Ellen F. Macnamara
National Human Genome Research Institute(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA regulation and disease, RNA Research and Splicing
Most-Cited Works
- → Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation(2016)145 cited
- → KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants(2018)108 cited
- → De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome(2024)100 cited
- → Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)(2020)84 cited
- → A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation(2018)71 cited
- → Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features(2018)70 cited
- → Late Cypriot Imports to Italy and their Influence on Local Bronzework(1985)68 cited
- → Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing(2019)67 cited
- → De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders(2018)59 cited
- → De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features(2018)50 cited