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VALENTINO ROMANO

Publications

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