Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–9 of 9 results
Advanced filters: Author: Anne Goriely Clear advanced filters

  • By mining large-population genetic data sets, researchers identify the key factors controlling menopause timing, and reveal a close connection between reproductive longevity, cancer risk and new mutations in children.

    • Anne Goriely
    News & Views
    Nature
    Volume: 633, P: 530-531

  • The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.

    • Yuyang Chen
    • Ruebena Dawes
    • Nicola Whiffin
    ResearchOpen Access
    Nature
    Volume: 632, P: 832-840

  • Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo mutations (DNMs) that arose in 816 family trios provides an unprecedented view into the landscape of DNMs in the germ line. This work both refines and challenges some of the views previously held on the nature and origin of DNMs.

    • Anne Goriely
    News & Views
    Nature Genetics
    Volume: 48, P: 823-824

  • Mutations accumulate with age in the male germline, and can lead to genetic diseases in offspring. Here, the authors collect from individuals sequential sperm samples separated by long timespans, which they profile by high-fidelity sequencing to study germline mutation processes.

    • Jonathan E. Shoag
    • Amoolya Srinivasa
    • Gilad D. Evrony
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-13

  • Gilean McVean and colleagues report the results of a large-scale clinical genome sequencing project spanning a broad spectrum of disorders. They identify factors influencing successful genetic diagnosis and highlight the challenges of interpreting findings for genetically heterogeneous disorders.

    • Jenny C Taylor
    • Hilary C Martin
    • Gilean McVean
    Research
    Nature Genetics
    Volume: 47, P: 717-726

  • Andrew Wilkie and colleagues report that activating paternal-effect mutations in FGFR3 and HRAS promote clonal expansion in the testis, leading to spermatocytic seminomas. The same mutation in FGFR3 leads to the lethal disorder thanatophoric dysplasia, revealing a shared genetic mechanism for congenital disorders and testicular tumors.

    • Anne Goriely
    • Ruth M S Hansen
    • Andrew O M Wilkie
    Research
    Nature Genetics
    Volume: 41, P: 1247-1252