Erik G. Puffenberger

Author

Also Known As

Bodrug, Tatyana, E G Puffenberger, E Puffenberger, E. G. Puffenberger, E. Puffenberger, E.G. Puffenberger, EG Puffenberger, Emily Qian, Eric Puffenberger, Eric G. Puffenberger

137

Publications

11.4K

Citations

H-Index

166

Concepts

All Affiliations

Clinic for Special Children Franklin & Marshall College Lancaster General Hospital Alfred I. duPont Hospital for Children Johns Hopkins University

About

Erik G. Puffenberger is an author at Clinic for Special Children specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	36	48	8K
2	Public Health	10	10	1.1K
3	Social Sciences	5	5	903
4	Health Sciences	3	3	517
5	Natural Sciences	3	3	300

Erik G. Puffenberger

Publications

10.8K

Citations

H-Index

Page 1

	Year	Citations
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Harry C. Dietz, Carry Cutting, Reed E. Pyeritz, Nature Marfan SyndromeMendelian DisorderGenetic DisorderGeneticsPathogenesis	1991	2K
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease Erik G. Puffenberger, Kiminori Hosoda, Sarah S. Washington, Cell Mendelian DisorderGenetic DisorderGeneticsPathogenesisMultigenic Hirschsprung	1994	893
Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2 Kevin A. Strauss, Erik G. Puffenberger, Matthew J. Huentelman, New England Journal of Medicine GeneticsNeurotransmissionSocial SciencesAggressive BehaviorMendelian Disorder	2006	624
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT Victoria Carlton, Baruch Z. Harris, Erik G. Puffenberger, Nature Genetics Genetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyAssociated Mutations	2003	324
Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients D. Holmes Morton, Kevin A. Strauss, Erik G. Puffenberger, PEDIATRICS	2002	321
Type I glutaric aciduria, part 1: Natural history of 77 patients Kevin A. Strauss, Erik G. Puffenberger, D. Holmes Morton American Journal of Medical Genetics Part C Seminars in Medical Genetics Glomerular DiseaseNeurological DisorderPathologyCerebrovascular DiseaseCerebral Vascular Regulation	2003	320
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez, PLoS ONE GeneticsFive Novel DiseasesGenetic EpidemiologyPathologyDisease Gene Identification	2012	303
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease Minerva M. Carrasquillo, Andrew S. McCallion, Erik G. Puffenberger, Nature Genetics Genome-wide Association StudyGenetic DisorderGeneticsGene CharacterizationMolecular Genetics	2002	289
Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I Huiling He, Sandya Liyanarachchi, Keiko Akagi, Science	2011	255
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22 Erik G. Puffenberger, Erick Kauffman, Stacey Bolk, Human Molecular Genetics	1994	243

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