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Advanced filters: Author: "David R Fitzpatrick" Clear advanced filters
  • Two new loci for premature fusion of the cranial sutures in humans suggest a common endpoint in osteoblast regulation, linking upregulation of phosphorylated ERK1/2 and TWIST1 haploinsufficiency.

    • David R FitzPatrick
    News & Views
    Nature Genetics
    Volume: 45, P: 231-232
  • An international collaboration has assembled DNA samples and detailed phenotypic information from >13,000 individuals with a clinical diagnosis of either autism spectrum disorder (ASD) or intellectual disability/developmental delay (ID/DD). The application of molecular inversion probe technologies to sequence 208 candidate genes at scale in this impressive resource has identified a large set of plausibly causative mutations for these disorders.

    • David R FitzPatrick
    News & Views
    Nature Genetics
    Volume: 49, P: 488-489