Associated Papers
Impaired AIS plasticity in ankyrin-G mutant mice alters cortical excitability and behavior.
Li M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf
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-s003.xlsx › Foglio1
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F et al.
Clinical Genetics, 2024
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
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly.
Yang R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 321.156
Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I.
Doyle GA et al.
Bipolar Disorders, 2012
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