Associated Papers
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia.
Maroofian R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40879451 (PubMed )
Supplement: MDS-40-2531-s002.xlsx › Foglio1
An NGS-based approach for precise and footprint-free CRISPR-based gene editing in human stem cells.
Vandendriessche B et al.
Methods (san Diego, Calif.), 2025
The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.
Fadda A et al.
International Journal of Molecular Sciences, 2025
40565278 (PubMed )
Supplement: ijms-26-05815-s001.zip › Table_S1._Clinical_and_genetic_data_and_HLA_typing.xlsx › Genetic_data
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.
Hashimoto AS et al.
Genetics in Medicine Open, 2025
40519748 (PubMed )
Supplement: mmc1.pdf
Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.
Fang X et al.
Cold Spring Harbor Molecular Case Studies, 2023
37263801 (PubMed )
Supplement: supp_mcs.a006233_Supplemental_Table_1.xlsx › ANK3_reported_variants
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.
Younus M et al.
Molecular Syndromology, 2023
Roles and mechanisms of ankyrin-G in neuropsychiatric disorders.
Yoon S et al.
Experimental & Molecular Medicine, 2022
35794211 (PubMed )
Supplement: 12276_2022_798_MOESM1_ESM.pdf
Behavioural characterization of AnkyrinG deficient mice, a model for ANK3 related disorders.
van der Werf IM et al.
Behavioural Brain Research, 2017
Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology.
Sener EF et al.
Psychiatry Investigation, 2016
High-throughput sequencing of autism spectrum disorders comes of age.
Wang M et al.
Genetics Research, 2013
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.
Bi C et al.
Human Mutation, 2012
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