📢 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...

📢 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...

Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia - European Journal of Human Genetics European Journal of Human Genetics - Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia

📢 A new study confirms the “second-hit” model in Hereditary Haemorrhagic Telangiectasia ( #HHT): Multiple lesion-specific ACVRL1 mutations were found in one patient, supporting the somatic mutation-driven formation of telangiectasias and AVMs 🧬 #VascularBiology #EJHG

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

#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...

📢 WES and telomere analyses in idiopathic pulmonary fibrosis #IPF patients uncovered pathogenic RTEL1 and NAF1 variants through a robust, clinically useful tiered virtual gene panel workflow. 🧬

Read more in the latest 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...

Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants - European Journal of Human Genetics European Journal of Human Genetics - Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants

📢 New in #EJHG: Expanding the molecular spectrum of aggrecanopathies: Exploring 24 patients with ACAN significant variants 🧬

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

📢 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...

Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance - European Journal of Human Genetics European Journal of Human Genetics - Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance

📢 Reassessment of #VUS in #tumor suppressor genes using new #ClinGen PP1/PP4 guidance can improve variant interpretation accuracy. 🧬 #EJHG #Genetics

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

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy - European Journal of Human Genetics European Journal of Human Genetics - Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy

📢 Rapid #WES in children with severe #epilepsy achieves a high diagnostic yield and enables gene-targeted therapies. 🧬
#Genetics #PrecisionMedicine #EJHG

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

Neurobehavioral profile of individuals with pathogenic variants in CHD3 - European Journal of Human Genetics European Journal of Human Genetics - Neurobehavioral profile of individuals with pathogenic variants in CHD3

📢 Individuals living with a #CHD3 mutation have better social skills than previously thought. 🧬
#Genetics #RareDisease #EJHG

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

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome - European Journal of Human Genetics European Journal of Human Genetics - Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome

📢 Eleven new patients with #2q32 deletions, affecting #COL3A1 and #COL5A2 present with Ehlers Danlos Syndrome features. 🧬
#EDS #RareDisease #Genetics #EJHG ⬇️

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

Machine learning predicts distinct biotypes of amyotrophic lateral sclerosis - European Journal of Human Genetics European Journal of Human Genetics - Machine learning predicts distinct biotypes of amyotrophic lateral sclerosis

📢 A supervised machine learning model predicts #ALS subtypes with approximately 80% accuracy based on patients' demographics and clinical data. 🧬
#EJHG #Neurogenetics ⬇️

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

📢 When exome sequencing isn’t enough, DNA methylation
#(DNAm) signatures can be useful. They can help classify VUS, confirm pathogenic variants, and provide diagnoses. 🧬#Genetics #Epigenetics #RareDisease #EJHG ⬇️

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

Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts - European Journal of Human Genetics European Journal of Human Genetics - Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts

📢 Homozygous MED29 variants cause cerebellar/pontine hypoplasia, microcephaly, GDD, and seizures. 🧠
Functional zebrafish & mouse studies support MED29 as a novel #PCH (pontocerebellar hypoplasia) risk gene. 🧬
#Genetics #Neurogenetics #EJHG

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

Client Challenge

📢 WES uncovers novel & known pathogenic variants in SPEN, POMT1, MMP2, ARL13B, and SPG11, expanding the genetic spectrum of #neuromuscular disorders and proving its value as a first-line diagnostic tool in LMICs. 🧬
#EJHG #Genetics #NMD #WES

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

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia - European Journal of Human Genetics European Journal of Human Genetics - A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia

📢 Cranioectodermal Dysplasia (skeletal, ectodermal, renal & liver defects) is now linked to a non-IFT gene, CILK1. 🧬
#Genetics #CED #Ciliopathy #EJHG

➡️ www.nature.com/articles/s41...

📢 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...

Predisposition to prostate cancer and clinical implications in a real-life cohort - European Journal of Human Genetics European Journal of Human Genetics - Predisposition to prostate cancer and clinical implications in a real-life cohort

📢 ~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...

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions - European Journal of Human Genetics European Journal of Human Genetics - Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

📢 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...

The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa - European Journal of Human Genetics European Journal of Human Genetics - The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa

📢 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...

An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2 - European Journal of Human Genetics European Journal of Human Genetics - An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2

📢 #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...

The role of untranslated region variants in Mendelian disease: a review - European Journal of Human Genetics European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review

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...

🏆 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 ⬇️