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Salvatore Savasta

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019 · Vincenzo Salpietro, Nancy T. Malintan, et al. · The American Journal of Human Genetics · 137
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2020 · Lucia V. Schottlaender, Rosella Abeti, et al. · The American Journal of Human Genetics · 88
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019 · Stephanie Efthymiou, Vincenzo Salpietro, et al. · Brain · 86
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020 · Caroline Neuray, Reza Maroofian, et al. · Brain · 56
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
2023 · Vincenzo Salpietro, Reza Maroofian, et al. · The American Journal of Human Genetics · 9
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Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series
2024 · Paolo Currao, Marta Balzarini, et al. · Journal of Child Neurology · 6
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Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review
2024 · Fabio Sirchia, Ivan Taietti, et al. · Genes · 2
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A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome
2025 · Maura Mingoia, Alessandra Meloni, et al. · Clinical Genetics · 1
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Rethinking Otorhinolaryngologic Care Pathways in Children with Down Syndrome: A Multidisciplinary Framework for Early Diagnosis and Management
2025 · Francesco Fabrizio Comisi, Elena Esposito, et al. · Journal of Clinical Medicine
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Author response for "A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome"
2025 · Maura Mingoia, Alessandra Meloni, et al. · Publons reviews and discussion
Works count: 10
Citation count: 385
H-index: 6
I10-index: 4
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