Ian D. Krantz - Concepedia

Author

Ian D. Krantz

Children's Hospital of Philadelphia ORCID

Also Known As

Elizabeth Goldmuntz, Grisel, Olivier, I D Krantz, I Krantz, I. D. Krantz, I. Krantz, I.D. Krantz, Ian D Krantz, Ian D. Krantz, Ian D. Krantz (263649)

331

Publications

22.5K

Citations

H-Index

198

Concepts

All Affiliations

Children's Hospital of Philadelphia University of Pennsylvania Harvard University Boston Children's Hospital Baylor College of Medicine

About

Ian D. Krantz is an author at Children's Hospital of Philadelphia specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	42	75	8.9K
2	Arts	8	8	327
3	Engineering	3	3	52
4	Health Sciences	2	2	97
5	Education	1	1	16

Ian D. Krantz

155

Publications

14.6K

Citations

H-Index

Page 1

	Year	Citations
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
Rare Variants Create Synthetic Genome-Wide Associations Samuel P. Dickson, Kai Wang, Ian D. Krantz, PLoS Biology	2010	862
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
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio, Nature Genetics Genome InstabilityDevelopmental BiologyGenetic DisorderGeneticsLange Syndrome	2004	715
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
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
NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, The American Journal of Human Genetics Genotype-phenotype CorrelationsMendelian DisorderGenetic DisorderGeneticsLange Syndrome	2004	312
Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a <i>JAG1</i> Mutation and/or Alagille Syndrome Doff B. McElhinney, Ian D. Krantz, Lynn Bason, Circulation	2002	306
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation Kimberly A. Aldinger, Ordan J. Lehmann, Louanne Hudgins, Nature Genetics Neurobiology Of DiseaseDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics	2009	280
RAD21 Mutations Cause a Human Cohesinopathy Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, The American Journal of Human Genetics Rad21 Mutations CauseGenetic DisorderGeneticsPathologyDisease Gene Identification	2012	267

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