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JCI Insight|February 2, 2021
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified miceHaixia Zhang, Alex Hanson, Tobias Scherf de Almeida, et al.
Physiological Reports|June 5, 2019
Beta-cell excitability and excitability-driven diabetes in adult Zebrafish isletsChristopher H Emfinger, Réka Lőrincz, Yixi Wang, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 13, 2019
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome RegistryDorothy K Grange, Helen I Roessler, Conor McClenaghan, et al.
Science (New York, N.Y.)|March 14, 2015
K2P channel gating mechanisms revealed by structures of TREK-2 and a complex with ProzacYin Yao Dong, Ashley C W Pike, Alexandra Mackenzie, et al.
Nature Communications|October 3, 2019
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9Marie F Smeland, Conor McClenaghan, Helen I Roessler, et al.
Brain : a Journal of Neurology|January 13, 2024
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeStephanie Efthymiou, Marcello Scala, Vini Nagaraj, et al.
Neurology. Genetics|June 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy SyndromeVini Nagaraj, Quentin Hugo Thomas, Paulo Ribeiro Nóbrega, et al.
Circulation. Genomic and Precision Medicine|October 26, 2018
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial HypertensionMichael S Bohnen, Lijiang Ma, Na Zhu, et al.
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