Ellen Macnamara
17PUBLICATIONS
181CO-AUTHORS
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Publications (17)
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|Mar 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.Zoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel
|Jan 06, 2026
Exploring the principles of logotherapy in genetic counseling: Enhancing decision-making, adaptation, and justice.Nour Chanouha, Anna Chassevent, Ellen F Macnamara
|Aug 11, 2025
BK channel activity in skin fibroblasts from patients with neurological disorder.Ria L Dinsdale, Thomas R Middendorf, Deborah Disilvestre
|Jul 23, 2025
Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program.Dee Adedipe, Audrey Thurm, Lisa Joseph
|Jul 02, 2025
An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report.Zoe Wolfenson, Daniel Benavides, Connor J Lewis
|Apr 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
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Frequent Collaborators
5 joint publications
William Gahl
5 joint publications
Cynthia Tifft
5 joint publications
Lynne Wolfe
3 joint publications
Audrey Thurm
2 joint publications
David R Adams
2 joint publications
Zoe Wolfenson
2 joint publications
Lisa Joseph
2 joint publications
Wadih M Zein
2 joint publications
Ariane Soldatos
2 joint publications
May Christine V Malicdan
