Associated Papers
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N et al.
Human Genetics, 2024
38787418 (PubMed )
Supplement: 439_2024_2679_MOESM3_ESM.xlsx › S5_Prediction_scores
PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity.
Tirado-Class N et al.
Cold Spring Harbor Molecular Case Studies, 2022
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
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE et al.
Cold Spring Harbor Molecular Case Studies, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.
Webster E et al.
Cold Spring Harbor Molecular Case Studies, 2016
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