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Journal of Genetic Counseling|January 19, 2024
Genetic counseling for congenital disorders of glycosylation (CDG)Tara Weixel, Lynne Wolfe, Ellen F MacnamaraTranslational Science of Rare Diseases|June 2, 2020
The undiagnosed diseases program: Approach to diagnosisEllen F Macnamara, Precilla D'Souza, , et al.Orphanet Journal of Rare Diseases|January 9, 2023
Continuing a search for a diagnosis: the impact of adolescence and family dynamicsIlana M Miller, Beverly M Yashar, , et al.Journal of Genetic Counseling|January 6, 2026
Exploring the principles of logotherapy in genetic counseling: Enhancing decision-making, adaptation, and justiceNour Chanouha, Anna Chassevent, Ellen F Macnamara, et al.Molecular Genetics & Genomic Medicine|May 7, 2021
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling ConundrumBeattie R H Sturrock, Ellen F Macnamara, Peter McGuire, et al.Journal of Genetic Counseling|January 26, 2019
Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic eraEllen F Macnamara, Kelly Schoch, Emily Glanton, et al.Molecular Genetics & Genomic Medicine|November 7, 2020
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literatureLaura E Meissner, Ellen F Macnamara, Precilla D'Souza, et al.Channels (Austin, Tex.)|August 11, 2025
BK channel activity in skin fibroblasts from patients with neurological disorderRia L Dinsdale, Thomas R Middendorf, Deborah Disilvestre, et al.Scientific Reports|June 2, 2022
Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorderBenjamin J Grosso, Audra A Kramer, Sidharth Tyagi, et al.Neuromuscular Disorders : NMD|February 12, 2023
MYH2-associated myopathy caused by a novel splice-site variantThomas A Cassini, May Christine V Malicdan, Ellen F Macnamara, et al.Pageof 3