60 Matching Annotations
  1. Aug 2025
  2. 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
  3. Jul 2025
  4. www.biorxiv.org www.biorxiv.org
    Bi-allelic mutations in KCTD11 cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth disease
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    biorxiv.org/content/10.1101/2025.06.30.661538v1
  5. www.nature.com www.nature.com
    Shared genomic features of HIV+ diffuse large B-cell lymphoma in two African cohorts
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    nature.com/articles/s41598-025-10529-6
  6. Apr 2025
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition
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    pmc.ncbi.nlm.nih.gov/articles/PMC11995001/
  8. 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/
  9. Feb 2025
  10. 52.53.155.43 52.53.155.43
    PDF-html.html
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    52.53.155.43/3f15b87d98f941e9a84b5e41f881bf902254c0f2/PDF-html.html
  11. 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
  12. Jan 2025
  13. 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/
  14. 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
  15. Jul 2024
  16. 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/
  17. Apr 2024
  18. 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/
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report
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    ncbi.nlm.nih.gov/pmc/articles/PMC10998992/
  20. Mar 2024
  21. 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/
  22. Feb 2024
  23. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series
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    ncbi.nlm.nih.gov/pmc/articles/PMC10830679/
  24. Dec 2023
  25. www.sciencedirect.com www.sciencedirect.com
    Integrated multi-omics profiling to dissect the spatiotemporal evolution of metastatic hepatocellular carcinoma
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    sciencedirect.com/science/article/pii/S1535610823004014
  26. www.sciencedirect.com www.sciencedirect.com
    Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review
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    sciencedirect.com/science/article/pii/S1059131123003230
  27. 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
  28. Oct 2023
  29. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Oncogenic context shapes the fitness landscape of tumor suppression
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    ncbi.nlm.nih.gov/pmc/articles/PMC10570323/
  30. Jul 2023
  31. www.sciencedirect.com www.sciencedirect.com
    Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans
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    sciencedirect.com/science/article/pii/S2589004223012701
  32. 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/
  33. Jun 2023
  34. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2202
  35. May 2023
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach
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    ncbi.nlm.nih.gov/pmc/articles/PMC10225684/
  37. Feb 2023
  38. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  39. Nov 2022
  40. www.pnas.org www.pnas.org
    Homologous recombination–deficient mutation cluster in tumor suppressor <i>RAD51C</i> identified by comprehensive analysis of cancer variants
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    pnas.org/doi/abs/10.1073/pnas.2202727119
  41. www.sciencedirect.com www.sciencedirect.com
    Reconstructing mutational lineages in breast cancer by multi-patient-targeted single-cell DNA sequencing
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    sciencedirect.com/science/article/pii/S2666979X22001689
  42. Oct 2022
  43. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2
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    ncbi.nlm.nih.gov/pmc/articles/PMC9579345/
  44. 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/
  45. Sep 2022
  46. www.nature.com www.nature.com
    ADGRL3 genomic variation implicated in neurogenesis and ADHD links functional effects to the incretin polypeptide GIP
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    nature.com/articles/s41598-022-20343-z
  47. Jun 2022
  48. 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
  49. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC9161282/
  50. Apr 2022
  51. journals.physiology.org journals.physiology.org
    Whole genome sequencing identifies a deletion mutation in the unknown-functional KCNG2 from familial sick sinus syndrome
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    journals.physiology.org/doi/full/10.1152/physiolgenomics.00132.2021
  52. link.springer.com link.springer.com
    Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome
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    link.springer.com/article/10.1007/s13258-022-01249-6
  53. jeccr.biomedcentral.com jeccr.biomedcentral.com
    Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy
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    jeccr.biomedcentral.com/articles/10.1186/s13046-022-02333-1/tables/2
  54. 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
  55. Mar 2022
  56. academic.oup.com academic.oup.com
    Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development
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    academic.oup.com/jcem/advance-article/doi/10.1210/clinem/dgac064/6521524
  57. Jan 2022
  58. 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
  59. Dec 2021
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A high-quality genome and comparison of short- versus long-read transcriptome of the palaearctic duck Aythya fuligula (tufted duck)
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    ncbi.nlm.nih.gov/pmc/articles/PMC8685854/
  61. Oct 2021
  62. link.springer.com link.springer.com
    Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
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    link.springer.com/article/10.1007/s00439-021-02372-2
  63. 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/
  64. Aug 2021
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gene mutations in a Han Chinese Alzheimer's disease cohort
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    ncbi.nlm.nih.gov/pmc/articles/PMC6346667/
  66. Jul 2021
  67. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation and epilepsy
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    onlinelibrary.wiley.com/doi/abs/10.1111/jnc.14828
  68. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Functional analysis of novel RUNX2 mutations identified in patients with Cleidocranial dysplasia
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    onlinelibrary.wiley.com/doi/10.1111/cge.13610
  69. academic.oup.com academic.oup.com
    POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women
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    academic.oup.com/jes/article/1/3/162/3063797
  70. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Untitled document
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    onlinelibrary.wiley.com/doi/full/10.1002/jcb.27636
  71. www.sciencedirect.com www.sciencedirect.com
    Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis
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    sciencedirect.com/science/article/pii/S2211124721006914
  72. May 2021
  73. journals.sagepub.com journals.sagepub.com
    Role of GATA3 exon 6 germline mutations in breast cancer progression in Egyptian female patients - Iman H Ibrahim, Heba G Abdel-Aziz, Fatema EM Hassan, Hesham SA El-Sameea, 2020
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    journals.sagepub.com/doi/10.1177/1535370220958610
  74. www.sciencedirect.com www.sciencedirect.com
    Identification of genetic biomarkers in urine for early detection of prostate cancer
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    sciencedirect.com/science/article/pii/S0147027220301033
  75. Mar 2021
  76. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C
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    ncbi.nlm.nih.gov/pmc/articles/PMC7940930/
  77. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
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    ncbi.nlm.nih.gov/pmc/articles/PMC7930628/
  78. 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
  79. Sep 2020
  80. 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
  81. 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/
  82. Jan 2020
  83. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy
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    onlinelibrary.wiley.com/doi/10.1002/brb3.1455
  84. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Gene mutations in a Han Chinese Alzheimer's disease cohort
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1180
  85. www.sciencedirect.com www.sciencedirect.com
    A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions
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    sciencedirect.com/science/article/pii/S1097276518308979
  86. Nov 2018
  87. academic.oup.com academic.oup.com
    Network-Based Identification of Adaptive Pathways in Evolved Ethanol-Tolerant Bacterial Populations
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    academic.oup.com/mbe/article/34/11/2927/4096621
  88. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular, Pathological, Radiological, and Immune Profiling of Non-brainstem Pediatric High-Grade Glioma from the HERBY Phase II Randomized Trial
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    pmc.ncbi.nlm.nih.gov/articles/PMC5956280/
  89. Nov 2017
  90. academic.oup.com academic.oup.com
    Network-Based Identification of Adaptive Pathways in Evolved Ethanol-Tolerant Bacterial Populations
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    academic.oup.com/mbe/article/34/11/2927/4096621
  91. www.sciencedirect.com www.sciencedirect.com
    Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior
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    sciencedirect.com/science/article/pii/S0092867416311692
  92. www.sciencedirect.com www.sciencedirect.com
    Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
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    sciencedirect.com/science/article/pii/S0002929715004152