Associated Papers
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
40569048 (PubMed )
Supplement: btaf377_supplementary_data.zip › Supplementary_material_PDF.pdf
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 › B_detailed_literature
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Martinez-Granero F et al.
Npj Genomic Medicine, 2021
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Garde A et al.
Clinical Genetics, 2021
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
Matsumura K et al.
Nature Communications, 2020
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Assia Batzir N et al.
American Journal of Medical Genetics. Part A, 2020
POGZ de novo missense variants in neuropsychiatric disorders.
Zhao W et al.
Molecular Genetics & Genomic Medicine, 2019
Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development.
Zhao W et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2019
POGZ truncating alleles cause syndromic intellectual disability.
White J et al.
Genome Medicine, 2016
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
Fukai R et al.
Journal of Human Genetics, 2015
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