Most Cited Papers In Last Two Years

The underdiagnosed kidney burden of Fabry disease in females

A novel SNP-based approach for non-invasive prenatal paternity testing using multiplex PCR targeted capture sequencing

PNPLA3 as a driver of steatotic liver disease: navigating from pathobiology to the clinics via epidemiology

The landscape of current and future therapeutic opportunities for Fabry disease

The polygenic risk score in the breast cancer treatment

Risk factors influencing chronic inflammation in neoplastic transition to prostate cancer

Fabry nephropathy: focus on podocyte damage and therapeutic target

In memory of Nathan A. Berger, MD

The diagnostic odyssey, clinical burden, and natural history of Barth syndrome: an analysis of patient registry data

Commentary on “transcription regulation by long non-coding RNAs: mechanisms and disease relevance”

Unraveling the genetic tapestry of neurodevelopmental disorders: a new horizon

The reactive stroma response regulates the immune landscape in prostate cancer

Duchenne muscular dystrophy: diagnosis and perspective of treatment

The potential therapeutic applications of long non-coding RNAs

Reduced protein kinase C delta in a high molecular weight complex in mitochondria and elevated creatine uptake into Barth syndrome B lymphoblasts

Challenges in determining the malignant potential of atypical neurofibromas (aNF) using histopathologic features and the potential need for CDKN2A/2B testing: a case report

Genetics in the diagnosis and treatment of cardiovascular diseases

Silent players, loud impact: unveiling the therapeutic potentials of LncRNAs