Christoph Sandmann

Happy to share our latest manuscript highlighting variability in genetic testing practices for HCM in children across 34 international centers. Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy jmg.bmj.com/content/early/…

Application of a ImageJ-Based Method to Measure Blood Flow in Adult Zebrafish and Its Applications for Toxicological and Pharmacological Assessments #zebrafish #ImageJ #bloodflow #toxicoloy mdpi.com/2079-7737/14/1…

🔬New in @JACCJournals: HCM diagnosis criteria show unexpected demographic bias. Study of 50,000+ hearts reveals current thresholds create 8:1 male-female ratio Proposing demographic-adjusted thresholds to improve diagnosis🫀 authors.elsevier.com/a/1kPE52d9GH~T… @UCL_ICS @NHSBartsHealth

Hot off the press! Excited to share our work ‘Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy’ published in JACC BTS! Huge shoutout to all co-authors who stuck with us!! jacc.org/doi/epdf/10.10…

Great study evaluating low penetrance sarcomere variants in HCM. ahajournals.org/doi/abs/10.116…

Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophi... sciencedirect.com/science/articl… Fantastic study showing evidence that MEKi is effective in the treatment of selected patients with RAS-HCM carrying genetic variants with activating effects on RAS/MAPK signaling!

What is the role of common genetic variation in dilated cardiomyopathy (DCM) 🧬 and what causal pathways underlie the disease? 🫀 Happy to share our GWAS for DCM, published last week in @NatureGenet nature.com/articles/s4158… @amsterdamumc @broadinstitute A detailed 🧵below:

Great study by my colleague @jan_lanzer and the @saezlab: A cross-study transcriptional patient map of heart failure defines conserved multicellular coordination in cardiac remodeling biorxiv.org/cgi/content/sh… #biorxiv_sysbio

Geometrically balanced model of cell growth biorxiv.org/cgi/content/sh… #biorxiv_sysbio

Genetic Landscape of Patients With Dilated Cardiomyopathy and a System... sciencedirect.com/science/articl…

See our paper in GIM here. If you publish on variants, PLEASE use variantvalidator.org, or even better, just submit them to ClinVar before article submission (you can request a 6 month embargo), to both validate your variant naming AND make them findable by all!

SUPER excited to share that my latest research has been published in @CellGenomics! Check out the thread below to explore our findings on the distinct gene regulatory programs that drive human cardiomyocyte development (1/n) 🫀 cell.com/cell-genomics/…

@LucieCarrier84 lab provide evidence that targeting #tubulin #tyrosination could be a novel approach for improving heart function in patients with #HCM. Learn more at ahajrnls.org/3A2ZuMP @Prosser_Lab @mcaporizzo @CyxChristina @dirkwestermann @LucasBacmeister

Gene panel testing searches for causative rare coding variants among individuals with suspected inherited cardiovascular conditions. In new study, a rare noncoding variant in an SCN5A enhancer is 45-fold enriched in BrS in Thailand with hiPSC validation. ahajournals.org/doi/suppl/10.1……

#ICYMI: Translational regulation after cardiac reperfusion #AHAJournals @ChrlsHofmann @VolkersMirko @dzhk_germany @uniklinik_hd @Finke_d_ @TobiasJakob

Thrilled to share our latest work on lipid nanoparticle (LNP) delivery of a stable CRISPR-Cas9 ribonucleoprotein (RNP) for in vivo genome editing, now published @NatureBiotech! 🧬 nature.com/articles/s4158… In this paper, we first engineered robust, efficient, and stable…