Pankaj Prasun

13PUBLICATIONS
3CO-AUTHORS
Neurology and neuromuscular diseasesFoetal development and medicineNeonatologyGenetics not elsewhere classifiedMetabolic medicine
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Publications (13)

|May 22, 2026
Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.

|Oct 16, 2025
Eph-ephrin signaling and its potential role in female reproductive tract development.

Pankaj Prasun

|Aug 08, 2025
Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder.

Pankaj Prasun, Elizabeth Kellom, Kimberly Stepien

|Jun 04, 2025
Chromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections.

Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam

|Feb 12, 2025
FBXL4-Related Mitochondrial Depletion Syndrome Underscores the role of Mitophagy in Stem Cell Differentiation during Embryogenesis.

Pankaj Prasun

|Aug 01, 2024
Cerebral venous sinus thrombosis and SCN1A, a novel association?

Pankaj Prasun, Kylie Vermeire, Abdulrazak Alali

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Frequent Collaborators

1 joint publications

Bryn D Webb

1 joint publications

Utkarsh Kohli

1 joint publications

Kimberly Stepien