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stefanbarakat.bsky.social
Stefan Barakat
@stefanbarakat.bsky.social
27 followers 88 following 8 posts
Associate Professor at Erasmus MC. MD, PhD, Clinical Geneticist, interested in gene regulation and the non-coding genome, bridging research and patient care
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stefanbarakat.bsky.social
Stefan Barakat @stefanbarakat.bsky.social · 24d
It took a while, but finally the Barakat lab is also on Bluesky! Come and follow us if you are interested in our research on genetic causes of neurodevelopmental disorders, the noncoding genome, functional genomics and much more happening in Rotterdam!
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stefanbarakat.bsky.social
Stefan Barakat @stefanbarakat.bsky.social · 6d
new international collaborative work incl. our group on EPG5
#genetics, #raredisease #EPG5, #NDD

onlinelibrary.wiley.com/doi/10.1002/...
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for cleara.....
onlinelibrary.wiley.com
stefanbarakat.bsky.social
Stefan Barakat @stefanbarakat.bsky.social · 8d
new recent publication from us in Rotterdam on RNA analysis for rare disease diagnostics #genetics #RNA #raredisease @hggadvances.bsky.social @erasmusmc.bsky.social
hggadvances.bsky.social
Human Genetics and Genomics Advances @hggadvances.bsky.social · 20d
🚨Online now!
📄Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
👉https://tinyurl.com/4wvwf7yy
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stefanbarakat.bsky.social
Stefan Barakat @stefanbarakat.bsky.social · 8d
and some more new work incl. us in @hggadvances.bsky.social
hggadvances.bsky.social
Human Genetics and Genomics Advances @hggadvances.bsky.social · Aug 29
📣New from @deveshp.bsky.social & co!
📄Targeted plasma #proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders
👉https://tinyurl.com/t53jhthu
Reposted by Stefan Barakat
hggadvances.bsky.social
Human Genetics and Genomics Advances @hggadvances.bsky.social · 14d
📣New from Ferraro et al!
📄Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
👉 tinyurl.com/59puc9km
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stefanbarakat.bsky.social
Stefan Barakat @stefanbarakat.bsky.social · 8d
New paper from us in Rotterdam:
"Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome"

www.sciencedirect.com/science/arti...

@hggadvances.bsky.social , Federico Ferraro, Tjakko van Ham, Marieke van Dooren and others #lrWGS
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stefanbarakat.bsky.social
Stefan Barakat @stefanbarakat.bsky.social · 20d
Join us today at Sept 23rd2025 from 5pm to 6.30 pm (Central European Time) for our ERN ITHACA webinar on the non-coding genome and human disease by @svergult.bsky.social , @mspielmann.bsky.social , Florence Petit and @stefanbarakat.bsky.social

ern-ithaca.eu/events-news/...
ERN-ITHACA WEBINAR: NON-CODING GENOME AND HUMAN DISEASE - ERN ITHACA
Recent developments in genomic technologies have enabled the genome-wide identification of regulatory elements and chromatin interactions, controlling the spatiotemporal gene expression. In this webin...
ern-ithaca.eu
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stefanbarakat.bsky.social
Stefan Barakat @stefanbarakat.bsky.social · 24d
It took a while, but finally the Barakat lab is also on Bluesky! Come and follow us if you are interested in our research on genetic causes of neurodevelopmental disorders, the noncoding genome, functional genomics and much more happening in Rotterdam!
4
stefanbarakat.bsky.social
Stefan Barakat @stefanbarakat.bsky.social · 24d
New international collaborative work incl. our group @erasmusmc.bsky.social on MACF1 published @ajhgnews.bsky.social
A clinical and genotype-phenotype analysis of MACF1 variants www.sciencedirect.com/science/arti...
#raredisease #genetics
A clinical and genotype-phenotype analysis of MACF1 variants
Microtubule-actin cross-linking factor 1 (MACF1) is a large protein of the spectraplakin family, which is essential for brain development. MACF1 inter…
www.sciencedirect.com
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stefanbarakat.bsky.social
Stefan Barakat @stefanbarakat.bsky.social · 24d
Thanks for highlighting our recent paper on the clinical utility of DNAmethylation signatures @eshg.bsky.social
#raredisease #genetics #genomics #epigenetics
eshg.bsky.social
European Society of Human Genetics @eshg.bsky.social · Sep 1
Published in EJHG Journal:
📊 DNAmethylation signatures support VUS reclassification and complement negative genetic tests. This approach boosts diagnostic yield in neurodevelopmental disorders, proving its clinical utility in routine diagnostics. ✅

www.nature.com/articles/s41...
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders - European Journal of Human Genetics
European Journal of Human Genetics - Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders
www.nature.com
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Reposted by Stefan Barakat
eshg.bsky.social
European Society of Human Genetics @eshg.bsky.social · Sep 1
Published in EJHG Journal:
📊 DNAmethylation signatures support VUS reclassification and complement negative genetic tests. This approach boosts diagnostic yield in neurodevelopmental disorders, proving its clinical utility in routine diagnostics. ✅

www.nature.com/articles/s41...
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders - European Journal of Human Genetics
European Journal of Human Genetics - Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders
www.nature.com
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