M. Iacomino

发表论文 97 篇 · 总被引 2887 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)
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2023 · Journal of Clinical Investigation · 被引 33)
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder (2023 · Human Genetics · 被引 18)
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing (2023 · Epilepsia · 被引 12)
Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review (2023 · Epilepsia Open · 被引 11)