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Emma Singer
100 posts
Emma Singer
@emssinger
PhD candidate | Researcher | Human genetics | Molecular Cardiology
Bergabung Ekim 2019
138 Mengikuti106 Pengikut
Emma Singer me-retweet
💡@emssinger 🌟
Emma is presenting her PhD work in functional validating MYBPC3 splice variants in midigene assays
Gooo Emma🙌
#HGSA2025
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Emma Singer me-retweet
🧬Great talk by @emssinger at today's @Sydney_Uni HDR
Conference! 🥳🤩 She presented her PhD work on midigene assays to assess MYBPC3 splice-disrupting variants.
#HDR2025 #Cardiogenetics #RNAsplicing #PhDLife
@CentenaryInst @SydneyUni_Media
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Emma Singer me-retweet
Today Centenary hosted the NSW Cardiovascular Research Network 'Rising Stars' Seminar Series July event. An informative afternoon included talks by Centenary's Dr @AsterPijning on #Haemophilia and @emssinger who presented on inherited heart disease and sudden unexplained death.
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Emma Singer me-retweet
Fabulous oral prize presentation by Yuchen @IchAuch_CC at #iccg2024 describing tiered analysis of @AusGenomics cardiovascular genomes.
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Exciting News! Thrilled to share that my PhD was conferred yesterday, and I'm now officially Dr. Butters! 🥳🍾 Special thanks to my amazing supervisor @jodieingles27! Now just to wait for graduation in May 🎓 #PhDone @GarvanInstitute @Sydney_Uni
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Emma Singer me-retweet
Here we have @emssinger who is a second year PhD student at @CentenaryInst She's delving into the world of non-coding variants causing genetic heart disease. 🧬❤️👩🏻🔬 Stay tuned for her discoveries! #centenary2023 #GeneticHeartDisease #PhDJourney
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Emma Singer me-retweet
New Paper from my group - mainly work by talented PhD student @emssinger: We quantify how much of a problem splice-disrupting variants are for inherited heart disease and sudden cardiac death genes. rdcu.be/dohW8
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Emma Singer me-retweet
Our new study: TBX20 loss-of-function variants are a rare cause of LVNC and support TBX20 inclusion in genetic testing of LVNC. jmg.bmj.com/cgi/content/fu… Great work by @IchAuch_CC Funded by @NSWHealth
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After 4 years, 65198 words, 270 pages and 7 chapters I am finally #PhDone 🥳🎉🍾
@jodieingles27 @GarvanInstitute @Sydney_Uni
#CardioTwitter #cardiogen
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@CSHeartResearch @JuliaIsbister @Sydney_Uni @CentenaryInst @SydneyLHD @thecsanz @OzCvA @PrashSanders @JacobTfelt @FranklinWomen @AndrewKrahnMD @Ray52355023 @rdbagnall @DrEmmaLJohnston @USYD_CVI @NSWCVRN @rafik_tadros @judbacke @WomenAs1 @drprunellab @clara_chow Congratulations @JuliaIsbister 🎉🫶🏼
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HOORAY! We've received MRFF funding for our Elusive Hearts Study aimed at making genetic diagnoses in families with inherited cardiac diseases + previous negative genetic testing. SUPER excited to partner with @HeartKidsAust @AusGenomics and many awesome co-CIs @GarvanInstitute
Daniel MacArthur@dgmacarthur
Huge congratulations to @jodieingles27 and Ira Deveson (@GenTechGp) on their recent MRFF grant successes! garvan.org.au/news-events/ne…
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Emma Singer me-retweet
NSW Medical Research@MedResearchNSW
@NSWHealth funding #cardiovascular #medicalresearch to improve genetic testing for inherited heart disease. Computational approaches will sift through the millions of variants in #DNA of an individual to find the one change causing inherited heart disease. ow.ly/ZkXP50MNNXV
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Emma Singer me-retweet
Ever wondered what we do in the laboratory? Here is Emma @emssinger , my PhD student, who has described the work she does and she has posted a 'day-in-the-life' video for you all to view. Well done Emma! #IDWGS
Centenary Institute@CentenaryInst
On this International Day of Women and Girls in Science #IDWGS we pay tribute to the talented women at Centenary who are unlocking knowledge of complex diseases to help save lives. We also profile one of our shining stars, Emma Singer. More: centenary.org.au/news/internati…
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Emma Singer me-retweet
On this International Day of Women and Girls in Science #IDWGS we pay tribute to the talented women at Centenary who are unlocking knowledge of complex diseases to help save lives. We also profile one of our shining stars, Emma Singer. More: centenary.org.au/news/internati…
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Emma Singer me-retweet
In our latest Review, @GotthardtLab and colleagues discuss alternative splicing in the #heart as a diagnostic and therapeutic target: rdcu.be/c3LTf @victor__badillo, @MCarmoFonseca, @LarsMSteinmetz, @euanashley, @vnparikh, @ClaudiaCrocini
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Emma Singer me-retweet
Starting the year with a BANG 💥 Our second paper is now online! Huge congrats to co-first authors @FergusS13 @neeshakrishnan for this work out in @GenomeMedicine where we show the value of cardiac genetic testing BEYOND family screening bit.ly/3jRxJhU /1
Genome Medicine@GenomeMedicine
New #cardiacdisease and #genomics research from @jodieingles27 @FergusS13 @EbonyR_GC & co. @GarvanInstitute @MCRI_for_kids demonstrating the value of genomics in reaching overall diagnosis & highlighting inequities based on ancestry bit.ly/3jRxJhU
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Emma Singer me-retweet
Dr Bagnall presents a case study on a rare splice variant on SCN5A gene, and give us an insight of how RNA functional work can help with variant classification and clinical management for patient.
@rdbagnall #TeamCardio
#IPMB #RPAH #Bioinformatics
@SLHD_IPMB @CentenaryInst
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Emma Singer me-retweet
A nice commentary on our recent arrhythmia splicing study @Circ_Gen. I agree that we need to do high-throughput splicing studies that integrate into ACMG criteria--and hopefully the funding agencies agree too! @mjoneill95 @rodendm
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