Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay.
Idkaidak S et al.
Annals of Medicine and Surgery (2012), 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.
Turkdogan D et al.
The International Journal of Neuroscience, 2023
Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.
Scorrano G et al.
Frontiers in Neurology, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL et al.
American Journal of Medical Genetics. Part A, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
Gholizadeh MA et al.
Bmc Medical Genomics, 2022
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko M et al.
Annals of Human Genetics, 2021
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H et al.
Human Molecular Genetics, 2021
Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.
Bibbò F et al.
Frontiers in Oncology, 2021
Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder.
Fujii H et al.
Brain & Development, 2020
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Hartley JN et al.
American Journal of Medical Genetics. Part A, 2019
Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.
Okur D et al.
The Turkish Journal of Pediatrics, 2019
PRUNE1-related disorder: Expanding the clinical spectrum.
Imagawa E et al.
Clinical Genetics, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad B et al.
Neuropediatrics, 2018
PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.
Alfadhel M et al.
Child Neurology Open, 2018
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
Salpietro V et al.
Brain : a Journal of Neurology, 2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M et al.
Brain : a Journal of Neurology, 2017
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E et al.
Neuron, 2015