Hyperinsulinism in an individual with an <scp><i>EP300</i></scp> variant of <scp>Rubinstein‐Taybi</scp> syndromeK. Taylor Wild, Elaine H. Zackai, Sarah E. Sheppard et al.|American Journal of Medical Genetics Part A|2021Cited by 5
<i>De novo MAP2K4</i> variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neuronsTomoki Nomakuchi, Elizabeth J. K. Bhoj|medRxiv|2025Cited by 0