Associated Papers
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.
Qiao Y et al.
Genes & Diseases, 2025
40212794 (PubMed )
Supplement: mmc2.xlsx › Sheet1
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS et al.
Nature Communications, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Urologic manifestations of hypotonia, ataxia, and delayed development syndrome (HADDS), a rare neurodevelopmental disorder.
Batie SF et al.
Journal of Pediatric Urology, 2023
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM et al.
Human Genomics, 2021
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR et al.
Kidney International Reports, 2020
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
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