1. 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...
  2. 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...
  3. Carrier screening for spinal muscular atrophy in Italian population.

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

    PDF not found
  4. Carrier screening for spinal muscular atrophy in Italian population.

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

    PDF not found
  5. 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...
  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. 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...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

    Experimental & molecular medicine 42(2):81 (2010) PMID 19946181 PMCID PMC2827832

    A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient...
  13. Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

    Experimental & molecular medicine 42(2):81 (2010) PMID 19946181 PMCID PMC2827832

    A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient...
  14. 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...
  15. 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...
  16. SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.

    Journal of Genetics 88(1):93 (2009) PMID 19417550

    PDF not found
  17. SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.

    Journal of Genetics 88(1):93 (2009) PMID 19417550

    PDF not found
  18. 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...
  19. 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...
  20. SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma.

    Melanoma Research 18(4):295 (2008) PMID 18626316

    The incidence of melanoma has dramatically increased in many countries (it is 4.5 cases every 100 000 inhabitants in Sicily) and Xq27 region contains genes important in cancer like the SPANX (sperm protein associated with the nucleus in the X chromosome) gene family. These genes, made up of two ...