Erica L Macke

7PUBLICATIONS
13CO-AUTHORS
Gene mappingAvionicsInfant and child healthPredictive and prognostic markersNeurology and neuromuscular diseases
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Publications (7)

|Nov 13, 2024
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome.

Erica L Macke, Anthony R Miller, Caitlyn M Colwell

|May 16, 2022
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.

Erica L Macke, Joel A Morales-Rosado, Sarah K Macklin-Mantia

|Oct 29, 2020
Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report.

Nicole J Boczek, Erica L Macke, Jennifer Kemppainen

|Aug 27, 2020
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.

Erica L Macke, Joel A Morales-Rosado, Aditi Gupta

|Jun 30, 2020
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.

Joel A Morales-Rosado, Erica L Macke, Margot A Cousin

|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Viviana Cordeddu, Erica L Macke, Francesca Clementina Radio

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Frequent Collaborators

3 joint publications

Joel A Morales-Rosado

1 joint publications

Bikash Pattnaik

1 joint publications

Jenny E Gumperz

1 joint publications

Akihiro Ikeda