      DOI: 10.7554/eLife.62522

      Resource: Genome Aggregation Database (RRID:SCR_014964)

      Curator: @evieth

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    ncbi.nlm.nih.gov/pmc/articles/PMC7688309/
  66. Sep 2020
  67. www.jbc.org www.jbc.org
    Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome
    1
    1. scibot 06 Sep 2020
      RRID:SCR_014964

      DOI: 10.1074/jbc.RA120.012614

      Resource: Genome Aggregation Database (RRID:SCR_014964)

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    jbc.org/content/295/20/7075.full
  68. Jan 2020
  69. elifesciences.org elifesciences.org
    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function
    1
    1. scibot 13 Jan 2020
      RRID:SCR_014964

      DOI: 10.7554/eLife.48339

      Resource: Genome Aggregation Database (RRID:SCR_014964)

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    elifesciences.org/articles/48339
  70. www.sciencedirect.com www.sciencedirect.com
    A Patient-Derived Glioblastoma Organoid Model and Biobank Recapitulates Inter- and Intra-tumoral Heterogeneity
    1
    1. scibot 13 Jan 2020
      RRID:SCR_014964

      DOI: 10.1016/j.cell.2019.11.036

      Resource: Genome Aggregation Database (RRID:SCR_014964)

      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S0092867419313212
  71. www.sciencedirect.com www.sciencedirect.com
    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
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    1. scibot 13 Jan 2020
      RRID:SCR_014964

      DOI: 10.1016/j.cell.2019.07.015

      Resource: Genome Aggregation Database (RRID:SCR_014964)

      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S0092867419307809
  72. www.sciencedirect.com www.sciencedirect.com
    Integrated Proteogenomic Characterization of HBV-Related Hepatocellular Carcinoma
    1
    1. scibot 13 Jan 2020
      RRID:SCR_014964

      DOI: 10.1016/j.cell.2019.08.052

      Resource: Genome Aggregation Database (RRID:SCR_014964)

      Curator: @ethanbadger

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    sciencedirect.com/science/article/pii/S0092867419310037