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Nancy B. Spinner | Researchclopedia

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Nancy B. Spinner

Children's Hospital of Philadelphia ORCID

308

Works

24,556

Citations

76

h-index

184

i10-index

Research Topics

Pediatric Hepatobiliary Diseases and Treatments Genomic variations and chromosomal abnormalities Gallbladder and Bile Duct Disorders

Affiliations

Tokyo Institute of Technology2010–2010

Greater Baltimore Medical Center2010–2010

Lurie Children's Hospital2004–2004

Salk Institute for Biological Studies1999–1999

Apple (Israel)2022–2022

Top Works

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller,Margaret P Adam,et al.

20102,855 citations

Genomics and Rare Diseases

Congenital Anomalies and Fetal Surgery

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li,Ian D. Krantz,et al.

19971,281 citations

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Takaya Oda,Abdel Elkahloun,et al.

19971,156 citations

KILLER/DR5 is a DNA damage–inducible p53–regulated death receptor gene

Gen Sheng Wu,Timothy F. Burns,et al.

19971,073 citations

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

Jeffrey R. Botkin,John W. Belmont,et al.

2015892 citations

NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

Ryan M. McDaniell,Daniel M. Warthen,et al.

2006737 citations

Microduplications of 16p11.2 are associated with schizophrenia

Shane McCarthy,Vladimir Makarov,et al.

2009732 citations

Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

Karan M. Emerick,Elizabeth B. Rand,et al.

1999662 citations

A genomic view of mosaicism and human disease

Leslie G. Biesecker,Nancy B. Spinner

2013615 citations