Joshua Leith Bonkowsky

41PUBLICATIONS

137CO-AUTHORS

NeonatologyGene mappingSouth-East Asian literature (excl. Indonesian)Medical virologyGenetic immunology

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Publications (41)

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|Jul 10, 2026

Disease Outcomes in Boys with <i>ABCD1</i> Variants Identified by Newborn Screening for X-ALD.

|Jun 05, 2026

Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

|Mar 16, 2026

Message From the Editors to Our Reviewers: 2025.

Peter B Kang, Joshua L Bonkowsky, Suman Jayadev

|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 29, 2025

Message From the Editors to Our Reviewers: 2024.

Peter B Kang, Joshua Bonkowsky, Suman Jayadev

|Aug 12, 2025

<i>BLOC1S1</i> 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

Keith Van Haren

Ali Fatemi

Troy Lund

Ezzat Hashemi

Sabrina Malone Jenkins

Enrico Bertini

Antonella Spinazzola

Nicole I Wolf

Suman Jayadev

Peter B Kang

Frequent Collaborators

Keith Van Haren

Ali Fatemi

Troy Lund

Ezzat Hashemi