Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
White-Sutton syndrome and congenital heart disease: case report and literature review.
Duan J et al.
Bmc Pediatrics, 2023
37016333 (PubMed )
Supplement: 12887_2023_3972_MOESM1_ESM.xlsx › Sheet1
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Nagy D et al.
Genes, 2022
35052493 (PubMed )
Supplement: genes-13-00154-s001.zip › SUPPLEMENTARY_TABLE_REVISED.xlsx › D_Genotype-Phenotype_comparison
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
Matsumura K et al.
Nature Communications, 2020
32103003 (PubMed )
Supplement: 41467_2020_14697_MOESM1_ESM.pdf
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Ye Y et al.
Cold Spring Harbor Molecular Case Studies, 2015
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