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Publications by D. Herebian

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Neuropediatrics

English

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Mutations in Dock1 Disrupt Early Schwann Cell Development

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Mutations in DONSON Disrupt Replication Fork Stability and Cause Microcephalic Dwarfism

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Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood

Pediatric Research

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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American Journal of Human Genetics

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Piebald Lethal (Sl) Acts Early to Disrupt the Development of Neural Crest-Derived Melanocytes.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

American Journal of Human Genetics

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Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

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Inherited DNA Repair Gene Mutations in Men With Lethal Prostate Cancer

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Assessment of Cellular Redox State Using NAD(P)H Fluorescence Intensity and Lifetime

English