Chai Ann Ng
@chaiannng.bsky.social
ClinGen VCEP members for cardiac potassium and sodium channels. I provide functional data using Automated Patch Clamp as evidence for VUS reclassification in channelopathies. Disclaimer: “Opinions expressed are my own.”
I hope our paper will inspire other diagnostic testing companies to use validated functional data for reclassifying their VUS.
July 31, 2025 at 1:11 AM
I hope our paper will inspire other diagnostic testing companies to use validated functional data for reclassifying their VUS.
Link to the paper (www.ahajournals.org/doi/epub/10....). Up to 41 VUS can be reclassified to provide diagnostic test results for 83 patients. Furthermore, up to 201 VUS now have functional evidence of pathogenicity, which will allow them to be reclassified in the future for up to 550 patients.
www.ahajournals.org
July 31, 2025 at 1:11 AM
Link to the paper (www.ahajournals.org/doi/epub/10....). Up to 41 VUS can be reclassified to provide diagnostic test results for 83 patients. Furthermore, up to 201 VUS now have functional evidence of pathogenicity, which will allow them to be reclassified in the future for up to 550 patients.
If you're in Japan and want to participate, here's the registration link from @naniontech.bsky.social (hopefully there's still space available). www.nanion.de/membrane-phy...
Membrane Physiology Symposium 2025 - Japan - Nanion Technologies
Join us at Nanion Unser Meeting Munich 2023, on-site or online for 2 days of outstanding talks, product demos, posters, networking, and much more!
www.nanion.de
July 6, 2025 at 12:50 AM
If you're in Japan and want to participate, here's the registration link from @naniontech.bsky.social (hopefully there's still space available). www.nanion.de/membrane-phy...
Preprint is available for those that want to find out more (www.medrxiv.org/content/10.1...), which is a collaboration between the laboratories of @amglazer.bsky.social and Jamie Vandenberg. I want to congratulate the co-first author Dr Joanne Ma, who has just completed her PhD @victorchang.edu.au
Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome
Background Brugada Syndrome (BrS) is an inherited arrhythmia disorder that causes an elevated risk of sudden cardiac death. Approximately 20% of patients with BrS have rare variants in SCN5A , which e...
www.medrxiv.org
July 6, 2025 at 12:41 AM
Preprint is available for those that want to find out more (www.medrxiv.org/content/10.1...), which is a collaboration between the laboratories of @amglazer.bsky.social and Jamie Vandenberg. I want to congratulate the co-first author Dr Joanne Ma, who has just completed her PhD @victorchang.edu.au
I am around, let’s see if I will bump into you!
April 25, 2025 at 2:18 PM
I am around, let’s see if I will bump into you!
Reposted by Chai Ann Ng
This was a collaborative project led by Matthew O'Neill and Joanne Ma and co-supervised by Jamie Vandenberg, @chaiannng.bsky.social and myself. Check out our preprint for more details! www.medrxiv.org/content/10.1... [7/7]
Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome
Background: Brugada Syndrome (BrS) is an inherited arrhythmia disorder that causes an elevated risk of sudden cardiac death. Approximately 20% of patients with BrS have rare variants in SCN5A, which e...
www.medrxiv.org
March 20, 2025 at 1:53 AM
This was a collaborative project led by Matthew O'Neill and Joanne Ma and co-supervised by Jamie Vandenberg, @chaiannng.bsky.social and myself. Check out our preprint for more details! www.medrxiv.org/content/10.1... [7/7]