Associated Papers
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model.
Costa CIS et al.
Npj Genomic Medicine, 2025
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Dystrophin genetic variants and autism.
Passos-Bueno MR et al.
Discover Mental Health, 2022
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cook CB et al.
Cold Spring Harbor Molecular Case Studies, 2021
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
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Sleven H et al.
American Journal of Human Genetics, 2017
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