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
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
van der Donk R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE et al.
Cold Spring Harbor Molecular Case Studies, 2019
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