De Novo Missense Variants in <scp> <i>SLC32A1</i> </scp> Cause a Developmental and Epileptic Encephalopathy Due to Impaired <scp>GABAergic</scp> NeurotransmissionKonrad Platzer, Sonja M. Wojcik, Elaine M. Pereira et al.|Annals of Neurology|2022Cited by 23
Intragenic Deletions of <i>GNAS</i> in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/BDong Li, Michael A. Levine, Caleb Bupp et al.|The Journal of Clinical Endocrinology & Metabolism|2020Cited by 9