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Showing 1–7 of 7 results
Advanced filters: Author: Amy B. Wilfert Clear advanced filters

  • For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

    • Tianyun Wang
    • Kendra Hoekzema
    • Evan E. Eichler
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-13

  • High-coverage, ultra-long-read nanopore sequencing is used to create a new human genome assembly that improves on the coverage and accuracy of the current reference (GRCh38) and includes the gap-free, telomere-to-telomere sequence of the X chromosome.

    • Karen H. Miga
    • Sergey Koren
    • Adam M. Phillippy
    ResearchOpen Access
    Nature
    Volume: 585, P: 79-84

  • Analysis of whole-genome sequence data from 3,474 families finds an excess of private, likely gene-disrupting variants in individuals with autism. These variants are under purifying selection and suggest candidate genes not previously associated with autism.

    • Amy B. Wilfert
    • Tychele N. Turner
    • Evan E. Eichler
    Research
    Nature Genetics
    Volume: 53, P: 1125-1134

  • Analysis of chromatin state at a single-cell level in samples of developing human forebrain demonstrate both cell-type-specific and region-specific changes during neurogenesis.

    • Ryan S. Ziffra
    • Chang N. Kim
    • Tomasz J. Nowakowski
    ResearchOpen Access
    Nature
    Volume: 598, P: 205-213

  • Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that rols, the TANC2 homolog in flies, is required for synapse growth and function.

    • Hui Guo
    • Elisa Bettella
    • Evan E. Eichler
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-17

  • Donald Conrad and colleagues present a method, PSAP, for prioritizing potential Mendelian disease-causing variants in single human exomes using pathogenicity scores and observed allele frequencies in the unaffected population. They apply PSAP to cohorts of undiagnosed disease exomes and identify candidate disease variants for future study.

    • Amy B Wilfert
    • Katherine R Chao
    • Donald F Conrad
    Research
    Nature Genetics
    Volume: 48, P: 1455-1461