European Journal of Human Genetics
@ejhg-journal
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 the European Journal of Human Genetics is online! 🧬 ✨ From #RareDiseases and #HereditaryCancers, to #VariantInterpretation, and ethical challenges in genomic medicine, explore the the latest articles in the August issue of #EJHG. 🔗: www.nature.com/ejhg/volumes...
📢 Registration is now open! ⬇️ Join the ESHG course “Translational Epigenetics in Precision Medicine” 🧬 📍Telavi, Georgia 🗓️ 31 October-3 November 2026 🎓 ESHG Fellowships available ⏳ Fellowship application deadline: 10 September 2026 🔗Learn more and apply: geneticsgeorgia.org/language/en/...
📢 Welcome to this month's #EJHG #JournalClub! We're discussing: "Transcription-based identification of uncharacterized genes in the human immune response" from our July issue. 🧬 @ahoischen.bsky.social @emilvorsteveld.bsky.social 🔗 Read the full text: www.nature.com/articles/s41...
📢 The July issue of the European Journal of Human Genetics is online! 🧬 From novel gene discovery and #RareDiseases to #GeneticCounselling, this issue brings together the latest advances in #HumanGenetics 🔗 Explore the latest issue of #EJHG ⬇️ www.nature.com/ejhg/volumes...
📢 Congratulations to the winners of the GertJan Van Ommen Citation Awards #ESHG2026! 🧬
📖 Looking for some reading ahead of #ESHG2026? The latest issue of #EJHG is now online! 🧬 📢 Explore the latest research featured in the June issue of EJHG and get ready for a few inspiring days of science in Gothenburg! #HumanGenetics #RareDisease 🔗 Read more: www.nature.com/ejhg/volumes...
📢 Our latest issue is online now! 🧬 The May issue of #EJHG explores expanding genotype-phenotype associations in rare diseases, and highlights advances in genomic diagnostics and clinical implementation. 🔗 Read more: www.nature.com/ejhg/volumes...
📢 Welcome to our #JournalClub this month! We're discussing a study, exploring the high clinical stakes of "silent" variants and the power of local cohort reanalysis, from our April issue. 🧬 ➡️ www.nature.com/articles/s41...
📢 Our April issue is online! This issue of #EJHG expands our understanding from rare neurodevelopmental disorders to genetic insights into cardiovascular, dermatological, and muscular diseases. 🧬 🔗 Read more: www.nature.com/ejhg/volumes...
📢 Welcome to our #JournalClub! 🧬 This month, we are discussing: "TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome" from the latest issue of #EJHG 🔗 www.nature.com/articles/s41...
📢 The latest issue of the #EJHG is now online! Highlighting novel disease genes, expanded genotype–phenotype correlations, and new insights into rare disorders, genomic diagnostics, and personalised care. 🧬 🔗 Read more in the March issue: www.nature.com/ejhg/volumes...
Rare diseases affect approximately 300 million people worldwide. Over 70% are genetic, yet many still face diagnostic delays and limited access to care. Advancing #HumanGenetics research is essential for better diagnosis and lifelong outcomes. 🧬 #RareDiseaseDay #RareButNotAlone
📢 The latest issue of #EJHG is now online. Highlighting novel genes and genotype–phenotype relationships, and advances in clinical and population genomics. 🧬 Read more in the February issue! ⬇️ www.nature.com/ejhg/volumes...
Welcome to this month’s #JournalClub! 🧬 📢 We are discussing: "Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making" from our January issue of #EJHG www.nature.com/articles/s41...
Could a rare-disease patient passport streamline care? 🧬 📢 Pilot study shows it improves communication, confidence, and access to care for patients & caregivers. #RareDisease #PatientExperience #HealthcareInnovation Find out more ➡️ www.nature.com/articles/s41...
📢 The January issue is now online! 🧬 Recent studies, new perspectives, and key advances in #HumanGenetics, all in the first issue of the year ⬇️ www.nature.com/ejhg/volumes...
#HappyNewYear! 🎉🧬 📢 The #EJHG is also on LinkedIn and Instagram! Follow us for updates, highlights, and scientific conversations in 2026 ⬇️ 🔗 LinkedIn: www.linkedin.com/in/ejhg-euro... 🔗 Instagram: www.instagram.com/ejhg.journal/ Here’s to a science-filled year ahead ✨ #Genetics
📢 Welcome to our December #JournalClub! 🧬 This month, we’re discussing: "PIGC-related encephalopathy: Lessons learned from 18 new probands" from the latest issue of #EJHG 🔗 www.nature.com/articles/s41...
📢 The December issue of #EJHG is online! 🧬 New genes, new discoveries, new insights in #HumanGenetics ⬇️⬇️⬇️ www.nature.com/ejhg/volumes...
📢 Welcome to this month’s #JournalClub! 🧬 We’re discussing: “Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish” from the November issue of #EJHG www.nature.com/articles/s41...
📢 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...
📢 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...
📢 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...
📢 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...
📢 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...
📢 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...
📢 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...
🧬 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...