🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

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…

We are calling for papers for a special issue of EJHG exploring the role of DNA in public health screening. We welcome: -Original research -Reviews -Commentaries Deadline: December 31st, 2025 Submit via: nature.com/collections/dj… European Society of Human Genetics (ESHG)

A novel genetic cause of Cranioectodermal Dysplasia (CED) in five new cases Abdullah Sezer, Oktay I. Kaplan This study identifies CILK1, a non-core-IFT protein-encoding gene, as the first of its kind linked to CED. 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…

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…

EMD variant as a cause of isolated X-linked dilated cardiomyopathy without muscular dystrophy. 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…

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

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

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…

Interesting paper in European Journal of Human Genetics 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 Jens Meiler Lab): servers.meilerlab.org/index.php/serv…

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

New in European Journal of Human Genetics 📢 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…

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

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…

Our latest publication European Journal of Human Genetics 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

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…