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 1–20 of 20 results
Advanced filters: Author: Mane Williams Clear advanced filters

  • The authors analyze rare coding variants in 1990 individuals with congenital kidney anomalies, finding diagnostic variants in 14.1% of cases. They identify two new causal genes, ARID3A and NR6A1, along with 38 candidate genes, providing evidence for shared genetics with other developmental disorders.

    • Hila Milo Rasouly
    • Sarath Babu Krishna Murthy
    • Ali G. Gharavi
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-16

  • Explosive growth is attributed to the BCR::ABL1 gene 3–14 years before diagnosis of chronic myeloid leukaemia, highlighting the oncogenic potency of gene fusion and the slow and sequential trajectories of most other cancers.

    • Aleksandra E. Kamizela
    • Daniel Leongamornlert
    • Jyoti Nangalia
    ResearchOpen Access
    Nature
    Volume: 640, P: 982-990

  • Dimethyl fumarate (DMF) is an anti-inflammatory drug proposed as a treatment for COVID19. Here the results are reported from a randomised trial testing DMF treatment in 713 patients hospitalised with COVID-19. DMF was not associated with any improvement in day 5 outcomes.

    • Peter Sandercock
    • Janet Darbyshire
    • Martin J. Landray
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-13

  • Pretrained using over 100,000 diagnostic histopathological slides across 20 major tissue types, a self-supervised model is shown to outperform existing baselines across various clinically relevant computational pathology tasks.

    • Richard J. Chen
    • Tong Ding
    • Faisal Mahmood
    Research
    Nature Medicine
    Volume: 30, P: 850-862

  • Vein of Galen malformations (VOGMs) are severe congenital brain arteriovenous malformations. Here the authors work to elucidate the pathogenesis of VOGMs by performing an integrated analysis of 310 VOGM proband family exomes and 336,326 human cerebrovasculature single-cell transcriptomes to identify mutations of key signaling regulators.

    • Shujuan Zhao
    • Kedous Y. Mekbib
    • Kristopher T. Kahle
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-23

  • Deep learning applied to endomyocardial biopsy images, developed using datasets from three different countries, can detect rejection of transplanted hearts and determine the subtype and grade of rejection, with potential for reducing the interobserver variability inherent in manual interpretation of these biopsies.

    • Jana Lipkova
    • Tiffany Y. Chen
    • Faisal Mahmood
    Research
    Nature Medicine
    Volume: 28, P: 575-582

  • How accurate are social scientists in predicting societal change, and what processes underlie their predictions? Grossmann et al. report the findings of two forecasting tournaments. Social scientists’ forecasts were on average no more accurate than those of simple statistical models.

    • Igor Grossmann
    • Amanda Rotella
    • Tom Wilkening
    Research
    Nature Human Behaviour
    Volume: 7, P: 484-501

  • The International Strawberry Sequencing Consortium reports the draft genome of the woodland strawberry (Fragaria vesca). The genome of this diploid species should serve as a reference genome for the Fragaria genus, as the cultivated strawberry (Fragaria × ananassa) is an octoploid where F. vesca is predicted to be a subgenome donor.

    • Vladimir Shulaev
    • Daniel J Sargent
    • Kevin M Folta
    ResearchOpen Access
    Nature Genetics
    Volume: 43, P: 109-116

  • Better analytical methods are needed to extract biological meaning from genome-wide association studies (GWAS) of psychiatric disorders. Here the authors take GWAS data from over 60,000 subjects, including patients with schizophrenia, bipolar disorder and major depression, and identify common etiological pathways shared amongst them.

    • Colm O'Dushlaine
    • Lizzy Rossin
    • Gerome Breen
    Research
    Nature Neuroscience
    Volume: 18, P: 199-209

  • Exome sequencing of patients with congenital heart disease (CHD) and their unaffected parents reveals an excess of strong-effect, protein-altering de novo mutations in genes expressed in the developing heart, many of which regulate chromatin modification in key developmental genes; collectively, these mutations are predicted to account for approximately 10% of severe CHD cases.

    • Samir Zaidi
    • Murim Choi
    • Richard P. Lifton
    Research
    Nature
    Volume: 498, P: 220-223

  • Richard Lifton and colleagues identify somatic and germline mutations in the CACNA1D calcium channel gene in aldosterone-producing adenomas and primary aldosteronism. Their functional studies show that these mutations result in channel activation at more hyperpolarized membrane potentials, implicating increased Ca2+ influx in disease pathogenesis.

    • Ute I Scholl
    • Gerald Goh
    • Richard P Lifton
    Research
    Nature Genetics
    Volume: 45, P: 1050-1054

  • Richard Lifton, Véronique Frémeaux-Bacchi and colleagues report that recessive mutations in DGKE cause atypical hemolytic-uremic syndrome with an early age of onset progressing to chronic kidney disease. The authors propose that loss of DGKE results in a prothrombotic state that underlies disease pathogenesis.

    • Mathieu Lemaire
    • Véronique Frémeaux-Bacchi
    • Richard P Lifton
    Research
    Nature Genetics
    Volume: 45, P: 531-536

  • The developmental Genotype-Tissue Expression (dGTEx) projects will catalogue and integrate gene expression, regulation and genetics data across 120 human donors from birth to adulthood with developmentally matched non-human primates, including 126 rhesus macaques and 72 common marmosets.

    • Tim H. H. Coorens
    • Amy Guillaumet-Adkins
    • Sige Zou
    Reviews
    Nature
    Volume: 637, P: 557-564

  • Naomi Wray and colleagues report an analysis of genome-wide association data sets from the Psychiatric Genomics Consortium for five psychiatric disorders. They find that common variation explains 17–29% of the variance in liability and provide further support for a shared genetic etiology for these related psychiatric disorders.

    • S Hong Lee
    • Stephan Ripke
    • Naomi R Wray
    Research
    Nature Genetics
    Volume: 45, P: 984-994