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Showing 1–2 of 2 results
Advanced filters: Author: Sandhya Parkash Clear advanced filters

  • Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical outcomes for balanced rearrangements and provides insight into pathogenic mechanisms such as altered gene regulation due to changes in chromosome topology.

    • Claire Redin
    • Harrison Brand
    • Michael E Talkowski
    Research
    Nature Genetics
    Volume: 49, P: 36-45

  • Mark Samuels and colleagues report the identification of mutations in ORC4, which encodes a component of the origin recognition complex, in individuals with Meier-Gorlin syndrome. The features of this syndrome include small stature, small external ears and small or absent patellae.

    • Duane L Guernsey
    • Makoto Matsuoka
    • Mark E Samuels
    Research
    Nature Genetics
    Volume: 43, P: 360-364