Associated Papers
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
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
29162653 (PubMed )
Supplement: supp_mcs.a002097_Supplemental_Table_S1.xlsx › Supplemental_Table_S1
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Sleven H et al.
American Journal of Human Genetics, 2017
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