Uncover the latest and most impactful research in Disease Genetics. Explore pioneering discoveries, insightful ideas and new methods from leading researchers in the field.
Background Inherited metabolic disorders (IMDs) are a heterogeneous group of rare diseases caused by genetic variants that disrupt key metabolic pathways. This retrospective study primarily aimed to characterize the molecular and genetic spectrum of...
Graft-versus-host disease (GvHD) remains a major cause of morbidity and non-relapse mortality after allogeneic hematopoietic cell transplantation. Building on prior evidence implicating mitochondrial DNA (mtDNA) variation in myelodysplastic...
In this study, we aimed to identify potential variants associated with monogenic autoinflammatory diseases (AIDs) in patients with Still’s disease (SD), thereby enhancing our understanding of the complex genetic mechanisms driving SD. This study...
Rare inherited renal disorders (RIRD) are genetically heterogeneous conditions that contribute substantially to morbidity and mortality, particularly among pediatric and young adult populations. Although next-generation sequencing has improved...
Background Leigh syndrome (LS) or subacute necrotizing encephalopathy is a rare inherited mitochondrial disorder with a global prevalence of 1 in 40,000 and affecting majorly infants and neonates. Symptoms usually appear before 24 months of age and...
Type 2 diabetes (T2D) is a highly heterogeneous metabolic trait, with a higher prevalence in East Asians. Despite extensive genetic studies focusing mainly on Europeans, how genetic risk for T2D is distributed across biological pathways in East...
Eating disorders and obesity are severe health conditions arising from an impaired body weight regulation. Both are strongly influenced by genetic factors. Accordingly, obesity can be broadly classified as either monogenic, caused by mutations in a...
Neurogenetic diseases are individually rare but collectively common. Recent advances in genetic diagnostics, expansion of newborn screening, and therapeutic progress make timely recognition of these disorders more crucial than ever. This review will...
Hereditary cancer awareness has entered a new phase. For decades, awareness has focused on recognizing familial risk, identifying pathogenic germline variants, and helping families access counselling, surveillance and prevention. Yet in 2026, the...
According to the Global Burden of Disease Study 2023, Parkinson’s disease (PD) affects an estimated 11.67 million people worldwide, a progressive neurodegenerative condition marked by the accumulation of Lewy bodies containing α-synuclein and the...
Background and aim Late-onset Charcot–Marie–Tooth (CMT) disease remains under-recognized and may mimic acquired neuropathies in older adults. We aimed to determine the prevalence and clinical, electrophysiological, and genetic characteristics of...
Background Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute coronary syndrome in younger women. The primary mechanism of SCAD remains unclear, but predisposing factors appear to include connective disease...
Background Up to 15% of patients worldwide experience serious postoperative complications after major surgery. We explored the genetic basis of five common postoperative complications and whether they share genetic aetiology with their...
Background and Objective Pathogenic variants in CAPN3cause calpainopathy, but the diagnostic use of population-scale sequence data remains challenging, because allele frequency, inheritance assumptions, and variant classification do not directly...
Background and objective Growing evidence suggests genetic basis in familial and other types of fibrotic interstitial lung disease (ILD). Genetics may improve diagnostic accuracy and risk stratification. The objective was to evaluate the utility of...
Pathogenic variants in the MYH9gene cause MYH9-related disorders (MYH9-RD), typically characterized by congenital macrothrombocytopenia and aggregates of mutant non-muscle myosin heavy chain IIA in neutrophils (Döhle-like bodies) and other cells....
Gestational diabetes mellitus is a metabolic disorder of pregnancy resulting from insulin resistance and β-cell dysfunction, affecting both maternal and fetal health. Genetics plays an important role in the development of GDM and the individuals...
Background Inborn errors of immunity (IEIs), historically termed primary immunodeficiencies (PID), are a broad group of rare inherited diseases caused by genetic variants that impair the development or functioning of the immune system. Although IEIs...
Background Duchenne and Becker muscular dystrophies arise from pathogenic variants in the DMD gene at Xp21.2. Their spectrum is uncharacterised in the Central-Eastern Black Sea region of Türkiye. Methods We reviewed all consecutive individuals tested...
Childhood maltreatment (CM) is a major risk factor for psychiatric disorders, yet the shared genetic etiology, potential causal effects, and mediating pathways underlying these associations remain incompletely understood. We investigated the shared...
The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research...
Journal
The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome...
Journal
Human Genetics is a leading international journal dedicated to publishing high-quality research in all areas of human genetics. The journal aims to...
