Associated Papers
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
van der Laan L et al.
Hgg Advances, 2025
Are CUL3 variants an underreported cause of congenital heart disease?
Di Francesco D et al.
American Journal of Medical Genetics. Part A, 2023
A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.
Asmar AJ et al.
Nature Communications, 2023
37495603 (PubMed )
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A novel splice site CUL3 variant in a patient with neurodevelopmental delay.
Vincent KM et al.
Brain & Development, 2023
Current trends of high-risk gene Cul3 in neurodevelopmental disorders.
Lin P et al.
Frontiers in Psychiatry, 2023
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.
Kato K et al.
Journal of Human Genetics, 2021
Control of craniofacial and brain development by Cullin3-RING ubiquitin ligases: Lessons from human disease genetics.
Asmar AJ et al.
Experimental Cell Research, 2020
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
Nakashima M et al.
Journal of Human Genetics, 2020
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