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Jodie Ingles

@jodieingles27.bsky.social

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Jodie Ingles @jodieingles27.bsky.social · Feb 18

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...

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

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Reposted by Jodie Ingles

Tatiane Yanes @tatyanes.bsky.social · 6d

Are you an Australasian GC who has done research this year? Then apply to the @gcr-connect.bsky.social showcase. Prizes are available for top abstract. Details 👇
@jodieingles27.bsky.social @laurayeates1.bsky.social @amandamwillis.bsky.social @genetic-fi.bsky.social @sarahred.bsky.social

GCR Connect @gcr-connect.bsky.social · 6d

🚨 Reminder: Abstracts due soon! 🚨
Submit by 5pm Fri 10 Oct for the chance to present at the GCR Connect End of Year Showcase 🎤 (Thurs 13 Nov).

Top abstract wins $100 prize 🏆
📩 Send your abstract (≤250 words) to Kirsten Boggs

For more information see the ASGC newsletter

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Jodie Ingles @jodieingles27.bsky.social · Aug 18

Two genetic counseling legends - plenary speaker @hz103.bsky.social and session chair @laurayeates1.bsky.social at #hgsa2025 🇦🇺 #genechat

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Reposted by Jodie Ingles

Tatiane Yanes @tatyanes.bsky.social · Aug 15

I’m honoured to have been awarded a Young Tall Poppy Science Award for 2025, among a cohort of inspiring researchers from across QLD and Australia. The Young Tall Poppy award celebrates excellence in research and a passion for sharing science with the broader community.

10 UQ researchers receive Tall Poppy Science Awards

Ten UQ researchers have been awarded Young Tall Poppy Science Awards, celebrating their research impact and passion for inspiring young people to pursue STEM careers.

news.uq.edu.au

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Jodie Ingles @jodieingles27.bsky.social · Aug 16

Ha! That’s amazing. She made us mute so we wouldn’t be loud 🤣

Jodie Ingles @jodieingles27.bsky.social · Aug 16

At #csanz2025 but getting to watch my awesome genetic counsellor, Amy Baker, present our Elusive Hearts study data at #hgsa2025 via FaceTime #cardiogen #goteam 🏆

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Jodie Ingles @jodieingles27.bsky.social · Aug 16

How lucky are we with Dr Carolyn Ho joining us in Brisbane for #CSANZ2025 highlighting some of the challenges with new therapy options in #hypertrophiccardiomyopathy from this beautiful new review! www.cell.com/cell/abstrac... @sharday-penn.bsky.social

Jodie Ingles @jodieingles27.bsky.social · Aug 16

Awesome talk from @alberthenry.bsky.social from the Translational Genomics Program at @garvaninstitute.bsky.social on understanding polygenic contributors to dilated cardiomyopathy #csanz2025 #cardiosky 🧬 🌟 @tomlumbers.bsky.social @jamesware.bsky.social @scientistshah.bsky.social

Jodie Ingles @jodieingles27.bsky.social · Aug 16

A/Prof Belinda Gray presenting on genetic testing in athletes at #csanz2025 👏🏻 #cardiogen #cardiosky www.heartrhythmjournal.com/article/S154...

Jodie Ingles @jodieingles27.bsky.social · Aug 16

Awesome to see this huge paper out and being presented by @fatkin-lab.bsky.social at #csanz2025 Factors influencing penetrance among TTNtv carriers @victorchang.edu.au #cardiogen #cardiosky academic.oup.com/eurheartj/ad...

Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention.

pubmed.ncbi.nlm.nih.gov

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Jodie Ingles @jodieingles27.bsky.social · Aug 14

Getting science done 🧪 🧬 @jnovembre.bsky.social @dgmacarthur.bsky.social @ee-reh-neh.bsky.social

6 young highly accomplished people who love genetics eating vegetarian food

Reposted by Jodie Ingles

John Novembre @jnovembre.bsky.social · Jun 5

Excited for our publication on how the geographic scale of a sample affects the discovery of rare, deleterious variants to be out this week. With a mix of theory, simulation, and data analysis, we show when samples are narrow vs broad, the number of variants discovered and their frequencies change

PNAS

Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...

www.pnas.org

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Reposted by Jodie Ingles

rebeccakozor.bsky.social @rebeccakozor.bsky.social · Aug 10

Thursday #CSANZ2025 is packed with so many great meetings! I’ll be going between the imaging, heart failure and genetics meetings. Which one will you attend? @anastasiasmihaili.bsky.social @mugander.bsky.social

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Jodie Ingles @jodieingles27.bsky.social · Aug 9

Well. That was a big morning! @garvaninstitute.bsky.social

Reposted by Jodie Ingles

Jehannine (J9) Austin @j9austin.bsky.social · Jul 1

July is #DisabilityPride month and to mark it, the Journal of Genetic Counseling has a special virtual issue of papers, curated by @tashawainstein.bsky.social - they’re all free to read for the month of July! So, please do so, enjoy, and share! onlinelibrary.wiley.com/doi/toc/10.1...

Disability Pride Month: Journal of Genetic Counseling

Click on the title to browse this issue

onlinelibrary.wiley.com

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Reposted by Jodie Ingles

euanashley @euanashley.bsky.social · Jun 14

Atul Butte died yesterday.
The world lost a giant.
A big bear of a man.
With a huge smile.
With love for everyone.
With energy that could power a room.
I loved everything about Atul.
I loved how he was always happy.
I loved how excited he was about science and helping people.

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Reposted by Jodie Ingles

Jehannine (J9) Austin @j9austin.bsky.social · Jun 13

Thrilled to share the Journal of Genetic Counseling's Special issue on Research Methods! Including "how to" papers on:
Stats! Grounded theory! Interpretive Phenomenological analysis! Content analysis! Mixed methods! Surveys! Chart review! etc!
onlinelibrary.wiley.com/doi/toc/10.1... #AcademicSky 🧪

Research Methods in Genetic Counseling: Journal of Genetic Counseling

Click on the title to browse this issue

onlinelibrary.wiley.com

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Reposted by Jodie Ingles

The American Journal of Human Genetics @ajhgnews.bsky.social · May 28

📣New today!
📄Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
🧑‍🤝‍🧑 @iliasgoranitis.bsky.social @zornitza.bsky.social & co

Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia

Genomics will potentially transform newborn screening programs globally. To inform implementation, we surveyed 2,509 members of the Australian public to understand the importance they place on key asp...

www.cell.com

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Jodie Ingles @jodieingles27.bsky.social · May 28

Following up some outstanding days in Milan, with spectacular Padua 😍

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Jodie Ingles @jodieingles27.bsky.social · May 27

What a super star 🌟 @dgmacarthur.bsky.social being awarded the #eshg2025 prize and delivering an inspiring prize lecture @garvaninstitute.bsky.social @mcri.bsky.social #dontworkwithassholes

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Reposted by Jodie Ingles

James Fasham @jamesfasham.bsky.social · May 26

Nicola Whiffin @nickywhiffin.bsky.social #ESHG2025

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

Saturation mutagenesis outperforms CADD

Novel *AR* NDD with neuroradiological features (below) - ~30 families #MorbidGene

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Reposted by Jodie Ingles

Zornitza Stark @zornitza.bsky.social · May 26

Too much great stuff on this morning #ESHG2025, on at sequencing square: lightening poster talks! @genomeseb.bsky.social now presenting results from the BabyScreen+ study

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Reposted by Jodie Ingles

Jehannine (J9) Austin @j9austin.bsky.social · May 26

Here’s a group of some of the members of the editorial board of the Journal of Genetic Counseling who are present here at #Eshg2025 - we should have an editorial board meeting here next time! #GeneChat

Some of the members of the editorial board of the Journal of Genetic Counseling, standing in a row and smiling at the camera. Left to right: Alison McEwen (special issue guest editor), Bianca Rousseau, Ramona Moldovan, J9 Austin, Andra Ciuca, Tasha Weinstein- also here but not in pic: Tara Clancy, Christophe cordier, Jodie Inglis.

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Jodie Ingles @jodieingles27.bsky.social · May 26

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

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Jodie Ingles @jodieingles27.bsky.social · May 26

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

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