European Journal of Human Genetics
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European Journal of Human Genetics
@ejhg-journal.bsky.social
The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical, and cytogenetics research
📢 The latest issue of #EJHG is online!
The November issue explores how #genomic medicine is expanding across healthcare systems, #biobanking, collaborative platforms, and patient-centred perspectives. 🧬

www.nature.com/ejhg/volumes...
November 11, 2025 at 6:26 PM
📢 Welcome to the #EJHG October #JournalClub! 🧬
This month, we’re discussing: 'A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines'

➡️ www.nature.com/articles/s41...
November 3, 2025 at 8:46 AM
📢 No significant difference in genetic #counseling uptake between healthcare-mediated and family-mediated risk disclosure to 836 relatives at risk of #hereditary cancer. 🧬

📊 The largest RCT of its kind! ⬇️
www.nature.com/articles/s41...
October 24, 2025 at 9:48 AM
📢 Our new issue is online now!
This month, #EJHG covers the full spectrum of human #genetics: from novel gene discoveries and rare disease mechanisms to clinical applications and advances in genomic technology. 🧬

Explore the new issue via the link below! ⬇️
www.nature.com/ejhg/volumes...
October 8, 2025 at 7:55 AM
📢 Our latest issue is online now! #Genomics 🧬
The September issue presents an overview of genomic medicine, encompassing diagnostics, neurogenetics, health policy, digital innovation, and future training. @eshg.bsky.social

Find out more in the new issue of #EJHG ⬇️
www.nature.com/ejhg/volumes...
September 10, 2025 at 10:18 AM
📢 Welcome to this month’s #EJHG #JournalClub! 🧬
This month, we’re discussing: 'Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia' from the August issue!

www.nature.com/articles/s41...
September 8, 2025 at 9:16 AM
📢 It’s online now! 🚨 #Genetics #EJHG
From neurodevelopmental & neuromuscular disorders to genomic medicine in practice, the August issue of EJHG expands our understanding of rare diseases, diagnosis, treatment & ethics. 🧬 @eshg.bsky.social

⬇️ Read here: www.nature.com/ejhg/volumes...
August 19, 2025 at 8:43 AM
📢 Welcome to this month’s #EJHG #JournalClub! 🧬
This month, we’re discussing: 'Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort' from the July issue. @eshg.bsky.social

www.nature.com/articles/s41...
August 4, 2025 at 9:21 AM
🧬 The July issue of EJHG explores how chromosomal inversions, digenic inheritance, and novel gene discoveries shape our understanding of rare diseases and genomic diagnostics @eshg.bsky.social
📢 Now online! Follow the link below to explore the latest findings ⬇️⬇️
www.nature.com/ejhg/volumes...
July 14, 2025 at 8:53 AM