Joshua L Bonkowsky
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Explore the profile of Joshua L Bonkowsky including associated specialties, affiliations and a list of published articles.
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146
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1531
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Recent Articles
1.
Gavazzi F, Charsar B, Hamilton E, Erler J, Patel V, Woidill S, et al.
Mol Genet Metab
. 2025 Feb;
144(3):109048.
PMID: 39951964
We establish the natural history of pediatric-onset TUBB4A-related leukodystrophy to improve clinical trial readiness through a medical record-based longitudinal study. An international cohort of 216 individuals with pediatric-onset TUBB4A-related leukodystrophy...
2.
Thorpe H, Pedersen B, Dietze M, Link N, Quinlan A, Bonkowsky J, et al.
Am J Hum Genet
. 2025 Feb;
112(3):572-582.
PMID: 39947185
Loss-of-function mutations in the X chromosome gene PIGA lead to phosphatidylinositol glycan class A congenital disorder of glycosylation (PIGA-CDG), an ultra-rare CDG typically presenting with seizures, hypotonia, and neurodevelopmental delay....
3.
Jackson R, Heyrend C, Bucher B, Brewer A, Peterson C, May L, et al.
Pediatr Transplant
. 2025 Feb;
29(2):e70044.
PMID: 39924350
Background: Pediatric solid organ transplantation is a complex process including a tightly orchestrated medication regimen, essential for prevention of infection, rejection, graft failure, and mortality. Pharmacogenomic (PGx) testing tailors medication...
4.
Jenkins S, Palmquist R, Shayota B, Solorzano C, Bonkowsky J, Estabrooks P, et al.
Pediatr Res
. 2025 Jan;
PMID: 39821137
The integration of genomic medicine into pediatric clinical practice is a critical need that remains largely unmet, especially in socioeconomically challenged and rural areas where healthcare disparities are most pronounced....
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6.
Shiva M, Hosseinpour S, Ashrafi M, Heidari M, Rezaei Z, Zebardast J, et al.
J Child Neurol
. 2024 Nov;
:8830738241293171.
PMID: 39558671
Leukodystrophies are a heterogeneous group of inherited neurologic disorders. These disorders are indeed progressive and debilitating conditions with limited treatment options and high mortality rates. There is a deficiency in...
7.
Rimmasch M, Wilson C, Walton N, Huynh K, Bonkowsky J, Palmquist R
Epilepsia Open
. 2024 Oct;
9(6):2495-2504.
PMID: 39467089
Molecular diagnosis for pediatric epilepsy patients can impact treatment and health supervision recommendations. However, there is little known about factors affecting the time to receive a diagnosis. Our objective was...
8.
Hashemi E, Srivastava I, Aguirre A, Yoseph E, Kaushal E, Awani A, et al.
Ann Neurol
. 2024 Oct;
97(2):296-312.
PMID: 39467011
Objective: X-linked adrenoleukodystrophy (ALD) is caused by mutations in ABCD1, a peroxisomal gene. More than half of males with an ABCD1 mutation develop inflammatory cerebral demyelination (cALD), but underlying mechanisms...
9.
Nama N, DeLaroche A, Bonkowsky J, Gremse D, Tieder J
Pediatr Rev
. 2024 Sep;
45(10):560-572.
PMID: 39349854
Brief resolved unexplained events (BRUEs) are frequently encountered in infants younger than 1 year. By definition, these events require the infant to be asymptomatic and at baseline at the time...
10.
Sandoval Karamian A, Baker M, Palmquist R, Wilkes J, Porter C, Olsen J, et al.
J Child Neurol
. 2024 Sep;
39(11-12):409-414.
PMID: 39257161
To determine whether there is a correlation of genetic diagnosis/result with long-term seizure freedom in pediatric epilepsy patients. This was a prospective and retrospective cohort study of children with epilepsy...