Research Topics

Amy E Roberts

Summary

Affiliation: Children's Hospital
Country: USA

Publications

  1. doi request reprint Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield
    Juan Geng
    Department of Laboratory Medicine, Shanghai Children s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
    BMC Genomics 15:1127. 2014
  2. pmc Noonan syndrome
    Amy E Roberts
    Department of Cardiology and Division of Genetics, Children s Hospital Boston, Boston, MA 02115, USA
    Lancet 381:333-42. 2013

Collaborators

  • Marco Tartaglia
  • Juan Geng
  • David T Miller
  • Mary P Mullen
  • Joan Stoler
  • Yiping Shen
  • Qihua Fu
  • David Harris
  • Fuki Hisama
  • Xiaoqing Zhang
  • Ann Seman
  • David W Brown
  • Zhaojing Zheng
  • Jian Wang
  • Jonathan Picker

Detail Information

Publications2

  1. doi request reprint Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield
    Juan Geng
    Department of Laboratory Medicine, Shanghai Children s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
    BMC Genomics 15:1127. 2014
    ..Furthermore, genes encompassed in pathogenic/likely pathogenic CNVs were prioritized by integrating several tools and public data sources for novel CHD candidate gene identification...
  2. pmc Noonan syndrome
    Amy E Roberts
    Department of Cardiology and Division of Genetics, Children s Hospital Boston, Boston, MA 02115, USA
    Lancet 381:333-42. 2013
    ..Several clinically relevant genotype-phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments...