Joshua Leith Bonkowsky

43PUBLICATIONS
138CO-AUTHORS
Information systems development methodologies and practiceGene mappingNeonatologyMedical virologyGenetic immunology
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Publications (43)

|Aug 07, 2026
An introduction to ICD code development for pediatric neurology.

|Jul 17, 2026
Characterization of Leukodystrophy Penetrance Using Large-Scale Integration of Genomic Population Screening and Electronic Health Records.

|Jul 10, 2026
Disease Outcomes in Boys with ABCD1 Variants Identified by Newborn Screening for X-ALD.

|Jun 05, 2026
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

|Nov 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Romy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky

|Aug 12, 2025
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Raffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson

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Frequent Collaborators

4 joint publications

Keith Van Haren

3 joint publications

Ali Fatemi

3 joint publications

Troy Lund

3 joint publications

Ezzat Hashemi