Publications by authors named "Erica Macke"

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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, Maria Hernandez Gonzalez, Jesse Hunter

Am J Med Genet A· March 2025

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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Alejandro Ferrer, Patrick Duffy, Rory J Olson, Michael A Meiners, Laura Schultz-Rogers, Erica L Macke

Hum Genet· May 2024

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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.
Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke

BMC Genomics· April 2024

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A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.
Erica L Macke, Anthony R Miller, Eileen Stonerock, Randal Olshefski, Kristin Zajo

Neurooncol Adv· December 2023

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Burak Tepe, Erica L Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca

Am J Hum Genet· May 2023

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Impact of integrated translational research on clinical exome sequencing.
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, Joel A Morales-Rosado, Erica L Macke

Genet Med· February 2023

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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.
Erica L Macke, Reid G Meyer, Nicole L Hoppman, Rhett P Ketterling, Patricia T Greipp

Lab Med· July 2022

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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, Christopher T Schmitz, Björn Oskarsson

Mol Genet Genomic Med· July 2022

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Retinopathy of prematurity shows alterations in Vegfa isoform expression.
Olachi J Mezu-Ndubuisi, Yong-Seok Song, Erica Macke, Hailey Johnson, Ginika Nwaba

Pediatr Res· June 2022

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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Lindsey D Goodman, Heidi Cope, Zelha Nil, Thomas A Ravenscroft, Wu-Lin Charng, Erica L Macke

Am J Hum Genet· September 2021

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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.
Siddharth Srivastava, Erica L Macke, Lindsay C Swanson, David Coulter, Eric W Klee

Brain Sci· July 2021

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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Sandra Coppens, Alison M Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Erica Macke

Am J Hum Genet· June 2021

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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Sandra Coppens, Alison M Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Erica Macke

Am J Hum Genet· May 2021

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Impact of integrated translational research on clinical exome sequencing.
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, Joel A Morales-Rosado, Erica L Macke

Genet Med· March 2021

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A Levy, Andrés Hernández-García, Jennifer J MacKenzie, Erica L Macke

Am J Hum Genet· March 2021

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Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy.
Olachi J Mezu-Ndubuisi, Erica L Macke, Raja Kalavacherla, Amy Amanda Nwaba, Andrew Suscha

Mol Vis· February 2021

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique R M Vlaskamp, Birgitte Bertelsen, Erica L Macke

Genet Med· February 2021

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Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease.
Erica L Macke, Filippo Pinto E Vairo, Deepti Vellaichamy Manian, Angela R Smith, Jennifer L Kemppainen

J Clin Immunol· October 2020

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Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Karthik Muthusamy, Erica L Macke, Eric W Klee, Peter J Tebben, Jennifer L Hand

Am J Med Genet A· October 2020

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Expansion of -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report.
Nicole J Boczek, Erica L Macke, Jennifer Kemppainen, Eric W Klee, Deborah L Renaud

Child Neurol Open· October 2020

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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, Gavin R Oliver, Radhika Dhamija

Mol Genet Genomic Med· September 2020

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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Viviana Cordeddu, Erica L Macke, Francesca Clementina Radio, Stefania Lo Cicero, Francesca Pantaleoni

Clin Genet· August 2020

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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, Christopher T Schmitz, Teresa Kruisselbrink

Cold Spring Harb Mol Case Stud· August 2020

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Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.
Anne Slavotinek, Johanna M van Hagen, Louisa Kalsner, Shashidhar Pai, Laura Davis-Keppen, Erica L Macke

Eur J Med Genet· April 2020

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Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in Mice.
Erica L Macke, Erika Henningsen, Erik Jessen, Nicholas A Zumwalde, Michael Landowski

Genetics· January 2020

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