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Abstract Background Antenatal hydronephrosis (AHN) is a common urological abnormality identified during prenatal ultrasound examination, with heterogeneous underlying causes. This study aimed to investigate the genetic e...

Abstract Background The basic sex form in bitter gourd is monoecious, characterized by a high male: female flower sex ratio of approximately 15:1. However, gynoecious and predominantly gynoecious lines have recently been...

Abstract Background and aims Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by connective tissue fragility; however, respiratory manifestations such as pulmonary hemorrhage and spontaneou...

Abstract Background Timely diagnosis and therapeutic management of rare diseases (RDs) are greatly hampered by limited clinical information and a lack of reliable epidemiological data. RDs constitute a heterogeneous grou...

Abstract Background Non-invasive prenatal testing (NIPT) is a genetic test to screen fetal chromosomal abnormalities in pregnancy. Public reliance on short-video platforms for health information in China is increasing, y...

Abstract DNA methylation quantification in age-prediction models relies on only a few techniques with inherent limitations and biases, reducing the accuracy and reproducibility. We developed a new droplet digital PCR ass...

Abstract Objective This study aims to document the first genetically confirmed cases of WS1 in Ecuador. Design and methods A Cross-Sectional study was conducted among individuals with early-onset insulin-dependent diabet...

Abstract Mortality rates from breast cancer in young women have fallen considerably in high-income countries but continue to rise in low-income countries such as Morocco. Young women with breast cancer face unique challe...

Abstract Objectives Determine the proportion of patients with Lynch syndrome who received guideline-concordant care according to NCCN guidelines during the study period (2015–2018). Methods A retrospective cohort study...

Abstract Rare disease gene discovery is limited by small cohorts and the frequent absence of matched controls. We present the Case-Only Burden Test (COBT), a gene-based burden test for case-only designs accounting for mu...

Abstract Chronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by impaired phagocytic function due to defects in the NADPH oxidase complex. This enzymatic deficiency compromises the productio...

Abstract Background Current understanding of the fluid biomarker profile in early-onset Alzheimer’s disease (EOAD) associated with pathogenic APP variants remains limited. We characterized four EOAD pedigrees carrying ...

Abstract Background Hereditary breast and ovarian cancer (HBOC) confers a markedly increased lifetime risk of breast and ovarian cancers. As no effective surveillance method for early detection of ovarian cancer has been...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare and progressive neurodegenerative disorder, distinguished by extreme clinical heterogeneity that frequently results in diagnostic delays. Whil...

Abstract Background Iodine plays a critical role in producing thyroid hormones essential for brain development. An imbalance of iodine, whether deficiency or excess, can disrupt thyroid function. Iodine-induced hypothyro...

Abstract Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) syndrome is a recently recognized rare channelopathy caused by gain-of-function mutations in the SCN5A gene, leading to a high burden of prematu...

Abstract Background Hemolytic uremic syndrome (HUS) is classically defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI) and is most often associated with renal thromb...

Abstract Background Serum beta-human chorionic gonadotropin (β-hCG) hormone is a well-established biomarker used for pregnancy monitoring and prognosis in in vitro fertilization (IVF) cycles. After embryo transfer, a hi...

Abstract Hypohidrotic ectodermal dysplasia (HED), caused by mutations in genes such as EDAR, is a genetic disorder characterized by hypodontia, hypotrichosis, and hypohidrosis. Dental anomalies in HED patients lead to fu...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is an extremely rare, slowly progressive neurodegenerative disorder characterized by episodic neurological and psychiatric symptoms. Diagnosis is challen...

Abstract Hepatic Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma (EBV+IFDCS) is an extremely rare low-grade malignant tumor. Due to its rarity and lack of specific symptoms, laboratory markers,...

Abstract Background The prevalence and spectrum of PALB2 pathogenic/likely pathogenic variants (PV/LPVs) may vary across different regions, and these have not yet been analysed and reported in Slovenian HBOC families. Me...

Abstract Background Thalassemia is the most prevalent single-gene disorder in Sri Lanka, imposing a significant socioeconomic and healthcare burden. Early carrier detection is essential for genetic counselling and the pr...

Abstract Background As dementia cases continue to rise, effective prevention strategies are urgently needed. However, objective biomarkers that directly reflect lifestyle factors remain limited. Life’s Essential 8 (LE8...