Alan E. Guttmacher - Concepedia

Author

Alan E. Guttmacher

Also Known As

A E Guttmacher, A. E. Guttmacher, A. Guttmacher, A.E. Guttmacher, Alan E Guttmacher, Alan E. Guttmacher, Alan Guttmacher, Flannery, David B., Mary Haddad, Eric Lander

Publications

23.7K

Citations

H-Index

138

Concepts

All Affiliations

National Institutes of Health University of Vermont National Human Genome Research Institute Duke Medical Center Eunice Kennedy Shriver National Institute of Child Health and Human Development

About

Alan E. Guttmacher is an author at National Institutes of Health specializing in medicine, genetics, and public health.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Education	2	2	70
2	Health Sciences	2	2	62
3	Business	1	1	13
4	Engineering	1	1	146
5	Management	1	1	13

Alan E. Guttmacher

Publications

11.7K

Citations

H-Index

Page 1

	Year	Citations
A vision for the future of genomics research Francis S. Collins, Eric D. Green, Alan E. Guttmacher, Nature Functional GenomicsNext-generation SequencingGeneticsComputational GenomicsComputational Biology	2003	1.7K
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) Claire L. Shovlin, Alan E. Guttmacher, Elisabetta Buscarini, American Journal of Medical Genetics	2000	1.7K
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 Kimberly A. McAllister, K.M. Grogg, David W. Johnson, Nature Genetics Endothelial Cell PathobiologyVascular DiseaseDevelopmental BiologyAngiogenesisEndothelial Cells	1994	1.5K
Replicating genotype–phenotype associations Stephen J. Chanock, Teri A. Manolio, Michael Boehnke, Nature Genome-wide Association StudyGenotype–phenotype AssociationsLinkage DisequilibriumPhenotypic VariationGenotype-phenotype Association	2007	1.3K
Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 David W. Johnson, Jonathan Berg, Melanie A. Baldwin, Nature Genetics Activin Receptor–likeDevelopmental BiologySignal TransductionGenetic DisorderGenetics	1996	1.1K
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia Marie E. Faughnan, Valerie A. Palda, Guadalupe García–Tsao, Journal of Medical Genetics	2009	1.1K
The Family History — More Important Than Ever Alan E. Guttmacher, Francis S. Collins, Richard Carmona New England Journal of Medicine Family MedicineGenetic TestingGeneticsFamily HistoryGood Family History	2004	501
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Maximilian Muenke, Karen W. Gripp, Donna M. McDonald‐McGinn, PubMed	1997	394
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsGenetic Epidemiology	2005	276
The Human Placenta Project: Placental structure, development, and function in real time Alan E. Guttmacher, Yvonne T. Maddox, C. Y. Spong Placenta Developmental BiologyFertilityPlacental DevelopmentPlacental StructureReal Time	2014	261

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