1. The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily.

    European Journal of Human Genetics 24(3):429 (2016) PMID 26173964 PMCID PMC4757772

    Greek colonisation of South Italy and Sicily (Magna Graecia) was a defining event in European cultural history, although the demographic processes and genetic impacts involved have not been systematically investigated. Here, we combine high-resolution surveys of the variability at the uni-parent...
  2. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

    Current Biology 25(21):2878 (2015)

  3. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

    Current Biology 25(19):2518 (2015) PMID 26387712 PMCID PMC4714572

    Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-...
  4. Ancient human genomes suggest three ancestral populations for present-day Europeans.
    Iosif Lazaridis, Nick Patterson, Alissa Mittnik, Gabriel Renaud, Swapan Mallick, Karola Kirsanow, Peter H Sudmant, Joshua G Schraiber, Sergi Castellano, Mark Lipson, Bonnie Berger, Christos Economou, Ruth Bollongino, Qiaomei Fu, Kirsten I Bos, Susanne Nordenfelt, Heng Li, Cesare de Filippo, Kay Prüfer, Susanna Sawyer, Cosimo Posth, Wolfgang Haak, Fredrik Hallgren, Elin Fornander, Nadin Rohland, Dominique Delsate, Michael Francken, Jean-Michel Guinet, Joachim Wahl, George Ayodo, Hamza A Babiker, Graciela Bailliet, Elena Balanovska, Oleg Balanovsky, Ramiro Barrantes, Gabriel Bedoya, Haim Ben-Ami, Judit Bene, Fouad Berrada, Claudio M Bravi, Francesca Brisighelli, George J Busby, Francesco Cali, Mikhail Churnosov, David E Cole, Daniel Corach, Larissa Damba, George van Driem, Stanislav Dryomov, Jean-Michel Dugoujon, Sardana A Fedorova, Irene Gallego Romero, Marina Gubina, Michael Hammer, Brenna M Henn, Tor Hervig, Ugur Hodoglugil, Aashish R Jha, Sena Karachanak-Yankova, Rita Khusainova, Elza Khusnutdinova, Rick Kittles, Toomas Kivisild, William Klitz, Vaidutis Kučinskas, Alena Kushniarevich, Leila Laredj, Sergey Litvinov, Theologos Loukidis, Robert W Mahley, Béla Melegh, Ene Metspalu, Julio Molina, Joanna Mountain, Klemetti Näkkäläjärvi, Desislava Nesheva, Thomas Nyambo, Ludmila Osipova, Jüri Parik, Fedor Platonov, Olga Posukh, Valentino Romano, Francisco Rothhammer, Igor Rudan, Ruslan Ruizbakiev, Hovhannes Sahakyan, Antti Sajantila, Antonio Salas, Elena B Starikovskaya, Ayele Tarekegn, Draga Toncheva, Shahlo Turdikulova, Ingrida Uktveryte, Olga Utevska, René Vasquez, Mercedes Villena, Mikhail Voevoda, Cheryl A Winkler, Levon Yepiskoposyan, Pierre Zalloua, Tatijana Zemunik, Alan Cooper, Cristian Capelli, Mark G Thomas, Andres Ruiz-Linares, Sarah A Tishkoff, Lalji Singh, Kumarasamy Thangaraj, Richard Villems, David Comas, Rem Sukernik, Mait Metspalu, Matthias Meyer, Evan Eichler, Joachim Burger, Montgomery Slatkin, Svante Pääbo, Janet Kelso, David Reich, and Johannes Krause

    Nature 513(7518):409 (2014) PMID 25230663 PMCID PMC4170574

    We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differenti...
  5. Carrier screening for spinal muscular atrophy in Italian population.

    Journal of Genetics 93(1):179 (2014) PMID 24840836

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  6. Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.

    PLoS ONE 9(3):e90947 (2014) PMID 24667286 PMCID PMC3965395

    Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational proc...
  7. Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.

    Experimental & molecular medicine 42(12):842 (2010) PMID 21072004 PMCID PMC3015158

    Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutat...
  8. Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding.

    Current Genomics 11(2):136 (2010) PMID 20885821 PMCID PMC2874223

    We have used Gene Ontology (GO) and pathway analyses to uncover the common functions associated to the genes overlapping Copy Number Variants (CNVs) in autistic patients. Our source of data were four published studies [1-4]. We first applied a two-step enrichment strategy for autism-specific gen...
  9. Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe.

    European Journal of Human Genetics 17(6):848 (2009) PMID 19156170 PMCID PMC2947089

    To investigate the male genetic legacy of the Arab rule in southern Europe during medieval times, we focused on specific Northwest African haplogroups and identified evolutionary close STR-defined haplotypes in Iberia, Sicily and the Italian peninsula. Our results point to a higher recent Northw...
  10. Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome.

    European Journal of Human Genetics 17(1):91 (2009) PMID 18685561 PMCID PMC2985948

    The presence or absence of genetic heterogeneity in Sicily has long been debated. Through the analysis of the variation of Y-chromosome lineages, using the combination of haplogroups and short tandem repeats from several areas of Sicily, we show that traces of genetic flows occurred in the islan...
  11. Timing of a back-migration into Africa.

    Science 316(5821):50 (2007) PMID 17412938

  12. Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.

    American Journal of Medical Genetics. Part B: N... 141B(6):584 (2006) PMID 16823807

    Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and d...
  13. Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.

    American Journal of Psychiatry 163(9):1622 (2006) PMID 16946189

    Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several ...
  14. Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families.

    Psychiatric Genetics 15(2):149 (2005) PMID 15900231

    We have screened 143 Sicilian (Italian) families with one autistic child to verify, by a linkage disequilibrium approach, the involvement of the 2q31.1 region in the cause of the disease in these families. Our study design includes the use of intrafamilial association to prevent a population str...
  15. mtDNA analysis of the human remains buried in the sarcophagus of Federico II

    Journal of Cultural Heritage 6(4):313 (2005)

    The sarcophagus containing the remains of Federico II, located in the Cathedral of Palermo (Sicily, Italy), was opened on 1998 to perform a multidisciplinary survey [1]. Next to the remains of Federico II and in close contact with them were laying two other skeletons belonging, according to...
  16. Cell line DNA typing in forensic genetics--the necessity of reliable standards.

    Forensic Science International 138(1-3):37 (2003) PMID 14642717

    The incorporation of reference DNA is crucial to the validation of any DNA typing protocol. This paper aims to provide a panel of reference DNAs for actual forensic profiling strategies, i.e. autosomal and gonosomal STR typing as well as mtDNA sequencing. We have characterised three human lympho...
  17. The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuria.

    Behavior Genetics 33(3):301 (2003) PMID 12837019

    Pah(enu2) mice, created by chemically induced genetic mutation, are characterized by biochemical phenotypes closely resembling untreated human phenylketonuria (PKU). However, studies conducted in adult Pah(enu2) mice have shown no indices of the severe mental retardation that characterizes untre...
  18. Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

    Human Mutation 21(4):387 (2003) PMID 12655548

    The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylalanine hydroxylase (PAH) locus and is associated with two major PAH haplotypes. R408W-2.3 exhibits a west-to-east cline of relative frequency reaching its maximum in the Balto-Slavic region, while R...
  19. Cell line DNA typing in forensic genetics—the necessity of reliable standards

    Forensic Science International 138(1):37 (2003)

    The incorporation of reference DNA is crucial to the validation of any DNA typing protocol. This paper aims to provide a panel of reference DNAs for actual forensic profiling strategies, i.e. autosomal and gonosomal STR typing as well as mtDNA sequencing. We have characterised three human l...
  20. The phenylketonuria mouse model: a meeting review.

    Molecular Genetics and Metabolism 76(4):256 (2002) PMID 12208130