Nancy B. Spinner - Concepedia

Author

Nancy B. Spinner

Children's Hospital of Philadelphia ORCID

Also Known As

Binita Kamath, Christensen, Kurt D., Chung, Wendy K., Kaufman, Dave, Kevin Meyers, N B Spinner, N Spinner, N. B. Spinner, N. Spinner, N.B. Spinner

308

Publications

24.4K

Citations

H-Index

183

Concepts

All Affiliations

Children's Hospital of Philadelphia University of Pennsylvania Hospital for Sick Children Boston Children's Hospital Philadelphia University

About

Nancy B. Spinner is an author at Children's Hospital of Philadelphia specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	43	72	9.5K
2	Health Sciences	4	4	508
3	Education	3	3	121
4	Engineering	2	2	29
5	Arts	1	1	39

Nancy B. Spinner

146

Publications

15.1K

Citations

H-Index

Page 1

	Year	Citations
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 Linheng Li, Ian D. Krantz, Yu Deng, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsPathogenesisPathology	1997	1.3K
Mutations in the human Jagged1 gene are responsible for Alagille syndrome Takaya Oda, Abdel Elkahloun, Brian L. Pike, Nature Genetics Mendelian DisorderHuman Jagged1 GeneGenetic DisorderGeneticsPathogenesis	1997	1.2K
NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara, The American Journal of Human Genetics Developmental BiologyGenetic DisorderHeterogeneous DisorderGeneticsMolecular Genetics	2006	728
Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz, Hepatology	1999	660
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann, Human Molecular Genetics CytogeneticsGeneticsHuman PolymorphismMolecular GeneticsEmbryology	2010	496
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. Perín, Genome Research	2009	389
Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome Deborah A. Driscoll, Nancy B. Spinner, Marcia L. Budarf, American Journal of Medical Genetics GeneticsGenetic EpidemiologyPathologyMolecular GeneticsCongenital Heart Anomaly	1992	387
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier Glen Seidner, Marcela Garcia Alvarez, Jih‐I Yeh, Nature Genetics Clinical DisordersHeme HomeostasisInherited Metabolic DiseaseImmunologyHematology	1998	374
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between Gail P. Jarvik, Laura M. Amendola, Jonathan S. Berg, The American Journal of Human Genetics Genomic ResultsGenetic TestingResearch ParticipantsGeneticsStatistical Genetics	2014	368
Actionable exomic incidental findings in 6503 participants: challenges of variant classification Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson, Genome Research Genome-wide Association StudyEpidemiologySequencingExome SequencingGenetics	2015	356

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