P. Scudieri

发表论文 76 篇 · 总被引 2456 次 · h-index 23

代表论文

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture (2023 · Nature Genetics · 被引 189)
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes (2024 · Nature Neuroscience · 被引 40)
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023 · Human Genomics · 被引 23)
Airway surface hyperviscosity and defective mucociliary transport by IL-17/TNF-α are corrected by β-adrenergic stimulus (2022 · JCI Insight · 被引 19)
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development (2022 · Cerebellum · 被引 18)
Novel tricyclic pyrrolo-quinolines as pharmacological correctors of the mutant CFTR chloride channel (2023 · Scientific Reports · 被引 13)