Gianpiero L. Cavalleri

发表论文 300 篇 · 总被引 18445 次 · h-index 60

代表论文

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes (2024 · Nature Neuroscience · 被引 64)
Genome-wide association meta-analyses of drug-resistant epilepsy (2025 · EBioMedicine · 被引 14)
Novel risk loci in LGI1-antibody encephalitis: genome-wide association study discovery and validation cohorts (2024 · Brain · 被引 14)
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis (2024 · Kidney International Reports · 被引 13)
Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis (2024 · Epilepsia · 被引 13)
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses (2024 · npj Genomic Medicine · 被引 9)