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Handbook of Clinical Neurology|September 22, 2020
Genetic mechanisms of neurodevelopmental disordersP Y Billie Au, Alison Eaton, David A Dyment
American Journal of Medical Genetics. Part A|December 21, 2013
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizuresP Y Billie Au, Bob Argiropoulos, Jillian S Parboosingh, et al.
Epilepsia Open|December 18, 2020
Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313IJasmine Maghera, Jingru Li, Shawn M Lamothe, et al.
Oncogene|March 1, 2005
The oncogene PDGF-B provides a key switch from cell death to survival induced by TNFP Y Billie Au, Nicole Martin, Hien Chau, et al.
The Journal of Biological Chemistry|November 15, 2025
Regulation of Kv2.1 biogenesis and gating by candidate disease-linked Kv6.1 variantsDamayantee Das, Shawn M Lamothe, Nicholas C Duta, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical reviewP Y Billie Au, Hilary E Racher, John M Graham, et al.
Iscience|September 26, 2022
Cannabidiol counters the effects of a dominant-negative pathogenic Kv7.2 variantXiaoqin Zhan, Chris Drummond-Main, Dylan Greening, et al.
Molecular Cancer Therapeutics|September 21, 2006
Potential use of alexidine dihydrochloride as an apoptosis-promoting anticancer agentKenneth W Yip, Emma Ito, Xinliang Mao, et al.
Clinical Genetics|November 27, 2024
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature ReviewEmilie Sjøstrøm, Ange-Line Bruel, Christophe Philippe, et al.
Neurogenetics|February 8, 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritanceEmma H Gillesse, Miranda Wan, Setareh Ashtiani, et al.
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