86 Matching Annotations
  1. Last 7 days
  2. 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
  3. Apr 2026
  4. 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/
  5. 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/
  6. 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
  7. Mar 2026
  8. 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/
  9. Feb 2026
  10. 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
  11. 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/
  12. Jan 2026
  13. 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/
  14. 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
  15. Dec 2025
  16. 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
  17. 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/
  18. Sep 2025
  19. 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
  20. 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/
  21. Aug 2025
  22. 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
  23. 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/
  24. Jul 2025
  25. 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/
  26. 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/
  27. Jun 2025
  28. 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/
  29. 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/
  30. May 2025
  31. 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/
  32. Apr 2025
  33. 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/
  34. Mar 2025
  35. 52.53.155.43 52.53.155.43
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  36. Feb 2025
  37. 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
  38. Jan 2025
  39. 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/
  40. 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/
  41. 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
  42. Dec 2024
  43. 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/
  44. Nov 2024
  45. 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/
  46. Oct 2024
  47. 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
  48. 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/
  49. Sep 2024
  50. 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/
  51. Jul 2024
  52. 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/
  53. Jun 2024
  54. 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/
  55. 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/
  56. May 2024
  57. 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
  58. 52.53.155.43 52.53.155.43
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  59. Apr 2024
  60. 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/
  61. 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/
  62. Mar 2024
  63. 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/
  64. Dec 2023
  65. 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
  66. 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
  67. 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
  68. Nov 2023
  69. 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
  70. Sep 2023
  71. 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/
  72. Jul 2023
  73. 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/
  74. 52.53.155.43 52.53.155.43
    ccr-23-0797-html.html
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  75. Jun 2023
  76. 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/
  77. May 2023
  78. 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/
  79. Apr 2023
  80. 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
  81. 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/
  82. Mar 2023
  83. 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/
  84. Feb 2023
  85. 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/
  86. Jan 2023
  87. 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
  88. 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/
  89. 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/
  90. Nov 2022
  91. 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/
  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
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    ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
  94. Sep 2022
  95. 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/
  96. Aug 2022
  97. 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
  98. Jun 2022
  99. 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/
  100. 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
  101. 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/
  102. May 2022
  103. 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
  104. Feb 2022
  105. 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/
  106. Jan 2022
  107. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
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    onlinelibrary.wiley.com/doi/full/10.1002/jcla.24241
  108. Oct 2021
  109. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genomic alterations during the in situ to invasive ductal breast carcinoma transition shaped by the immune system
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    ncbi.nlm.nih.gov/pmc/articles/PMC8026652/
  110. Aug 2021
  111. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability
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    ncbi.nlm.nih.gov/pmc/articles/PMC7450116/
  112. 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/
  113. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
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    ncbi.nlm.nih.gov/pmc/articles/PMC6236233/
  114. Jul 2021
  115. www.sciencedirect.com www.sciencedirect.com
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    sciencedirect.com/science/article/pii/S1550413118306302
  116. europepmc.org europepmc.org
    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
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    europepmc.org/articles/PMC5764568/
  117. Apr 2021
  118. www.sciencedirect.com www.sciencedirect.com
    Functional interrogation of DNA damage response variants with base editing screens
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    sciencedirect.com/science/article/pii/S0092867421000842
  119. Mar 2021
  120. 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
  121. Jan 2021
  122. academic.oup.com academic.oup.com
    Genome diversity in Ukraine
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    academic.oup.com/gigascience/article/10/1/giaa159/6079618
  123. Sep 2020
  124. www.sciencedirect.com www.sciencedirect.com
    Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss
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    sciencedirect.com/science/article/pii/S2001037020302889
  125. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract
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    ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
  126. 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
  127. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
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    onlinelibrary.wiley.com/doi/10.1002/brb3.1597
  128. Jan 2020
  129. www.sciencedirect.com www.sciencedirect.com
    A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation
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    sciencedirect.com/science/article/pii/S0896627319305616
  130. Nov 2018
  131. onlinelibrary.wiley.com onlinelibrary.wiley.com
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1134
  132. Nov 2017
  133. elifesciences.org elifesciences.org
    Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
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    elifesciences.org/articles/23813
  134. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Olfaction in Parkin carriers in Chinese patients with Parkinson disease
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    Pubertal development in healthy children is mirrored by DNA methylation patterns in peripheral blood
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