Associated Papers
Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.
Zhu Y et al.
Frontiers in Medicine, 2026
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
Cross-species oncogenomics offers insight into human muscle-invasive bladder cancer.
Wong K et al.
Genome Biology, 2023
37635261 (PubMed )
Supplement: 13059_2023_3026_MOESM3_ESM.xlsx › Table_S2
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.
Juliá-Palacios N et al.
Developmental Medicine and Child Neurology, 2022
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
Silver G et al.
Genes, 2021
34440401 (PubMed )
Supplement: genes-12-01227-s001.zip › genes-1234092-supplementary.pdf
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
Mayo S et al.
International Journal of Molecular Sciences, 2021
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
Webster R et al.
Clinical Genetics, 2017
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM et al.
Journal of Medical Genetics, 2016
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