Alex Butters
@alexbutters25.bsky.social
Lab manager and Clinical Researcher, Clinical Genomics Lab, Garvan Institute | PhD in Health Disparities in Genetic Heart Disease & SCD | MPH | Conjoint Associate Lecturer, UNSW Medicine & Health
Reposted by Alex Butters
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
May 26, 2025 at 9:26 AM
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
Reposted by Alex Butters
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
May 26, 2025 at 8:37 AM
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
Reposted by Alex Butters
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
May 5, 2025 at 11:39 PM
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
#cardiogen #genechat
@jodieingles27.bsky.social
@garvaninstitute.bsky.social
Let me tell you a story about 2 patients we identified, both with a rare variant in TNNT2; NM_001001430.3: c.571-1G>A. Both had cardiac phenotypes and both had Oceanian ancestry
Our latest in EHJ! @alexbutters25.bsky.social @escardio.bsky.social #medsky #genechat #cardiosky
doi.org/10.1093/eurh...
Our latest in EHJ! @alexbutters25.bsky.social @escardio.bsky.social #medsky #genechat #cardiosky
doi.org/10.1093/eurh...
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets
Inherited cardiomyopathies, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies affect ∼1 in 200–500 in the population. Gen
doi.org
March 5, 2025 at 6:36 AM
Excited to share another paper from my PhD, out today in the EHJ!!
#cardiogen #genechat
@jodieingles27.bsky.social
@garvaninstitute.bsky.social
#cardiogen #genechat
@jodieingles27.bsky.social
@garvaninstitute.bsky.social
Reposted by Alex Butters
🚨 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
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
February 24, 2025 at 6:35 AM
🚨 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
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
February 24, 2025 at 6:12 AM
🚨 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
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
Reposted by Alex Butters
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...
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...
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously publishe…
www.sciencedirect.com
February 18, 2025 at 6:14 AM
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...
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...
Reposted by Alex Butters
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...
a beach with a lot of people on it
ALT: a beach with a lot of people on it
media.tenor.com
December 6, 2024 at 12:22 AM
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 🐾🐶
November 12, 2024 at 9:42 PM
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 🐾🐶