Publications by authors named "Joshua Bonkowsky"

Claim this Profile
R
Risk of Seizures and Epilepsy in the Leukodystrophies.
Ashley N Hackett, Helena Yan, Katie Liu, Camille Corre, Kerry Gao, Joshua L Bonkowsky

Pediatr Neurol· January 2026

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.
Romy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, Adeline Vanderver, Ingeborg Krägeloh-Mann

Neurology· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Gender Trends in Professional Advancement Among Academic Pediatric Neurologists.
Juliet K Knowles, Angela L Hewitt, Prathyusha Teeyagura, Bren Botzheim, Derek Boothroyd, Joshua L Bonkowsky

JAMA Netw Open· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.
Carlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, Lisa R Young, Laura A Voss, Joshua L Bonkowsky

Genet Med· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.
Melissa A Wright, Courtney Demmitt-Rice, Keith P Van Haren, Troy C Lund, Florian Eichler, Joshua L Bonkowsky

J Child Neurol· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Raffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, Guy Helman, Leslie E Sanderson, Joshua L Bonkowsky

medRxiv· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.
Emma R Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Joshua Bonkowsky

Ann Child Neurol Soc· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An Imperative for Public Sharing of Adverse Events of Gene Therapy Trials.
Joshua L Bonkowsky, Deepa S Rajan, Florian Eichler

JAMA Neurol· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Death Causes Among Iranian Children With Leukodystrophies.
Mahsa Shiva, Sareh Hosseinpour, Mahmoud Reza Ashrafi, Morteza Heidari, Zahra Rezaei, Joshua L Bonkowsky

J Child Neurol· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies.
Sabrina Malone Jenkins, Rachel Palmquist, Brian J Shayota, Chelsea M Solorzano, Joshua L Bonkowsky

Pediatr Res· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Impact of Pharmacogenomic Testing in Pediatric Heart and Kidney Transplant.
Rachel L Jackson, Caroline Heyrend, Bridget Bucher, Ashlie Brewer, Caitlin Peterson, Joshua L Bonkowsky

Pediatr Transplant· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.
Holly J Thorpe, Brent S Pedersen, Miranda Dietze, Nichole Link, Aaron R Quinlan, Joshua L Bonkowsky

Am J Hum Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Francesco Gavazzi, Brittany Charsar, Eline Hamilton, Jacqueline A Erler, Virali Patel, Joshua L Bonkowsky

Mol Genet Metab· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit.
Sabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, Steven E Boyden, Thomas J Nicholas, Joshua L Bonkowsky

NPJ Genom Med· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Novel Mouse Model for Cerebral Inflammatory Demyelination in X-Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic Targets.
Ezzat Hashemi, Isha N Srivastava, Alejandro Aguirre, Ezra T Yoseph, Esha Kaushal, Joshua L Bonkowsky

Ann Neurol· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Factors impacting time to genetic diagnosis for children with epilepsy.
Megan Rimmasch, Carey A Wilson, Nephi A Walton, Kelly Huynh, Joshua L Bonkowsky

Epilepsia Open· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom.
Amanda G Sandoval Karamian, Monika Baker, Rachel Palmquist, Jacob Wilkes, Caleb Porter, Joshua L Bonkowsky

J Child Neurol· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Brief Resolved Unexplained Event: Evidence-Based and Family-Centered Management.
Nassr Nama, Amy DeLaroche, Joshua L Bonkowsky, David Gremse, Joel S Tieder

Pediatr Rev· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Laura Ann Adang, Samuel Groeschel, Chloe Grzyb, Russell D'Aiello, Francesco Gavazzi, Joshua L Bonkowsky

Mol Genet Metab· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in .
Holly J Thorpe, Brent S Pedersen, Miranda Dietze, Nichole Link, Aaron R Quinlan, Joshua L Bonkowsky

bioRxiv· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Laura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, Eric Mallack, Rebecca Ahrens-Nicklas

Cytotherapy· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study.
Joshua L Bonkowsky, Bridget Healey, Naomi C Sacks, Ronaé McLin, Philip L Cyr

Orphanet J Rare Dis· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of safety and early efficacy of AAV gene therapy in mouse models of vanishing white matter disease.
Jessica A Herstine, Pi-Kai Chang, Sergiy Chornyy, Tamara J Stevenson, Alex C Sunshine, Joshua L Bonkowsky

Mol Ther· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, Jamie L Fraser, Joshua L Bonkowsky

Mol Genet Metab· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Generation and characterization of a zebrafish gain-of-function Mitchell disease model.
Quentin Raas, Austin Wood, Tamara J Stevenson, Shanna Swartwood, Suzanne Liu, Joshua L Bonkowsky

Front Pediatr· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis