Sarah L. Ruppert - Concepedia

Author

Sarah L. Ruppert

Also Known As

Sarah L. Ruppert, Sarah Ruppert

Publications

193

Citations

H-Index

Concepts

All Affiliations

Sarah L. Ruppert is an author at National Institutes of Health specializing in medicine, pathology, and functional genomics.

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	132
2	Neurology	2	2	87
3	Cell Biology	1	1	45
4	Diabetes	1	1	45
5	Molecular Genetics	1	1	45

Sarah L. Ruppert

Publications

160

Citations

H-Index

Page 1

	Year	Citations
Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder Douglas R. Stewart, Hilde Brems, Alicia Gomes, Genetics in Medicine Type 1Molecular AnalysesNeurobiology Of DiseasePathologyJaffe–campanacci Syndrome	2013	50
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes Matthew G. Rees, David Ng, Sarah L. Ruppert, Journal of Clinical Investigation GeneticsGenetic EpidemiologyGenetic ContributionPathologyGlucose Homeostasis	2011	45
Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis Alexander Pemov, Heejong Sung, Paula L. Hyland, PLoS Genetics GeneticsPathologyDisease Gene IdentificationTumor BiologyMendelian Disorder	2014	37
Observations on intelligence and behavior in 15 patients with Legius syndrome Ellen Denayer, Mie‐Jef Descheemaeker, Douglas R. Stewart, American Journal of Medical Genetics Part C Seminars in Medical Genetics	2011	28

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