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D-Index & Metrics

Genetics

D-Index
80
Citations
27248
World Ranking
1571
National Ranking
730

Medicine

D-Index
82
Citations
27796
World Ranking
15997
National Ranking
8050

Overview

Nancy B. Spinner is affiliated with the Children's Hospital of Philadelphia in the United States. The primary fields of study associated with their research include Medicine and Biochemistry, Genetics and Molecular Biology. Their work extends into subfields such as Genetics, Surgery, Pulmonary and Respiratory Medicine, Molecular Biology, and Pediatrics, Perinatology and Child Health.

The scientist's research topics cover areas including Pediatric Hepatobiliary Diseases and Treatments, Genomics and Rare Diseases, Gallbladder and Bile Duct Disorders, Genomic variations and chromosomal abnormalities, Pancreatic and Hepatic Oncology Research, BRCA gene mutations in cancer, and Congenital Anomalies and Fetal Surgery.

Frequent co-authors collaborating with Nancy B. Spinner include Laura K. Conlin, Kathleen M. Loomes, Matthew C. Dulik, David A. Piccoli, and Melissa A. Gilbert.

The most common publication venues where their work appears are UNC Libraries, Genetics in Medicine, Human Mutation, Genetics in Medicine Open, and The Journal of Pediatrics.

Recent published papers by Nancy B. Spinner include:

  • A six-attribute classification of genetic mosaicism, 2020, Genetics in Medicine
  • Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study, 2020, Hepatology Communications
  • Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study, 2022, Hepatology
  • Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution, 2020, Frontiers in Pediatrics
  • Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease, 2020, Human Mutation

Best Publications

  • 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;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker

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

    Linheng Li;Ian D. Krantz;Yu Deng;Yu Deng;Anna Genin

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

    G. S. Wu;T. F. Burns;E. R. McDonald;W. Jiang

  • Mutations in the human Jagged1 gene are responsible for Alagille syndrome

    Takaya Oda;Abdel G. Elkahloun;Brian L. Pike;Kazuki Okajima

  • Microduplications of 16p11.2 are Associated with Schizophrenia

    Shane E. McCarthy;Vladimir Makarov;George Kirov;Anjene M. Addington

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

    Ryan McDaniell;Daniel M. Warthen;Pedro A. Sanchez-Lara;Athma Pai

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

    Jeffrey R. Botkin;John W. Belmont;Jonathan Sanford Berg;Benjamin E. Berkman

  • Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

    Karan M. Emerick;Elizabeth B. Rand;Elizabeth Goldmuntz;Ian D. Krantz

  • A genomic view of mosaicism and human disease

    Leslie G. Biesecker;Nancy B. Spinner

  • Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

    Laura K. Conlin;Brian D. Thiel;Carsten G. Bonnemann;Livija Medne

  • Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

    Deborah A. Driscoll;Nancy B. Spinner;Nancy B. Spinner;Marcia L. Budarf;Marcia L. Budarf;Donna M. McDonald-McGinn;Donna M. McDonald-McGinn

  • GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

    Glen Seidner;Marcela Garcia Alvarez;Jih-I Yeh;Kevin R. O'Driscoll

  • High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

    Tamim H. Shaikh;Xiaowu Gai;Juan C. Perin;Joseph T. Glessner

  • Actionable exomic incidental findings in 6503 participants: challenges of variant classification

    Laura M. Amendola;Michael O. Dorschner;Peggy D. Robertson;Joseph S. Salama

  • Notch signaling in human development and disease

    Andrea L. Penton;Laura D. Leonard;Nancy B. Spinner

  • Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.

    Binita M. Kamath;Nancy B. Spinner;Karan M. Emerick;Albert E. Chudley

  • Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a JAG1 Mutation and/or Alagille Syndrome

    Doff B. McElhinney;Ian D. Krantz;Lynn Bason;David A. Piccoli

  • Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

    Jinglan Liu;Zhe Zhang;Masashige Bando;Takehiko Itoh

  • Jagged1 mutations in Alagille syndrome

    Nancy B. Spinner;Raymond P. Colliton;Cécile Crosnier;Ian D. Krantz

  • Erratum: Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents (The American Journal of Human Genetics (2015) 97 (6-21))

    Jeffrey R. Botkin;John W. Belmont;Jonathan S. Berg;Benjamin E. Berkman

Frequent Co-Authors

Ian D. Krantz
Ian D. Krantz Children's Hospital of Philadelphia
Elaine H. Zackai
Elaine H. Zackai Children's Hospital of Philadelphia
Matthew A. Deardorff
Matthew A. Deardorff Children's Hospital of Philadelphia
Marcella Devoto
Marcella Devoto University of Pennsylvania
Heidi L. Rehm
Heidi L. Rehm Brigham and Women's Hospital
Hakon Hakonarson
Hakon Hakonarson Children's Hospital of Philadelphia
Donna M. McDonald-McGinn
Donna M. McDonald-McGinn Children's Hospital of Philadelphia
Tamim H. Shaikh
Tamim H. Shaikh University of Colorado Denver
Beverly S. Emanuel
Beverly S. Emanuel Children's Hospital of Philadelphia
Jonathan S. Berg
Jonathan S. Berg University of North Carolina at Chapel Hill

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