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Advanced filters: Author: Ashok Kumar Manickara Clear advanced filters
  • Matthew Hurles and colleagues report exome sequencing of 1,891 individuals with syndromic or nonsyndromic congenital heart defects (CHD). They found that nonsyndromic CHD patients were enriched for protein-truncating variants in CHD-associated genes inherited from unaffected parents and identified three new syndromic CHD disorders caused by de novo mutations.

    • Alejandro Sifrim
    • Marc-Phillip Hitz
    • Matthew E Hurles
    Research
    Nature Genetics
    Volume: 48, P: 1060-1065