Associated Papers
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.
Shimojima Yamamoto K et al.
Human Genome Variation, 2023
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val8
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.
Zonic E et al.
Genetics in Medicine Open, 2023
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Wang L et al.
Molecular Genetics & Genomic Medicine, 2021
KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders.
Teng X et al.
Cns Neuroscience & Therapeutics, 2019
Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.
Faqeih EA et al.
Clinical Genetics, 2018
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