Associated Papers
A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.
Marin R et al.
Seizure, 2025
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms.
Botta S et al.
The Embo Journal, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
Determining the effects of loss of function mutations in human cell lines.
de Prisco N et al.
Star Protocols, 2022
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene.
Lee W et al.
Star Protocols, 2022
A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review.
Ye Y et al.
Frontiers in Pediatrics, 2022
Spinocerebellar ataxias (SCAs) caused by common mutations.
Müller U
Neurogenetics, 2021
Human Pumilio proteins directly bind the CCR4-NOT deadenylase complex to regulate the transcriptome.
Enwerem III et al.
Rna (new York, N.y.), 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Palmer EE et al.
Neurology, 2021
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
Voet J et al.
American Journal of Medical Genetics. Part A, 2020
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Suzuki H et al.
Nature, 2019
Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.
Lai KL et al.
Parkinsonism & Related Disorders, 2019
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Bonnemason-Carrere P et al.
American Journal of Medical Genetics. Part A, 2019
Post-transcriptional Regulatory Functions of Mammalian Pumilio Proteins.
Goldstrohm AC et al.
Trends in Genetics : Tig, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Gennarino VA et al.
Cell, 2018