Our second #eshg poster - another phenotype expansion, mucolipidosis III (lysosomal storage disorder) with cardiac features including LV/RV fibrofatty replacement, LVH and ventricular arrhythmia (+skeletal dysplasia) @njhenden.bsky.social @nataliepstewart.bsky.social

Our amazing variant curator @njhenden.bsky.social presenting at #ESHG2025 - homozygous variant in SECISBP2 causing a severe perinatal cardiomyopathy - expanding the phenotype spectrum of selenoprotein deficiency disorders @nataliepstewart.bsky.social @amybakerlms.bsky.social

This is how our zoom meetings roll... Rosie and Willow getting in on the lab management discussions. They think we should do more sequencing @alexbutters25.bsky.social #cardiosky #dogsky

Excited to share another paper from my PhD, out today in the EHJ!! #cardiogen #genechat @jodieingles27.bsky.social @garvaninstitute.bsky.social

Well done to @alexbutters25.bsky.social on another PhD study out in the wild! #cardiogen #cardiosky

🚨 New paper alert! 🚨 Using SHaRe registry data, we explored how clinical & genetic risk factors influence heart failure, arrhythmias, and mortality in men & women with HCM. This study, from my PhD, emphasises the need for sex-specific approaches to improve care. 📖 Read more: bit.ly/41vlF9r

Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29 Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social www.sciencedirect.com/science/arti...

We are HIRING a postdoc! Are you into cardiovascular genomics? Does gene discovery and rare variants get you out of bed!? OMG, me too! Unfortunately i can't apply for this role, but YOU CAN! Come join our research lab at @garvaninstitute.bsky.social Sydney 🇦🇺 #genesky www.seek.com.au/Garvan-Insti...

Another newbie here! I’m a clinical researcher and lab manager, with a focus on genetic heart disease and health disparities, based in Melbourne, Australia. Introducing my puppy, Rosie, my constant shadow 🐾🐶