European Journal of Human Genetics

The July issue of EJHG explores how chromosomal inversions, digenic inheritance, and novel gene discoveries shape our understanding of rare diseases and genomic diagnostics @eshgsociety Now online! Follow the link below to explore the latest findings ⬇️⬇️ nature.com/ejhg/volumes/3…

Seven new cases of mitochondrial membrane protein-associated neurodegeneration highlight an age-dependent presentation: Children develop ataxia and optic atrophy, while adults present with Parkinsonism and cognitive decline. nature.com/articles/s4143…

Cryptic inversions in trans with pathogenic variants may be hidden drivers of recessive disease. A rare inversion+splice variant caused familial hemophagocytic lymphohistiocytosis (HLH) in a proband, uncovering a missed mechanism in monogenic disorders. nature.com/articles/s4143…

Our latest publication @ejhg_journal on the #genetic architecture of #bicuspid aortic valve (#BAV): Only ~2% of sporadic #BAV patients carry predicted deleterious rare variants in monogenic #BAV genes, suggesting that most #BAV cases are polygenic. bit.ly/4nV9iwB

The second reported case of PAICS deficiency due to bi-allelic PAICS variants expands the clinical spectrum from recurrent pregnancy loss and fatal neonatal presentation to later-onset neurodevelopmental disorders. nature.com/articles/s4143…

Beyond cataracts: GJA8 variants play a role in structural eye anomalies, including microphthalmia & sclerocornea. #Genetics #Ophthalmology #GJA8 #RareDiseases nature.com/articles/s4143…

New in @ejhg_journal 📢 Comprehensive phenotypic and genotypic characterization of CNOT3-related neurodevelopmental disorders #NDDs: 🧬 51 patients from 42 families 🔍 28 novel variants 📍 Missense variants clustered in key functional domains nature.com/articles/s4143…

Heterozygous CELF4 variants cause a syndrome with developmental delay, epilepsy, and early-onset obesity, highlighting its key role in neurodevelopment. nature.com/articles/s4143…

Interesting paper in @ejhg_journal about the different tools to detect digenism, when a disease or phenotype is caused by the combined impact of variants in 2 different genes. nature.com/articles/s4143… & link to DiGePred (tool from @MeilerLab): servers.meilerlab.org/index.php/serv…

The clinical spectrum of XRCC4-related microcephalic primordial dwarfism (MPD) is expanded with the description of new features in seven patients. nature.com/articles/s4143…

Whole-exome sequencing can identify pathogenic variants in nearly 10% of individuals with multiple primary tumours. nature.com/articles/s4143…

Challenges in interpreting SMCHD1 variant pathogenicity and the complex interplay between genetic and epigenetic factors in FSHD2 nature.com/articles/s4143…

EMD variant as a cause of isolated X-linked dilated cardiomyopathy without muscular dystrophy. nature.com/articles/s4143…

Singleton rapid long-read genome sequencing (rLR-GS) in critically ill children with suspected genetic conditions achieved a 61% diagnostic yield, enabling reclassification of variants and leading to meaningful changes in clinical management. nature.com/articles/s4143…

Rare variants in established Mendelian syndromic and non-syndromic hearing loss genes play a significant role in the aetiology of ARHL. nature.com/articles/s4143…

A novel genetic cause of Cranioectodermal Dysplasia (CED) in five new cases @Abdulla97690428, @KaplanOLab This study identifies CILK1, a non-core-IFT protein-encoding gene, as the first of its kind linked to CED. nature.com/articles/s4143…

A novel syndromic disorder caused by biallelic loss-of-function variants in TEDC1, characterized by severe growth and developmental abnormalities, craniofacial and endocrine defects, and ciliary dysfunction. nature.com/articles/s4143…