Ellen F. Macnamara - Concepedia

Author

Ellen F. Macnamara

Also Known As

Alexa T. McCray, Bryan Mak, Catherine A Groden, Catherine A. Groden, Denise J. Levy, E. MacNamara, E. Macnamara, Elizabeth L Fieg, Ellen F Macnamara, Ellen F. Macnamara

157

Publications

3.7K

Citations

H-Index

105

Concepts

All Affiliations

National Institutes of Health National Human Genome Research Institute Baylor College of Medicine Harvard University Office of the Director

About

Ellen F. Macnamara is an author at National Institutes of Health specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Education	2	2	118
2	Engineering	2	2	261
3	Language Studies	2	2	42
4	Arts	1	1	32
5	Health Sciences	1	1	20

Ellen F. Macnamara

Publications

2.6K

Citations

H-Index

Page 1

	Year	Citations
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome Julia Wang, Rami Al‐Ouran, Yanhui Hu, The American Journal of Human Genetics	2017	217
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease Rachel Ramoni, John J. Mulvihill, David R. Adams, The American Journal of Human Genetics Disease DiagnosisNetwork ScienceHealth InformaticsData ScienceData Mining	2017	181
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation Christina Lam, Carlos R. Ferreira, Donna M. Krasnewich, Genetics in Medicine Developmental BiologyGenetic DisorderGeneticsInherited Metabolic DiseasePathology	2016	145
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental AnomalyDevelopmental BiologySyndromic Neurodevelopmental DisorderMendelian Disorder	2016	118
IRF2BPL Is Associated with Neurological Phenotypes Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, The American Journal of Human Genetics NeurologyNeuroscienceMolecular NeurobiologyNeuropathologyMedicine	2018	108
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants Joanna Kennedy, David Goudie, Edward Blair, Genetics in Medicine Pathogenic Kat6a VariantsKat6a SyndromeGeneticsPathogenesisGenetic Epidemiology	2018	105
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Nature	2024	93
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay Keren Machol, Justine Rousseau, Sophie Ehresmann, The American Journal of Human Genetics	2018	88
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype Vandana Shashi, Loren D.M. Peña, Katherine Kim, The American Journal of Human Genetics Allelic VariantSystems BiologySomatic VariantGenetic DisorderGenetics	2016	86
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) Carlos R. Ferreira, Mary E. Hackbarth, Shira G. Ziegler, Genetics in Medicine NeonatologyCardiovascular DiseasePediatric Heart DiseaseMedicineArterial Reconstructions	2020	82

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