Amy E Roberts
Affiliation: Children's Hospital
- Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yieldJuan 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...
- Noonan syndromeAmy 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...