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  1. 2481
    “…BACKGROUND: Mutational signatures are specific patterns of somatic mutations introduced into the genome by oncogenic processes. …”
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    SigsPack, a package for cancer mutational signatures
  2. 2482
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    Reply to: “Hidradenitis suppurativa and Mediterranean fever gene mutations”
  3. 2483
    “…Classical driver mutations in acute myeloid leukemia (AML) typically affect regulators of cell proliferation, differentiation, and survival. …”
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    Towards a Better Understanding of Cohesin Mutations in AML
  4. 2484
    “…We further discuss the potential biological mechanisms underlying somatic mutations in the brain as well as the technical issues associated with the detection of somatic mutations in psychiatric research.…”
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    Somatic mutations in the human brain: implications for psychiatric research
  5. 2485
    “…In Brazil, knowledge on the CRC mutation landscape is limited. Here, we investigated the mutation profile of 150 cancer-related genes by next-generation sequencing and associated with microsatellite instability (MSI) and genetic ancestry in a series of 91 Brazilian CRC patients. …”
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    Mutation profiling of cancer drivers in Brazilian colorectal cancer
  6. 2486
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    Recurrent histone mutations in T‐cell acute lymphoblastic leukaemia
  7. 2487
    “…NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. …”
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    One NF1 Mutation may Conceal Another
  8. 2488
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    Delineating the expanding phenotype associated with SCAPER gene mutation
  9. 2489
    “…We applied GoT to study how somatic mutations corrupt the complex process of human hematopoiesis, profiling 38,290 CD34(+) cells from patients with CALR-mutated myeloproliferative neoplasms (MPN). …”
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    Genotyping of Transcriptomes links somatic mutations and cell identity
  10. 2490
    “…Recently available cancer sequencing data have revealed a complex view of the cancer genome containing a multitude of mutations, including drivers responsible for cancer progression and neutral passengers. …”
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    On measuring selection in cancer from subclonal mutation frequencies
  11. 2491
    “…Duchenne muscular dystrophy is caused by loss-of-function mutations, most commonly deletions, within the DMD gene. …”
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    Breakpoint junction features of seven DMD deletion mutations
  12. 2492
    por Finsterer, Josef
    Publicado 2019
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    Commentary: Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
  13. 2493
    “…In these MCRs, we defined functional (some pathogenic), novel, and rare mutations that segregated as homozygous in affected and heterozygous in unaffected family members. …”
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    Uveitis and Multiple Sclerosis: Potential Common Causal Mutations
  14. 2494
    por Taylor, Justin, Lee, Stanley C.
    Publicado 2019
    “…The recent identification of frequent somatic mutations in core components of the spliceosome in myeloid malignancies and functional analysis using model systems has advanced our knowledge of how splicing alterations contribute to disease pathogenesis. …”
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    Mutations in spliceosome genes and therapeutic opportunities in myeloid malignancies
  15. 2495
    “…In this context, BRAF mutations are found in about 10% of CRC patients and define a particular subtype, characterized by a dismal prognosis, with a median survival of less than 12 months. …”
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    BRAF-Mutated Colorectal Cancer: Clinical and Molecular Insights
  16. 2496
    por Milatz, Susanne
    Publicado 2019
    “…This review summarizes and compares the recently published studies reporting on a novel autosomal-recessive disorder based on claudin-10 mutations.…”
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    A Novel Claudinopathy Based on Claudin-10 Mutations
  17. 2497
    “…We targeted American College of Medical Genetics incidental finding recommended genes and the Catalogue of Somatic Mutations in Cancer (COSMIC) germline cancer-related genes. …”
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    Differential analysis of mutations in the Jewish population and their implications for diseases
  18. 2498
    “…Mutations, recombinations, and genome duplications may promote genetic diversity and trigger evolutionary processes. …”
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    Accurate Tracking of the Mutational Landscape of Diploid Hybrid Genomes
  19. 2499
    por Nguyen Ho, Lam, Le, Thuong Vu
    Publicado 2019
    “…A predictive model using available chest CT images could better assess the presence of EGFR mutations. This model may also identify biopsy false-negative results. http://bit.ly/2MROmpe…”
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    Model for predicting EGFR mutation status in lung cancer
  20. 2500
    por Dubrova, Yuri
    Publicado 2019
    “…The analysis of mutation induction in human families exposed to mutagens provides the only source of reliable estimates of factors contributing to the genetic risk of human exposure to mutagens. …”
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    Mutation Induction in Humans and Mice: Where Are We Now?
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