Associated Papers
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.
Chiriatti L et al.
Clinical Genetics, 2026
Frameshift variants in the UBTF gene are associated with neurodevelopmental disorders.
Yi S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Novel association of sensorineural hearing loss with childhood-onset neurodegeneration with brain atrophy (CONDBA): Expanding the phenotypic spectrum of UBTF-related disorders.
Yathwin Kanagavel M et al.
Clinical Neurology and Neurosurgery, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Diagnostic features in paediatric MDS-EB with UBTF-internal tandem duplication: defining a unique subgroup.
Schwarz-Furlan S et al.
Histopathology, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression.
Wang X et al.
Journal of Medical Genetics, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Pietra A et al.
Neurology. Genetics, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Childhood-Onset Neurodegeneration with Brain Atrophy in Association with c.628G>A in UBTF Gene.
Gunasekaran PK et al.
Indian Journal of Pediatrics, 2023
Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.
Zhu G et al.
Cells, 2023
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.
Hussein Y et al.
Translational Psychiatry, 2023
HMG-boxes, ribosomopathies and neurodegenerative disease.
Moss T et al.
Frontiers in Genetics, 2023
A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.
Tinker RJ et al.
Molecular Genetics & Genomic Medicine, 2022
Behavioral and molecular effects of Ubtf knockout and knockdown in mice.
Hori RT et al.
Brain Research, 2022
Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review
Chi CS et al.
Brain Sciences, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Sharma R et al.
Blood, 2022
Ribosomal DNA promoter recognition is determined in vivo by cooperation between UBTF1 and SL1 and is compromised in the UBTF-E210K neuroregression syndrome.
Tremblay MG et al.
Plos Genetics, 2022
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism.
Ikeda C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.
AlBanji MH et al.
Molecular Genetics and Metabolism Reports, 2020
Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.
Knuutinen O et al.
Clinical Genetics, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
Bastos F et al.
Bmc Neurology, 2020
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE et al.
Intensive Care Medicine, 2019
Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies.
Hetman M et al.
Journal of Neurochemistry, 2019
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Sedláčková L et al.
Neuropediatrics, 2019
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C et al.
Human Molecular Genetics, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
Edvardson S et al.
American Journal of Human Genetics, 2017