Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Urologic manifestations of hypotonia, ataxia, and delayed development syndrome (HADDS), a rare neurodevelopmental disorder.
Batie SF et al.
Journal of Pediatric Urology, 2023
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.
Yankee TN et al.
Nature Communications, 2023
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.
Ciaccio C et al.
Neurology. Genetics, 2023
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Deisseroth CA et al.
Annals of Neurology, 2022
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM et al.
Human Genomics, 2021
34256850 (PubMed )
Supplement: 40246_2021_342_MOESM6_ESM.xlsx › Sheet1
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR et al.
Kidney International Reports, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2017
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Blackburn PR et al.
Cold Spring Harbor Molecular Case Studies, 2017
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK et al.
Genome Medicine, 2017
28327206 (PubMed )
Supplement: 13073_2017_412_MOESM3_ESM.xlsx › Sheet1
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms FL et al.
American Journal of Human Genetics, 2017
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