@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
📢 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...
📢 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...
Just published in @ejhg-journal.bsky.social:
🧬CACNB1 N-terminal variants cause a novel congenital muscular disorder. Long-read transcriptomics in human myotubes provides detailed profiling of CACNB1 muscle isoforms.
Full paper:
www.nature.com/articles/s41...
📢 September’s #AltmetricChampion!
Spotlight paper this month: ‘Not all pathogenic variants are in coding regions! A review of Mendelian disease–causing UTR variants' 🧬
Read here ⬇️
#Genetics #UTR #VariantInterpretation
📢 Patients & healthcare workers show strong support for #biobanking, but concerns remain, privacy, genetic discrimination, & specimen handling. Addressing these could boost participation & streamline research. 🧬
www.nature.com/articles/s41...
📢 The Genetics Navigator, co-designed with patients and clinicians, supports diverse genetic testing needs, providing education, counselling, decision support & results management. 🧬
www.nature.com/articles/s41...
📢 Funded #genomic tests are available in Australia, but why are paediatricians ordering <25% of predicted? Capability, opportunity & motivation barriers persist. Awareness, hands-on learning & practical resources may drive faster, fairer genomics integration 🧬
➡️ www.nature.com/articles/s41...
📢 Funded #genomic tests are available in Australia, but why are paediatricians ordering <25% of predicted? Capability, opportunity & motivation barriers persist. Awareness, hands-on learning & practical resources may drive faster, fairer genomics integration 🧬
➡️ www.nature.com/articles/s41...
📢 ~8% of prostate cancer patients carry germline pathogenic variants, mainly in DNA repair genes. These mutations are linked to aggressive disease and inform targeted treatment decisions. 🧬
#ProstateCancer #Genetics #EJHG
To read more ⬇️
www.nature.com/articles/s41...
📢 The largest overview of #NEB structural variant–associated muscle disorders: Large deletions in NEB are now clearly linked to distal muscle weakness, expanding our understanding of recessive and dominant #myopathies. 🧬
#EJHG #genetics
www.nature.com/articles/s41...
📢 Next-generation sequencing (NGS) panels are effective for diagnosing adult neurogenetic disorders in an African LMIC, achieving a 39.5% diagnostic yield comparable to high-income countries. 🧬
#NextGenSequencing #GeneticDiagnosis #EJHG
www.nature.com/articles/s41...
📢 16p13.3 microdeletions disrupt neurodevelopment through diverse DNA repair pathways, revealing the complex biology behind these structural changes. 🧬
www.nature.com/articles/s41...
📢 #SH2B3 loss-of-function variants cause neonatal myeloproliferative disease that often resolves but later leads to thrombocytosis and multisystemic features such as delayed growth, neurological impairment, and autoimmune disorders. 🧬
Find out more ⬇️
www.nature.com/articles/s41...
📢 #ATXN2 CAG-repeat expansions, whether intermediate or full, are a risk for ALS. Their pleiotropy covers #ALS, #SCA2, #Parkinsonism & dementia, unified as ATXN2-related neurodegeneration. 🧠🧬
#Genetics #Neurodegeneration #ejhg
www.nature.com/articles/s41...
📢 #ATXN2 CAG-repeat expansions, whether intermediate or full, are a risk for ALS. Their pleiotropy covers #ALS, #SCA2, #Parkinsonism & dementia, unified as ATXN2-related neurodegeneration. 🧠🧬
#Genetics #Neurodegeneration #ejhg
www.nature.com/articles/s41...
🏆 August’s #AltmetricChampion is here!
Most discussed paper this month: ‘Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system, 2014–2023’ 🧬
Read in #EJHG ⬇️
Comment to the new insights offered by this new important study from @lotsb.bsky.social and future directions 👇🏼
www.nature.com/articles/s41...
Not all pathogenic variants are in coding regions! 👀
📢 This review highlights Mendelian disease-causing UTR variants, their mechanisms, and implications for clinical interpretation. 🧬 #Mendelian #UTRvariants #ejhg
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...
📢 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...
Published in @ejhg-journal.bsky.social:
1️⃣ European Certificate in Medical Genetics & Genomics (ECMGG): buff.ly/CUpaOWd
2️⃣ European Training Requirements for Medical Genetics (ETR-MG): buff.ly/DgCPtde
🏆 August’s #AltmetricChampion is here!
Most discussed paper this month: ‘Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system, 2014–2023’ 🧬
Read in #EJHG ⬇️
📢 Genetic & genomic testing have grown rapidly over the past decade, yet they still represent only a modest slice of healthcare.
www.nature.com/articles/s41...
📢 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...
Moreover, this will enable the identification of patients who could benefit from CoQ10 supplementation.
08.09.2025 09:17 — 👍 0 🔁 0 💬 0 📌 0Until now, COQ9 mutations have been shown to cause severe neonatal multisystemic disorders. This study expands the clinical spectrum of CoQ10 deficiencies resulting from deleterious COQ9 mutations.
08.09.2025 09:17 — 👍 0 🔁 0 💬 1 📌 0It was demonstrated that this variant affects exon 1 splicing, reduces the expression of COQ9 and one of its partner COQ7, reduces CoQ10 level in muscle and fibroblasts associated with a mitochondrial dysfunction, and reduces fibroblast proliferation.
08.09.2025 09:17 — 👍 1 🔁 0 💬 1 📌 0Using whole-exome sequencing, a novel homozygous variant in COQ9, involved in CoQ10 biosynthesis, was identified in two siblings affected by pure spastic paraplegia with childhood onset.
08.09.2025 09:17 — 👍 0 🔁 0 💬 1 📌 0Coenzyme Q10 (CoQ10), whose concentration depends on both endogenous biosynthesis and dietary intake, is a lipid-soluble molecule present in all cell membranes and especially in mitochondria, where it plays a major role in electron transport.
08.09.2025 09:17 — 👍 0 🔁 0 💬 1 📌 0
📢 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...
