Concepedia
Statistics
Publications
54
Citations
2.6K
H-Index
29
Active since
1969
Affiliations
National Institutes of Health(Current)
National Human Genome Research Institute
Baylor College of Medicine
Harvard University
Office of the Director
Ellen F. Macnamara is an author at National Institutes of Health specializing in medicine, genetics, and pathology.
Top concepts
MedicineGeneticsPathologyDevelopmental BiologyNeuroscienceNeurogeneticsNeuropathologyGenetic EpidemiologyNeurologySocial Sciences
Publications per year
1969–2024
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 181 citations · Full text
Disease Diagnosis, Network Science, Health Informatics +12
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
Christina Lam, Carlos R. Ferreira, Donna M. Krasnewich et al. · Genetics in Medicine · 2016 · 145 citations · Full text
Developmental Biology, Genetic Disorder, Genetics +6
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke et al. · The American Journal of Human Genetics · 2016 · 118 citations · Full text
Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +11
IRF2BPL Is Associated with Neurological Phenotypes
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 108 citations · Full text
Neurology, Neuroscience, Molecular Neurobiology +4
Rows per page
1–5 of 54