PRUNE1

Publications

Alfadhel M et al. PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review. Child Neurol Open. 2018;5:2329048X17752237. PMID: 29372174

Alhaddad B et al. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. Neuropediatrics. 2018;49(5):330-8. PMID: 29940663

Costain G et al. Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. Am J Med Genet A. 2017;173(3):740-3. PMID: 28211990

Iacomino M et al. Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. Eur J Paediatr Neurol. 2018;22(3):541-3. PMID: 29307700

Karaca E et al. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015;88(3):499-513. PMID: 26539891

Karakaya M et al. PRUNE1: a disease-causing gene for secondary microcephaly. Brain. 2017;140(10):e61. PMID: 28969376

Nistala H et al. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2020 Oct 26:ddaa237. PMID: 33105479

Zollo M et al. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain. 2017;140(4):940-52. PMID: 28334956