Associated Papers
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
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE et al.
Cold Spring Harbor Molecular Case Studies, 2019
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
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