#KCNH2 - Twitter Hashtag

almost 2 years ago

Functional assessments improved variant interpretation in long QT syndrome and further facilitated clinical diagnosis and management https://t.co/SQ6EZX2Jq7 @ChaiAnn_Ng @Mo_PedsEP @VandenbergJamie #GIMO #KCNH2 #LongQTSyndrome #AutomatedPatchClamp #VUSReclassification

GIMJournal's tweet photo. Functional assessments improved variant interpretation in long QT syndrome and further facilitated clinical diagnosis and management https://t.co/SQ6EZX2Jq7 @ChaiAnn_Ng @Mo_PedsEP @VandenbergJamie #GIMO #KCNH2 #LongQTSyndrome #AutomatedPatchClamp #VUSReclassification https://t.co/96W9UNAbso

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Chai Ng @ChaiAnn_Ng

over 2 years ago

Presented at Cardiac Interest Group meeting about using functional data to reclassify VUS in #KCNH2-related #LQTS. Medicare now pays for genetic testing for LQTS but missense variants most likely will be VUS from my experience in @AusGenomics cardiovascular flagship study. 1/2

ChaiAnn_Ng's tweet photo. Presented at Cardiac Interest Group meeting about using functional data to reclassify VUS in #KCNH2-related #LQTS. Medicare now pays for genetic testing for LQTS but missense variants most likely will be VUS from my experience in @AusGenomics cardiovascular flagship study. 1/2 https://t.co/f4anqouSvy

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Chai Ng @ChaiAnn_Ng

over 2 years ago

I am pleased to share the Z-score for the largest #KCNH2 patch clamp dataset, which can be used as functional evidence within the @TheACMG variant classification framework. Hopefully this resource can help many individuals with #LQTS to get their #VUS reclassified. Happy to help.

ChaiAnn_Ng's tweet photo. I am pleased to share the Z-score for the largest #KCNH2 patch clamp dataset, which can be used as functional evidence within the @TheACMG variant classification framework. Hopefully this resource can help many individuals with #LQTS to get their #VUS reclassified. Happy to help. https://t.co/84ZQd4eaZ9

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Circulation: Genomic and Precision Medicine @Circ_Gen

over 3 years ago

From @MJAckermanMDPhD + team: Suppression and Replacement Gene Therapy for KCNH2-Mediated Arrhythmias https://t.co/dw1meIIfdj @AHAScience #ahajournals #CardioGen #genetherapy #lqts #KCNH2 #ipsc #SupRep 📽️ @jenniejlin

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Chai Ng @ChaiAnn_Ng

over 4 years ago

Attending #iccg2022 where Joanne presented a poster on her SCN5A APC assay using @NanionTech #syncropatch and I talked about my calibrated #KCNH2 functional assay according to @ClinGenResource recommendation, which would be in press soon. #CardioTwitter #iccg22 @VictorChangInst

ChaiAnn_Ng's tweet photo. Attending #iccg2022 where Joanne presented a poster on her SCN5A APC assay using @NanionTech #syncropatch and I talked about my calibrated #KCNH2 functional assay according to @ClinGenResource recommendation, which would be in press soon. #CardioTwitter #iccg22
@VictorChangInst https://t.co/UtKK9FQg1j

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Chai Ng @ChaiAnn_Ng

over 4 years ago

Registration for CCG2022 @clingen is open and I will present my calibrated KCNH2 functional assay using #SyncroPatch384 and describe the result of 458 SNV in exon 2 of #KCNH2 for interpreting mutational hotspot in this exon which encodes PAS domain of #hERG K+ #ionchannels

ChaiAnn_Ng's tweet photo. Registration for CCG2022 @clingen is open and I will present my calibrated KCNH2 functional assay using #SyncroPatch384 and describe the result of 458 SNV in exon 2 of #KCNH2 for interpreting mutational hotspot in this exon which encodes PAS domain of #hERG K+ #ionchannels https://t.co/9Wt0Uh6bz7

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The Florey @TheFlorey

over 4 years ago

Day 3 of #12daysofneuroscience: Findings from Prof Chris Reid, Dr @mingsoh2 & team could help develop a novel #KCNH2 gene #biomarker to diagnose & manage #SUDEP 👉https://t.co/KgK9WpJpTV 📖Read: https://t.co/8Bulqi4DUJ @ANA_journals @CureEpilepsy @EpilepsyFdn @heartfoundation

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Chai Ng @ChaiAnn_Ng

almost 5 years ago

Our #KCNH2 patch clamp assay that built on https://t.co/Sz5l1rn7VB and https://t.co/FgAKQyNLEA has been used for the first time today to classify a KCNH2 variant as likely pathogenic. This validated assay will be presented at #AHA21 by Connie (honours student) @VandenbergJamie

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Hugues Abriel @[email protected] @SwissIonChannel

about 5 years ago

Impressive methodological "tour de force": the group of Pr. @VandenbergJamie, using high-throughput automated patch-clamp electrophysiology (@NanionTech), characterizes up to 30 #KCNH2 #potassiumchannels variants per week! Who needs more! #channelopathies https://t.co/Ea8TYgUKvP

Nanion Technologies @NanionTech

about 5 years ago

𝗣𝘂𝗯𝗹𝗶𝗰𝗮𝘁𝗶𝗼𝗻 𝗔𝗹𝗲𝗿𝘁: "Determining which variants contribute to disease causation is challenging with more than half of all missense variants now classified as variants of uncertain significance" Read more: https://t.co/o2azeWfLhy #genetics #KCNH2 #ionchannels

NanionTech's tweet photo. 𝗣𝘂𝗯𝗹𝗶𝗰𝗮𝘁𝗶𝗼𝗻 𝗔𝗹𝗲𝗿𝘁: "Determining which variants contribute to disease causation is challenging with more than half of all missense variants now classified as variants of uncertain significance"

Read more: https://t.co/o2azeWfLhy

#genetics #KCNH2 #ionchannels https://t.co/te1cAbY7Vu

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The Florey @TheFlorey

about 5 years ago

A clear understanding of what causes #SUDEP remains elusive for scientists and clinicians. The team's findings help to further explain the close connection between #cardiac factors and #brain activity that underlie SUDEP. #epilepsy #heart #KCNH2 #biomarker #neuroscience

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The Florey @TheFlorey

about 5 years ago

Prof Chris Reid, Dr @mingsoh2 & team identify loss-of-function #KCNH2 gene as a potential #biomarker to predict #SUDEP (sudden unexpected death in #epilepsy) risk. Read:https://t.co/mAnU7p9yIy @ANA_journals:https://t.co/7aRekjMBgN @CureEpilepsy @epilepsy_fdn @heartfoundation 👇