Associated Papers
Neurodevelopmental disorder mutations in the exchange factor DENN/MADD disrupt activation of Rab GTPases.
Khan M et al.
The Journal of Biological Chemistry, 2025
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE et al.
Brain : a Journal of Neurology, 2020
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