EM
Erica Macke
PreventionGenetics, Nationwide Children's Hospital, University of Wisconsin–Madison, Mayo Clinic, University of Michigan
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
0000-0001-8324-506X
Employment
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PreventionGenetics2024 - Present
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Nationwide Children's Hospital LGG Fellow2022 - 2024
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Mayo Clinic Research Fellow: Translational Genomics Program2019 - 2022
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Mayo Clinic Rochester Research Fellow2018 - 2019
Education
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Nationwide Children's Hospital Laboratory Genetics and Genomics Fellowship2022 - 2024
- 2012 - 2018
- 2007 - 2011
- 2007 - 2011
Projects & Funding
Projects & funding information is unavailable.
Publications (22)
- Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome Save
- Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease. Save
- Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data. Save
- A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition. Save
- Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Save
- Impact of integrated translational research on clinical exome sequencing. Save
- Identification of a Cryptic t(8;20;21)(q22;p13;q22) Resulting in RUNX1T1/RUNX1 Fusion in a Patient with Newly Diagnosed Acute Myeloid Leukemia. Save
- Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome Save
- Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Save
- Cover Save
- A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C Save
- Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. Save
- Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease. Save
- Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia. Save
- Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Save
- Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy. Save
- Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report Save
- Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures Save
- Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice. Save
- Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies Save