Associated Papers
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S et al.
European Journal of Human Genetics : Ejhg, 2024
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
37596007 (PubMed )
Supplement: mmc1.pdf
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
Genetic variations on SETD5 underlying autistic conditions.
Fernandes IR et al.
Developmental Neurobiology, 2018
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