Associated Papers
White-Sutton syndrome and congenital heart disease: case report and literature review.
Duan J et al.
Bmc Pediatrics, 2023
A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.
Qin Y et al.
Molecular Psychiatry, 2022
35388181 (PubMed )
Supplement: 41380_2022_1539_MOESM1_ESM.docx
Gene editing in monogenic autism spectrum disorder: animal models and gene therapies.
Wang N et al.
Frontiers in Molecular Neuroscience, 2022
Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder.
Kitagawa K et al.
Molecular Brain, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
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
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
Hashimoto R et al.
Journal of Human Genetics, 2016
De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ.
Matsumura K et al.
Journal of Molecular Psychiatry, 2016
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