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Employment (4)

PreventionGenetics: Marshfield, WI, US

2024-08-29 to present
Employment
Source: Self-asserted source
Erica Macke

Nationwide Children's Hospital: Columbus, US

2022-07-01 to 2024-08-02 | LGG Fellow (The Institute for Genomic Medicine)
Employment
Source: Self-asserted source
Erica Macke

Mayo Clinic: Rochester, Minnesota, US

2019-05-14 to 2022-07-01 | Research Fellow: Translational Genomics Program (Center for Individualized Medicine)
Employment
Source: Self-asserted source
Erica Macke

Mayo Clinic Rochester: Rochester, MN, US

2018-07-30 to 2019-05-13 | Research Fellow (Molecular Pharmacology and Experimental Therapeutics)
Employment
Source: Self-asserted source
Erica Macke

Education and qualifications (4)

Nationwide Children's Hospital: Columbus, US

2022-07 to 2024-08 | Laboratory Genetics and Genomics Fellowship (Institute for Genomic Medicine)
Education
Source: Self-asserted source
Erica Macke

University of Wisconsin Madison: Madison, WI, US

2012-09-01 to 2018-06-11 | PhD (Genetics)
Education
Source: Self-asserted source
Erica Macke

University of Michigan: Ann Arbor, US

2007-09-01 to 2011-05-01 | BS (Ecology and Evolutionary Biology)
Education
Source: Self-asserted source
Erica Macke

University of Michigan: Ann Arbor, MI, US

2007-09-01 to 2011-05-01 | BS (German)
Education
Source: Self-asserted source
Erica Macke

Works (22)

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A
2025-03 | Journal article
Contributors: Erica L. Macke; Anthony R. Miller; Caitlyn M. Colwell; Maria Hernandez Gonzalez; Jesse Hunter; Lakshmi Prakruthi Rao Venkata; Lauren Walker; Gregory Wheeler; Richard K. Wilson; Elaine R. Mardis et al.
Source: check_circle
Crossref

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.

BMC genomics
2024-04-16 | Journal article
Contributors: Fadra N; Schultz-Rogers LE; Chanana P; Cousin MA; Macke EL; Ferrer A; Pinto E Vairo F; Olson RJ; Oliver GR; Mulvihill LA et al.
Source: Self-asserted source
Erica Macke

Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.

Human genetics
2024-03-27 | Journal article
Contributors: Ferrer A; Duffy P; Olson RJ; Meiners MA; Schultz-Rogers L; Macke EL; Safgren S; Morales-Rosado JA; Cousin MA; Oliver GR et al.
Source: Self-asserted source
Erica Macke

A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.

Neuro-oncology advances
2023-12-10 | Journal article
Contributors: Macke EL; Miller AR; Stonerock E; Olshefski R; Zajo K; Bedrosian TA; Mardis ER; Akkari YMN; Cottrell CE; Kathleen Schieffer
Source: Self-asserted source
Erica Macke

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

American journal of human genetics
2023-04-12 | Journal article
Contributors: Burak Tepe; Macke EL; Niceta M; Weisz Hubshman M; Kanca O; Schultz-Rogers L; Zarate YA; Schaefer GB; Granadillo De Luque JL; Wegner DJ et al.
Source: Self-asserted source
Erica Macke

Impact of integrated translational research on clinical exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics
2023-02-01 | Journal article
Contributors: Klee EW; Cousin MA; Pinto E Vairo F; Morales-Rosado JA; Macke EL; Jenkinson WG; Ferrer A; Schultz-Rogers LE; Olson RJ; Oliver GR et al.
Source: Self-asserted source
Erica Macke

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Molecular Genetics & Genomic Medicine
2022-07 | Journal article
Contributors: Erica L. Macke; Joel A. Morales‐Rosado; Sarah K. Macklin‐Mantia; Christopher T. Schmitz; Björn Oskarsson; Eric W. Klee; Klaas J. Wierenga
Source: check_circle
Crossref

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.

Laboratory medicine
2022-07-01 | Journal article
Contributors: Macke EL; Meyer RG; Hoppman NL; Ketterling RP; Patricia T. Greipp, D.O.; Xu X; Baughn LB; Shafer DA; He RR; Jess Peterson
Source: Self-asserted source
Erica Macke

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.

Brain sciences
2021-07-14 | Journal article
Contributors: Srivastava S; Macke EL; Swanson LC; Coulter D; Klee EW; Mullegama SV; Xie Y; Lanpher BC; Bedoukian EC; Skraban CM et al.
Source: Self-asserted source
Erica Macke

Cover

Molecular Genetics & Genomic Medicine
2020-09 | Journal article
Contributors: Joel A. Morales‐Rosado; Erica L. Macke; Margot A. Cousin; Gavin R. Oliver; Radhika Dhamija; Eric W. Klee
Source: check_circle
Crossref

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

Molecular Case Studies
2020-08 | Journal article
Contributors: Erica L. Macke; Joel A. Morales-Rosado; Aditi Gupta; Christopher T. Schmitz; Teresa Kruisselbrink; Brendan Lanpher; Eric W. Klee
Source: check_circle
Crossref

Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.

American journal of medical genetics. Part A
2020-08 | Journal article
Contributors: Muthusamy K; Macke EL; Klee EW; Tebben PJ; Hand JL; Hasadsri L; Marcou CA; Schimmenti LA
Source: Self-asserted source
Erica Macke via Europe PubMed Central

Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease.

Journal of clinical immunology
2020-07 | Journal article
Contributors: Macke EL; Pinto E Vairo F; Manian DV; Smith AR; Kemppainen JL; Klee EW; Stephens MC; Joshi AY
Source: Self-asserted source
Erica Macke via Europe PubMed Central

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

Molecular genetics & genomic medicine
2020-06 | Journal article
Contributors: Morales-Rosado JA; Macke EL; Cousin MA; Oliver GR; Dhamija R; Klee EW
Source: Self-asserted source
Erica Macke via Europe PubMed Central
grade
Preferred source (of 2)‎

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Clinical genetics
2020-05 | Journal article
Contributors: Cordeddu V; Macke EL; Radio FC; Lo Cicero S; Pantaleoni F; Tatti M; Bellacchio E; Ciolfi A; Agolini E; Bruselles A et al.
Source: Self-asserted source
Erica Macke via Europe PubMed Central
grade
Preferred source (of 2)‎

Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy.

Molecular vision
2020-04-01 | Journal article
Source: Self-asserted source
Erica Macke

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

European Journal of Medical Genetics
2020-01 | Journal article
Part of ISSN: 1769-7212
Source: Self-asserted source
Erica Macke

Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

Child Neurology Open
2020-01-01 | Journal article
Contributors: Nicole J. Boczek; Erica L. Macke; Jennifer Kemppainen; Eric W. Klee; Deborah L. Renaud; Ralitza H. Gavrilova
Source: check_circle
Crossref

Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice.

Genetics
2019-11-21 | Journal article
Source: Self-asserted source
Erica Macke
grade
Preferred source (of 2)‎

Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

eLife
2016-11 | Journal article
Part of ISSN: 2050-084X
Contributors: Wei-Hua Lee; Hitoshi Higuchi; Sakae Ikeda; Erica L Macke; Tetsuya Takimoto; Bikash R Pattnaik; Che Liu; Li-Fang Chu; Sandra M Siepka; Kathleen J Krentz et al.
Source: Self-asserted source
Erica Macke via Crossref Metadata Search

Genetic basis of age-dependent synaptic abnormalities in the retina

Mammalian Genome
2014-10-02 | Journal article
Part of ISSN: 0938-8990
Contributors: Hitoshi Higuchi; Erica L. Macke; Wei-Hua Lee; Sam A. Miller; James C. Xu; Sakae Ikeda; Akihiro Ikeda
Source: Self-asserted source
Erica Macke via Crossref Metadata Search

Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype

Mammalian Genome
2011-10 | Journal article
Part of ISSN: 0938-8990
Contributors: Bridget C. O’Connor; Erica L. Macke; Catherine E. Keegan
Source: Self-asserted source
Erica Macke via Crossref Metadata Search