Associated Papers
A novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype.
Terrone G et al.
Seizure, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S11
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi A et al.
Clinical Genetics, 2023
A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.
Zhang H et al.
Frontiers in Pediatrics, 2023
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Coursimault J et al.
Human Mutation, 2022
Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.
Torun D et al.
American Journal of Medical Genetics. Part A, 2021
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Snijders Blok L et al.
American Journal of Human Genetics, 2019
A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay.
Westphal DS et al.
Neuropediatrics, 2018
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