Publications by authors named "Elizabeth Vansickle"

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Opportunities for RNA sequencing in physiology: from big data to understanding homeostasis and heterogeneity.
Jeremy W Prokop, Stephanie M Bilinovich, Ember Tokarski, Sangeetha Vishweswaraiah, Sophie VanderWeele, Elizabeth A VanSickle

Function (Oxf)· February 2026

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A zebrafish model of nicotinamide adenine dinucleotide (NAD) deficiency-derived congenital disorders.
Visakuo Tsurho, Carla Gilliland, Jessica Ensing, Elizabeth A VanSickle, Nathan J Lanning

Dev Biol· January 2026

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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.
Elizabeth A VanSickle, Sara M Sarasua, Tracy Lowe, Christopher L Farrell, Luigi Boccuto

Am J Med Genet A· December 2025

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Case Report: An adult with related neurodevelopmental disorder and autism spectrum disorder.
Aruna Jain, Elizabeth VanSickle, Lia Zitano, Timothy Moss, Erica Schrader

Front Psychiatry· June 2025

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Monitoring ODC activity and polyamines in Bachmann-Bupp syndrome patient biological samples.
Chad R Schultz, Elizabeth A VanSickle, Caleb P Bupp, André S Bachmann

Methods Enzymol· May 2025

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Collection, preparation, and biobanking of clinical specimens for analysis in polyaminopathies.
Elizabeth A VanSickle, Chad R Schultz, André S Bachmann, Caleb P Bupp

Methods Enzymol· May 2025

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Repurposing With Purpose: Treatment of Bachmann-Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies.
Caleb P Bupp, Elizabeth A VanSickle, Julianne Michael, Chad R Schultz, Kelly Nguyen

Am J Med Genet C Semin Med Genet· April 2025

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A zebrafish model of nicotinamide adenine dinucleotide (NAD) deficiency-derived congenital disorders.
Visakuo Tsurho, Carla Gilliland, Jessica Ensing, Elizabeth Vansickle, Nathan J Lanning

bioRxiv· January 2025

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Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.
Taylor A Bejma, Willa S Beidler, Elizabeth A VanSickle, Jeremy W Prokop, Wendy T Brown

Am J Med Genet A· November 2024

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A novel 3q interstitial deletion including GATA2 and ZNF148: A case report.
Elizabeth Martin, Elizabeth A VanSickle, Linda Z Rossetti

Am J Med Genet A· August 2024

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Bachmann-Bupp syndrome and treatment.
André S Bachmann, Elizabeth A VanSickle, Julianne Michael, Marlie Vipond, Caleb P Bupp

Dev Med Child Neurol· April 2024

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Improvement of dermatological symptoms in patients with Bachmann-Bupp syndrome using difluoromethylornithine treatment.
Antara Afrin, Tonia S Afshan, Elizabeth A VanSickle, Julianne Michael, Rachel L Laarman

Pediatr Dermatol· May 2023

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Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.
Julianne Michael, Elizabeth VanSickle, Marlie Vipond, Abby Dalman, Jeremy Prokop

Med Sci (Basel)· April 2023

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Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in -further expansion of the phenotypic spectrum.
Kristen A Mikhail, Elizabeth VanSickle, Linda Z Rossetti

Cold Spring Harb Mol Case Stud· February 2023

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Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.
Claudia V Aniol, Jeremy W Prokop, Surender Rajasekaran, Spencer Pageau, Sydney K Elizer, Elizabeth A VanSickle

BMC Pediatr· January 2023

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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, Deanna Alexis Carere, Kara Withrow

Genet Med· October 2022

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Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Paul R Mark, Stephen A Murray, Tao Yang, Alexandra Eby, Angela Lai, Elizabeth A VanSickle

Cold Spring Harb Mol Case Stud· October 2022

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Computational and Experimental Analysis of Genetic Variants.
Jeremy W Prokop, Vladislav Jdanov, Lane Savage, Michele Morris, Neil Lamb, Elizabeth VanSickle

Compr Physiol· March 2022

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Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States.
Jennifer Beuschel, Hannah Geyer, Maria Rich, Mara Leimanis, Andrew Kampfschulte, Elizabeth VanSickle

J Pediatr· December 2021

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Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.
Sara A Byron, William P D Hendricks, Abhinav B Nagulapally, Jacqueline M Kraveka, William S Ferguson, Elizabeth VanSickle

Cancer Res· December 2021

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Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
Elizabeth A VanSickle, Julianne Michael, André S Bachmann, Surender Rajasekaran, Jeremy W Prokop

Am J Med Genet A· November 2021

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High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals.
Jeremy W Prokop, Nicholas L Hartog, Dave Chesla, William Faber, Chanise P Love, Elizabeth A VanSickle

Front Immunol· August 2021

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Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.
Surender Rajasekaran, Caleb P Bupp, Mara Leimanis-Laurens, Ankit Shukla, Christopher Russell, Elizabeth A VanSickle

Elife· July 2021

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