Nancy B. Spinner
Children's Hospital of Philadelphia(US)
Publications by Year
Research Areas
Pediatric Hepatobiliary Diseases and Treatments, Genomic variations and chromosomal abnormalities, Gallbladder and Bile Duct Disorders, Genomics and Rare Diseases, Congenital Anomalies and Fetal Surgery
Most-Cited Works
- → Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies(2010)2,854 cited
- → Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1(1997)1,281 cited
- → Mutations in the human Jagged1 gene are responsible for Alagille syndrome(1997)1,156 cited
- → KILLER/DR5 is a DNA damage–inducible p53–regulated death receptor gene(1997)1,073 cited
- → Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents(2015)891 cited
- → NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway(2006)737 cited