• Publications
  • Influence

Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage your publications. Semantic Scholar automatically creates author pages based on data aggregated from public sources and our publisher partners.
  • Nicola Brunetti-Pierri, Jonathan S Berg, +37 authors Ankita Patel
  • Medicine, Biology
  • Nature Genetics
  • 2008 (First Publication: 1 December 2008)
  • Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects,Expand
  • V. Reid Sutton, William H. McAlister, +7 authors Angela J. Villar
  • Biology, Medicine
  • Human Genetics
  • 2003 (First Publication: 1 October 2003)
  • Human paternal uniparental disomy for chromosome 14 (upd(14)pat) presents with skeletal abnormalities, joint contractures, dysmorphic facial features and developmental delay/mental retardation.Expand