Alessandro Vaisfeld

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening

Marika Pane, Maria Alice Donati, Costanza Cutrona et al. · European Journal of Pediatrics · 2022 · 37 citations · Full text

Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis

Emanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori et al. · Journal of Medical Genetics · 2022 · 36 citations

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates

Marta Viggiano, Fabiola Ceroni, Paola Visconti et al. · npj Genomic Medicine · 2024 · 22 citations · Full text

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement

Alessandro Vaisfeld, Giorgia Bruno, Martina Petracca et al. · Genes · 2021 · 14 citations · Full text

A novel truncating variant within exon 7 of <i>KAT6B</i> associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of <i>KAT6B</i>‐related disorders

Giuseppe Marangi, Marilena Carmela Di Giacomo, Serena Lattante et al. · American Journal of Medical Genetics Part A · 2017 · 12 citations