Associated Papers
White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.
Facchini A et al.
Clinical Genetics, 2026
Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.
Qin Y et al.
Developmental Neuroscience, 2025
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_4.xlsx › Blad1
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Nagy D et al.
Genes, 2022
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 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
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