Associated Papers
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.
Callahan NC et al.
Clinical Genetics, 2025
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes.
Nakagawa T et al.
Frontiers in Genetics, 2022
36685966 (PubMed )
Supplement: Table1.XLSX › Sheet1
Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.
Parenti I et al.
Frontiers in Neuroscience, 2021
Genetic variations on SETD5 underlying autistic conditions.
Fernandes IR et al.
Developmental Neurobiology, 2018
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Parenti I et al.
Human Genetics, 2017
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