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Best try in quite some time for 🏉🇮🇹💪🔥

Want to know more on the dominance/recessiveness spectrum in cardiomyopathy? 🫀🧬 Check out the 🧵below by Roddy Walsh 🇪🇺 🇺🇦 and our new study published by Nature Cardiovascular Research 👇 Excellent team work with Alex Lipov, Sean Jurgens and colleagues 🎯 Paper here: nature.com/articles/s4416…

First of a series of "IDs" of the main recessive cardiomyopathy genes, in light of our recent work published by Nature Cardiovascular Research 🫀🧬 ⬇️ BAG5 on the stage! ⬇️ #cardiogen #CardioTwitter #genetics

New week, new gene...! ⬇️🔥

Our latest #recessiveCMgenes summary is for TRIM63, probably the most prevalent biallelic gene for hypertrophic cardiomyopathy and one with several unique characteristics. See the full details in our recent Nature Cardiovascular Research study nature.com/articles/s4416…

Next in our series of recessive cardiomyopathy genes: RPL3L. A great example of a gene harboring a spectrum of phenotypes across allele zygosity! #recessiveCMgenes See the full details in our recent Nature Cardiovascular Research study nature.com/articles/s4416… Roddy Walsh 🇪🇺 🇺🇦 Francesco Mazzarotto

Incredible example of how non-coding RNAs can bear important (and often unexpected) findings

Guideline text is leaning heavily on the word “usually” here - though true in that context. But much more efficient to do comprehensive testing first time rather than reserving analysis of genes that are more rarely causal to those who test negative for the traditional 8…

Thank you so much for the invitation, the opportunity and the fruitful and good time together with you all!

What a result.... 💥 So grateful and proud to collaborate with and be part of such an amazing institution 🙏 #imperialcollege #QSWUR

Finally out! 🔥 Really enjoyed working on this review on genome-wide associations with variants other than SNPs 🧬 Learnt a lot from a great team - feeling blessed and loving this! Review here: nature.com/articles/s4157… Thread by Nature Reviews Genetics below ⬇️

Genome-wide association studies focusing on SNPs have advanced our understanding of certain diseases but are reaching limits for some conditions. This Nature Reviews Genetics review highlights how exploring copy number variation can help break these limits. nature.com/articles/s4157…

Congratulations Sean Zheng James Ware and the many others who worked toward this incredible effort! Very grateful for having had the chance to contribute, even in a small way, to this new HCM GWAS 🧬🫀 #cardiogen #gwas #prs