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Juliana Miranda Cerqueira @julianamiranda.bsky.social · 6d

Advances in Genetics | Volume 114: The Emerging Genomic Landscape of Complex Immune-mediated Traits | ScienceDirect.com by Elsevier

Read the latest chapters of Advances in Genetics at ScienceDirect.com, Elsevier’s leading platform of peer-reviewed scholarly literature

www.sciencedirect.com

Juliana Miranda Cerqueira @julianamiranda.bsky.social · 6d

📢 Thrilled to share the @Elsevier book 'The Emerging Genomic Landscape of Complex Immune-Mediated Traits' is out! 🧬 Honored to guest-edit & contribute a chapter. Big thanks to amazing collaborators across Europe & Brazil! #genomics #genetics #multiomics #celiacdisease #autoimmunity #bioinformatics

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Reposted by Juliana Miranda Cerqueira

eshgyoung.bsky.social @eshgyoung.bsky.social · 19d

Today was the last day of the 35th EuroDysmorpho Conference in Vilnius. The ESHG-Young contributed to the scientific content, and Silvia Kalantari, our current chair, had the chance to showcase our activities.

See you all in Pavia for #EuroDysmorpho 2026!

@eshg.bsky.social @silk93.bsky.social

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · 21d

We are deeply saddened by the passing of Albert Schinzel (1944–2025), former ESHG President and pioneer in clinical cytogenetics. His legacy includes the Catalogue of Unbalanced Chromosome Aberrations in Man and the Goldrain Course.

Read more:

Farewell to Albert Schinzel, former President of ESHG

09/18/2025

www.eshg.org

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · Jul 7

@ejhg-journal.bsky.social is now actively sharing updates, publications, and announcements on Bluesky.
If you haven’t connected with them yet, we’d love to invite you to follow the account.

European Journal of Human Genetics @ejhg-journal.bsky.social · Jul 1

Male Robertsonian translocation carriers are significantly more likely to produce balanced embryos via PGT, shaping counselling for couples on their reproductive journey. 🧬

⬇️⬇️
www.nature.com/articles/s41...

Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing - European Journal of Human Genetics

European Journal of Human Genetics - Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing

www.nature.com

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · Jul 17

📢 Episode 5 of the #ESHG Webinar Series is on Wednesday, July 30 at 16:00 CEST!
🧬 Speaker: Siddharth Banka: "From Chromatinopathies to Episignatures"
💻 Registration is free but required: wma.eventsair.com/eshg-webinar...
📩 Past registrants will receive the Zoom link automatically.

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · Jun 27

Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · Jun 12

🚀 AI is reshaping clinical genetics! This latest review by Duong & Solomon outlines how machine learning, deep learning, and generative AI are transforming diagnostics, management, lab workflows, and administrative processes

🔗 Open-access review👇

www.nature.com/articles/s41...

Artificial intelligence in clinical genetics - European Journal of Human Genetics

European Journal of Human Genetics - Artificial intelligence in clinical genetics

www.nature.com

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · Jun 12

The Greek government’s decision to delegate newborn screening to private organisations without prior public consultation raises concerns about transparency and ethical oversight. Read the full ESHG statement for details: www.eshg.org/news-home/fo... #NewbornScreening #PublicHealth #eshg

ESHG: 2025 Press Releases

The news that the Greek government has entrusted newborn screening to private organisations raises many concerns. Newborn screening is a vital public health initiative, and significant efforts are…

www.eshg.org

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · Jun 16

📢 Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST!
🧬 Speaker: Kaitlin Samocha on variant interpretation using population data
💻 Registration is free but mandatory: wma.eventsair.com/eshg-webinar...
📩 Past registrants will receive the Zoom link automatically.

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · Jun 2

🧠 New Insights on reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.

This research highlights how even being a carrier of variants in genes associated with ID may impact cognitive development and academic outcomes.

www.nature.com/articles/s41...

#CognitiveScience

Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants - Nature Human Behaviour

Fridman, Khazeeva et al. show associations of reproductive phenotypes and educational attainment in heterozygotic carriers of pathogenic variants associated with recessive conditions.

www.nature.com

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Juliana Miranda Cerqueira @julianamiranda.bsky.social · May 28

We thank you @iamslambert.bsky.social for the incredible contribution to this course! A unique opportunity for attendees to gain insights into large-scale genomic databases like @pgscatalog.bsky.social. 🙌 #ESHG2025

Sam Lambert @iamslambert.bsky.social · May 23

Great fun sharing the @pgscatalog.bsky.social at the pre- #ESHG25 course on open-source genomics resources. Thanks to Juliana Cerqueira and Inga Prokopenko for the invite!

Looking forward to the rest of the conference!

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Juliana Miranda Cerqueira @julianamiranda.bsky.social · May 27

Grateful to EduComm @eshg.bsky.social for this amazing opportunity. Huge thanks to @gosiatrynka.bsky.social for hosting me at @sangerinstitute.bsky.social and to my supervisor @KatriLindfors for her support. This observership has expanded my academic aspirations ahead for sure. #eshg2025

European Society of Human Genetics @eshg.bsky.social · May 27

ESHG Observership scheme awardees 2025
• Purvi Majethia India to Manchester, UK
• Luiza Lorena Pires Ramos Belgium to Stockholm, Sweden
• Juliana Miranda Cerqueira Finland to Cambridge, UK
• Vanessa Sousa Portugal to Leuven, Belgium
• Sílvia Pires Portugal to Jena, Germany

#ESHG2025

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

ESHG Mentorship scheme awardees 2025
• Nesibe Bulut Turkey to Vienna, Austria
• Tea Mladenić Croatia to Jena, Germany
• Melda Erdoğdu Turkey to Linköping, Sweden
• Lein Dofash Australia to Exeter, UK
• Daniela Oliveira Portugal to Stockholm, Sweden

#ESHG2025

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

#ESHG2025 Dian Donnai and Jill Clayton-Smith Prize for Dysmorphology 2025

Winner: Emre Akbas, Eskisehir, Turkey

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

SHG2025 ELPAG Early Career Award
for the best presentation on Ethical, Legal and Psychosocial Aspects of Genetics

Tara Maria Hoffmann, Hamburg, Germany

"Identity Crisis and Emotional Strain in Parents of Children with Rare and Undiagnosed Conditions: A Qualitative Study"

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

#ESHG2025 Mia Neri Award
for best presentation in cancer research.

Jingzhan Lu,Exeter, United Kingdom

"Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

#ESHG2025 Vienna Medical Academy Award:
Best presentation in translational genetic reserach/therapy of genetic diseases.

Christina Marie Kajba, London, UK

"A pooled prime editing platform in haploid human cells for high throughput variant screening"

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

#ESHG2025 Lodewijk Sandkuijl Award:
Best presentation in the field of complex disease and statistical genetics.

Cal Liao, Cambridge, United States

"The landscape of structural variation in bipolar disorder and schizophrenia across the frequency spectrum of diverse populations"

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

#ESHG2025 Isabelle Oberlé Award:
Best presentation by an ECR on research concerning the genetics of intellectual disability.

Natalie B. Tan, Parkville, Australia

"UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

ESHG2025# Early Career awards:
For outstanding science presented at the conference

- Allison Newman, Exeter, UK
- Hristiana Lyubenova, Berlin, Germany
- Robin J. Hofmeister, Lausanne, Switzerland
- Pau Clavell-Revelles, Barcelona, Spain

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

Best Poster in Clinical Research

Rebeka Luknárová, Munich, Germany

P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

#ESHG2025 Best Poster in Basic Research

Eva Vanbelleghem, Ghent, Belgium

P06.004.C – "Zebrafish as a model for Myhre syndrome: growth deficits and vascular narrowing"

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

#ESHG2025 Poster Prize: Honorary Mentions:
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)

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Reposted by Juliana Miranda Cerqueira

European Society of Human Genetics @eshg.bsky.social · May 27

GertJan van Ommen Citation Awards:

1. Analysis of large-language model versus human performance for genetics questions.
2. Dutch Pharmacogenetics Working Group (DPWG) guideline
3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing

#ESHG2025

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