Thank you for selecting me as an Oral Abstract Finalist and giving me the opportunity to present work from my #PhD on Splicing in Inherited Heart Disease. First talk at an international conference - all I can say, 12 year old me would be proud. 🧬💚 #ICCG2022@thecsanz
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.
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. https://t.co/guuho7qfFH
Our new study: TBX20 loss-of-function variants are a rare cause of LVNC and support TBX20 inclusion in genetic testing of LVNC. https://t.co/UKDc2CFJO9 Great work by @IchAuch_CC Funded by @NSWHealth
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
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: https://t.co/tbrfDmrF8Z
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 https://t.co/Hon9IUbRp9 /1
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