Associated Papers
[Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].
Malievskiy OA et al.
Problemy Endokrinologii, 2026
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.
Mani Jacob D et al.
Cureus, 2025
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.
De Dominicis A et al.
Epilepsia, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Case report: Neuropsychological assessment in a patient with 4H leukodystrophy.
Haneda A et al.
The Clinical Neuropsychologist, 2024
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Gorcenco S et al.
Journal of Neurology, 2024
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Geroldi A et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A et al.
Journal of Medical Genetics, 2023
Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.
Yang F et al.
Clinical Genetics, 2023
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2022
A new variant of MYCN gene as a cause of Feingold syndrome.
Zeka N et al.
Clinical Case Reports, 2022
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Muirhead KJ et al.
Cold Spring Harbor Molecular Case Studies, 2021
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D et al.
American Journal of Human Genetics, 2021
RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E et al.
Frontiers in Molecular Biosciences, 2021
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S et al.
Neurology. Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis.
DeGasperis SM et al.
Neurology. Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis.
Choquet K et al.
Molecular Brain, 2019
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Kulhánek J et al.
Neurologia I Neurochirurgia Polska, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba M et al.
Plos One, 2018
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Ghoumid J et al.
European Journal of Human Genetics : Ejhg, 2017
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.
Richards MR et al.
Journal of Medical Genetics, 2017
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A et al.
Annals of Neurology, 2016
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.
Battini R et al.
Bmc Medical Genetics, 2015
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
Gutierrez M et al.
Orphanet Journal of Rare Diseases, 2015
Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.
Billington E et al.
Case Reports in Endocrinology, 2015
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI et al.
Neurology, 2014
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.
Synofzik M et al.
Neurology, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
Daoud H et al.
Journal of Medical Genetics, 2013
[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].
Tamura A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
Tétreault M et al.
American Journal of Human Genetics, 2011