Marcello Scala

机构：Hospital for Sick Children, Istituto Giannina Gaslini, Istituti di Ricovero e Cura a Carattere Scientifico, University of Genoa

发表论文 218 篇 · 总被引 4122 次 · h-index 31

代表论文

• Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes (2025 · Neurology Genetics · 被引 5)
• An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism (2026 · Nature · 被引 3)
• Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain (2026 · Epilepsia Open · 被引 1)
• Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA -Related Disorder/ Mitochondrial Trifunctional Protein Defect (2025 · Journal of Child Neurology · 被引 1)
• From Genes to Circuits: Modeling Neurodevelopmental Disorders (2026 · Preprints.org)
• Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features (2026 · The American Journal of Human Genetics)