| 2023 |
Modeling of Hardy-Weinberg Equilibrium Using Dynamic Random Networks in an ABM Framework |
Contributo in atti di convegno pubblicato in volume |
Vai |
| 2022 |
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene |
Articolo in rivista |
Vai |
| 2021 |
Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities |
Review essay (rassegna critica) |
Vai |
| 2021 |
Boolean Networks: A Primer |
Capitolo o Saggio |
Vai |
| 2021 |
Archaeogenetics and landscape dynamics in sicily during the holocene: A review |
Articolo in rivista |
Vai |
| 2020 |
Are mutations in the dhrs9 gene causally linked to epilepsy? A case report |
Articolo in rivista |
Vai |
| 2020 |
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy |
Articolo in rivista |
Vai |
| 2020 |
Letter to the Editor Regarding the Article Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy |
Lettera |
Vai |
| 2017 |
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform |
Articolo in rivista |
Vai |
| 2016 |
Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis |
Articolo in rivista |
Vai |
| 2016 |
A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease. |
Articolo in rivista |
Vai |
| 2016 |
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily. |
Articolo in rivista |
Vai |
| 2015 |
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape. |
Articolo in rivista |
Vai |
| 2014 |
Ancient human genomes suggest three ancestral
populations for present-day Europeans |
Articolo in rivista |
Vai |
| 2014 |
Copy Number Variants and microRNAs in Autism Spectrum Disorders: a whole-genome
analysis |
Proceedings |
Vai |
| 2014 |
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation |
Articolo in rivista |
Vai |
| 2014 |
Carrier screening for spinal muscular atrophy in Italian population |
Articolo in rivista |
Vai |
| 2013 |
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome |
Articolo in rivista |
Vai |
| 2013 |
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients |
Articolo in rivista |
Vai |
| 2013 |
Percolation model of axon guidance |
Proceedings |
Vai |
| 2012 |
Analisi MLPA del gene CREB-binding protein (CREBBP) in un paziente con la sindrome di Rubinstein Taybi |
Proceedings |
Vai |
| 2011 |
Epilessia e disturbi dello spettro autistico: c'è un rischio genetico condiviso ? |
Proceedings |
Vai |
| 2011 |
Una nuova applicazione della Comparative Multiplex Dosage Analysis (CMDA) |
Proceedings |
Vai |
| 2010 |
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding |
Articolo in rivista |
Vai |
| 2010 |
Exon deletions of the PAH gene in Italian hyperphenylalaninemics |
Articolo in rivista |
Vai |
| 2010 |
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome |
Articolo in rivista |
Vai |
| 2009 |
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe |
Articolo in rivista |
Vai |
| 2009 |
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome |
Articolo in rivista |
Vai |
| 2009 |
Il neurone autistico: analisi funzionale in silico dei geni coinvolti nelle Copy Number Variants |
Proceedings |
Vai |
| 2009 |
Analisi di delezioni esoniche del gene PAH in pazienti affetti da iperfenilalaninemia |
Proceedings |
Vai |
| 2008 |
Autism Spectrum Disorders: From Candidate Genes to Candidate Ontology Terms |
Capitolo o Saggio |
Vai |
| 2008 |
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders |
Articolo in rivista |
Vai |
| 2008 |
The Arabs in Europe: Estimating medieval North Africa male legacy into Southern Europe |
Proceedings |
Vai |
| 2007 |
Dall’analisi del genoma al vocabolario biologico dell’autismo |
Proceedings |
Vai |
| 2007 |
Timing of a back-migration into Africa |
Articolo in rivista |
Vai |
| 2007 |
Neurobeachin (NBEA) is downregulated in blood cells from a patient with autism spectrum disorders (ASD) |
Proceedings |
Vai |
| 2007 |
ATTUALITÀ E PROSPETTIVE DELLA RICERCA GENOMICA SULL’AUTISMO |
Proceedings |
Vai |
| 2007 |
Analisi MLPA della regione 15q11-q14 in pazienti affetti da Idic15 |
Proceedings |
Vai |
| 2006 |
Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation |
Articolo in rivista |
Vai |
| 2006 |
Analisi MLPA di delezioni/duplicazioni nel gene PAH in pazienti italiani con iperfenilalaninemia |
Proceedings |
Vai |
| 2006 |
Nuovi approcci diagnostici per le malattie rare: la fenilchetonuria quale esempio di correlazione genotipo-fenotipo |
Proceedings |
Vai |
| 2006 |
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective |
Articolo in rivista |
Vai |
| 2006 |
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation |
Articolo in rivista |
Vai |
| 2006 |
ARCHEOGENETICA DELLA POPOLAZIONE SICILIANA: CONTESTI E PROSPETTIVE |
Proceedings |
Vai |
| 2006 |
Y-chromosomal STR haplotypes in Sicily |
Articolo in rivista |
Vai |
| 2005 |
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families |
Articolo in rivista |
Vai |
| 2005 |
ABSENCE OF MUTATIONS R451C AND D396TER (1186 INST) IN THE NEUROLIGINS NOS. 3 AND 4,GENES, RESPECTIVELY, IN 140 ITALIAN PATIENTS WITH AUTISM SPECTRUM DISORDERS. |
Proceedings |
Vai |
| 2005 |
Screening of subtelomeric rearrangements in autism spectrum disorder. Identification of a partial trisomy of 13q in a patient |
Proceedings |
Vai |
| 2005 |
A.Y-chromosomal STR haplotypes in Sicily |
Articolo in rivista |
Vai |
| 2005 |
mtDNA analysis of the human remains buried in the sarcophagus of Federico II |
Articolo in rivista |
Vai |
| 2004 |
Analisi molecolare di 3 geni (NLGN3, NLGN4, GRPR) localizzati sul cromosoma X in una popolazione autistica siciliana. |
Proceedings |
Vai |
| 2004 |
Molecular analyses of NLGN3, NLGN4, GRPR genes in a Sicilian autistic population |
Proceedings |
Vai |
| 2004 |
mtDNA markers for Celtic and Germanic Language Areas in the British Isles |
Capitolo o Saggio |
Vai |
| 2004 |
Analisi molecolare del gene GRPR in una popolazione autistica siciliana |
Proceedings |
Vai |
| 2003 |
Analisi delle mutazioni del gene Cx26 (GJB2) in famiglie siciliane con sordità neurosensoriale non sindromica |
Proceedings |
Vai |
| 1999 |
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L) |
Lettera |
Vai |
