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Showing 1–14 of 14 results
Advanced filters: Author: Michael Ronemus Clear advanced filters

  • Family-based exome sequencing in a large autism study has identified 27 high-confidence gene targets and accurately estimates the contribution of both de novo gene-disrupting and missense mutations to the incidence of simplex autism, with target genes in affected females overlapping those in males of lower but not higher IQ; targets also overlap known targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes.

    • Ivan Iossifov
    • Brian J. O’Roak
    • Michael Wigler
    Research
    Nature
    Volume: 515, P: 216-221

    • Michael Ronemus
    News & Views
    Nature Genetics
    Volume: 23, P: 132

    • Michael Ronemus
    News & Views
    Nature Medicine
    Volume: 6, P: 503

    • Michael Ronemus
    News & Views
    Nature Medicine
    Volume: 6, P: 19

  • Yoon, Munoz, et al. investigate the rate of de novo coding and non-coding variants in families with high- and low-risk for autism using whole-genome sequence data from collections of families with autism. They demonstrate that de novo intronic variants increase the risk of autism, that the contribution of de novo variants is significantly larger in low-risk families, and that de novo variants contribute to 30-39% of cases of all autism.

    • Seungtai Yoon
    • Adriana Munoz
    • Ivan Iossifov
    ResearchOpen Access
    Communications Biology
    Volume: 4, P: 1-10

  • In the past few years, there have been rapid advances in the identification of the genetic components of autism spectrum disorders, particularly in the form ofde novomutations. Here, the authors review these developments in light of genetic models for autism spectrum disorders.

    • Michael Ronemus
    • Ivan Iossifov
    • Michael Wigler
    Reviews
    Nature Reviews Genetics
    Volume: 15, P: 133-141

  • Tiny RNA molecules called microRNAs are important in development, and are thought to function by causing the degradation of matching messenger RNAs. That may not be their only mode of action, however.

    • Michael Ronemus
    • Rob Martienssen
    News & Views
    Nature
    Volume: 433, P: 472-473

    • Michael Ronemus
    Advertorial
    Nature Genetics
    Volume: 23, P: 479

  • Fang et al. describe a computational protocol to accurately call indels from whole-genome and whole-exome sequencing data using Scalpel. Important issues for indel identification, such as short repeat regions and varying sequencing coverage, are discussed.

    • Han Fang
    • Ewa A Bergmann
    • Giuseppe Narzisi
    Protocols
    Nature Protocols
    Volume: 11, P: 2529-2548

  • Although it is known that tumours are genetically heterogeneous it has so far been difficult to dissect this heterogeneity at a single cell level. This paper combines whole-genome amplification and next-generation sequencing of flow-sorted nuclei from breast tumours to investigate their population structure and evolution. In contrast to gradual models of tumour progression, the results indicate that tumours grow by punctuated clonal expansions with few persistent intermediates.

    • Nicholas Navin
    • Jude Kendall
    • Michael Wigler
    Research
    Nature
    Volume: 472, P: 90-94