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Polona Le Quesne Stabej

@polona.bsky.social
468 followers 503 following 6 posts

DVM PhD | Researcher at the University of Auckland | Genomics, variant interpretation | Rare diseases | Cancer, Molecular Tumour Boards | Inherited cardiac diseases | 🧬

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Polona Le Quesne Stabej @polona.bsky.social · 08/04/2026
DMPK 3′ untranslated repeat expansions in unexplained sudden cardiac death in the young url: academic.oup.com/eurheartj/ar...
academic.oup.com
DMPK 3′ untranslated repeat expansions in unexplained sudden cardiac death in the young
Sudden cardiac death (SCD) is the unexpected death of a previously healthy individual due to a known or suspected cardiac cause. In our Australian/New Zeal
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Reposted by Polona Le Quesne Stabej
Zornitza Stark @zornitza.bsky.social · 09/12/2024
📣 Out now in Genetics in Medicine: Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺 👉 authors.elsevier.com/a/1kDPZ3vlFV... Broad analysis and functional genomics for best outcomes 🏆 @ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social
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Reposted by Polona Le Quesne Stabej
Jodie Ingles @jodieingles27.bsky.social · 14/11/2024
Happy genetic counselor awareness day to all who observe this holiday 🧬 Genetic counselors are critical to delivery of genomic medicine. In Australia we have many genomic testing item numbers that fund testing, and yet we don’t reimburse genetic counsellors to deliver this… #genechat #medsky #gcad
Three genetic counsellors with genetic counsellor awareness days shirts on
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Polona Le Quesne Stabej @polona.bsky.social · 12/11/2024
Newborn genomics and beautiful nanopore whole genomes! Stretching over deletions, tackling pseudogenes ... I loved analysing data🧬. Led by Prof J O'Sullivan's team, Liggins, University of Auckland, New Zealand, in collab with #VCGS and NBG queen @zornitza.bsky.social 🤩who is on bsky! rdcu.be/dZx7z
rdcu.be
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
npj Genomic Medicine - Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
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