Associated Papers
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.
Sudnawa KK et al.
American Journal of Medical Genetics. Part A, 2024
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
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A et al.
Frontiers in Cell and Developmental Biology, 2022
A trivalent nucleosome interaction by PHIP/BRWD2 is disrupted in neurodevelopmental disorders and cancer.
Morgan MAJ et al.
Genes & Development, 2021
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
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