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
Unveiling the prenatal features of HADDS: A case report and literature review.
Hu L et al.
Heliyon, 2025
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.
Lee M et al.
Human Genomics, 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
Clinical spectrum of individuals with de novo EBF3 variants or deletions.
Nishi E et al.
American Journal of Medical Genetics. Part A, 2021
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
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
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR et al.
Kidney International Reports, 2020
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.
Harnish JM et al.
Journal of Visualized Experiments : Jove, 2019
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30700791 (PubMed )
Supplement: NIHMS1521482-supplement-Large_Excel_File_1.xlsx › ConfirmedDiagnosesAgreed
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
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao HT et al.
American Journal of Human Genetics, 2017
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