Publications by authors named "Caleb Bupp"

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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, Caleb P Bupp

Function (Oxf)· February 2026

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The molecular architecture of severe pediatric traumatic brain injury: integrated omics reveal therapeutic pathways.
Elora Hussain, Jeremy W Prokop, Emily Nonnemacher, Nadia Ashrafi, Ali Yilmaz, Caleb P Bupp

Crit Care· December 2025

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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, Caleb P Bupp

Am J Med Genet A· December 2025

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Caleb Bupp

Nat Genet· November 2025

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Methyl-CpG-binding domain as a protein interaction partner in promoter regulation and neurodevelopment through evolutionary expanded entanglement.
Stephanie M Bilinovich, Surya B Chhetri, Jackson T Mitchell, Gage O Leighton, Vladislav Jdanov, Caleb P Bupp

Am J Physiol Cell Physiol· September 2025

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Role of CAMK2D in neurodevelopment and associated conditions.
Pomme M F Rigter, Charlotte de Konink, Matthew J Dunn, Martina Proietti Onori, Jennifer B Humberson, Caleb P Bupp

Am J Hum Genet· September 2025

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Implementation of Rapid Whole Genome Sequencing in Pediatric Acute Care is Associated with Positive Shifts in Health Care Professionals' Perspectives Toward Testing.
Andrea Scheurer-Monaghan, Joseph D Fakhoury, Caleb P Bupp, Melissa A Hicks, Danielle Nolan

J Pediatr· July 2025

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From castaways to discoveries: unveiling treasures in skin RNAseq using a novel multidimensional data processing workflow including infection-host dynamics.
Disha Bhargava, Alec Labadie, Rebecca L Hanson-Rios-Stutz, Austin Goodyke, Ella M Moses, Caleb P Bupp

Physiol Genomics· May 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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Access to clinical genetic services: An evaluation of patient referral characteristics and identifying barriers in Michigan.
Lacey N Lemke, Caleb P Bupp, Karen L Niemchick

J Genet Couns· April 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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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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Role of CAMK2D in neurodevelopment and associated conditions.
Pomme M F Rigter, Charlotte de Konink, Matthew J Dunn, Martina Proietti Onori, Jennifer B Humberson, Caleb P Bupp

Am J Hum Genet· February 2024

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Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.
Marian L Henderson, Jacob K Zieba, Xiaopeng Li, Daniel B Campbell, Michael R Williams, Caleb P Bupp

BioTech (Basel)· January 2024

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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A Arshad, Stephan C Collins, Caleb Bupp

Brain· November 2023

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GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Allan Bayat, Tobias Lindau, Angel Aledo-Serrano, Antonio Gil-Nagel, Ivo Barić, Caleb Bupp

Clin Genet· November 2023

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Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Long Guo, Smrithi Salian, Jing-Yi Xue, Nicola Rath, Justine Rousseau, Caleb Bupp

Am J Hum Genet· July 2023

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TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb Bupp

Am J Med Genet A· 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, Caleb P Bupp

Med Sci (Basel)· April 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, Caleb P Bupp

BMC Pediatr· January 2023

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Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.
Caleb P Bupp, Elizabeth G Ames, Madison K Arenchild, Sara Caylor, David P Dimmock

Children (Basel)· January 2023

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Evolutionary Landscape of Genes to Inform Genotype-to-Phenotype Relationships.
Adam Underwood, Daniel T Rasicci, David Hinds, Jackson T Mitchell, Jacob K Zieba, Caleb P Bupp

Genes (Basel)· January 2023

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Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.
Taylor W Cook, Amy M Wilstermann, Jackson T Mitchell, Nicholas E Arnold, Surender Rajasekaran, Caleb P Bupp

Biomolecules· January 2023

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