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
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: Image1.PDF
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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