Browsing by Author "Casals López, Ferran"

Sort by: Order: Results:

  • A forensic population database in El Salvador: 58 STRs and 94 SNPs
    Casals López, Ferran; Rasal Soteras, Raquel; Anglada Busquets, Roger; Tormo, Marc; Bonet, Núria; Rivas, Nury; Vásquez, Patricia; Calafell i Majó, Francesc (Elsevier, 2021)
    We have genotyped the 58 STRs (27 autosomal, 24 Y-STRs and 7 X-STRs) and 94 autosomal SNPs in Illumina ForenSeq™ Primer Mix A in a sample of 248 men and 143 women from El Salvador, Central America. Regional division (Centro, ...
  • A targeted association study of immunity genes and networks suggests novel associations with placental malaria infection
    Sikora, Martin, 1976-; Laayouni, Hafid, 1968-; Menéndez, Clara; Mayor, Alfredo; Bardaji, Azucena; Sigauque, Betuel; Netea, Mihai G; Casals López, Ferran; Bertranpetit, Jaume, 1952- (Public Library of Science (PLoS), 2011)
    A large proportion of the death toll associated with malaria is a consequence of malaria infection during pregnancy, causing up to 200,000 infant deaths annually. We previously published the first extensive genetic association ...
  • A variant in the gene FUT9 is associated with susceptibility to placental malaria infection
    Sikora, Martin, 1976-; Ferrer Admetlla, Anna; Laayouni, Hafid, 1968-; Menéndez, Clara; Mayor, Alfredo; Bardaji, Azucena; Sigauque, Betuel; Mandomando, Inacio; Alonso, Pedro L.; Bertranpetit, Jaume, 1952-; Casals López, Ferran (Oxford University Press, 2009)
    Malaria in pregnancy forms a substantial part of the worldwide burden of malaria, with an estimated annual death toll of up to 200,000 infants, as well as increased maternal morbidity and mortality. Studies of genetic ...
  • Assessing the digenic model in rare disorders using population sequencing data
    Moreno-Ruiz, Nerea; Genomics England Research Consortium; Lao Grueso, Oscar, 1976-; Aróstegui Gorospe, Juan Ignacio; Laayouni, Hafid, 1968-; Casals López, Ferran (Nature Research, 2022)
    An important fraction of patients with rare disorders remains with no clear genetic diagnostic, even after whole-exome or whole-genome sequencing, posing a difficulty in giving adequate treatment and genetic counseling. ...
  • Assessment of the gene mosaicism burden in blood and its implications for immune disorders
    Solís Moruno, Manuel, 1993-; Mensa Vilaró, Anna; Batlle Masó, Laura, 1993-; Lobón, Irene; Bonet, Núria; Marquès i Bonet, Tomàs, 1975-; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Nature Research, 2021)
    There are increasing evidences showing the contribution of somatic genetic variants to non-cancer diseases. However, their detection using massive parallel sequencing methods still has important limitations. In addition, ...
  • Characterization of novel pathogenic variants leading to caspase-8 cleavage-resistant RIPK1-induced autoinflammatory syndrome
    Tapiz I Reula, Alfonso José; Cochino, Alexis-Virgil; Martins, Andreia L.; Angosto-Bazarra, Diego; Ortiz de Landazuri, Iñaki; Mensa Vilaró, Anna; Cabral, Marta; Baroja-Mazo, Alberto; Baños, María C.; Lobato-Salinas, Zulema; Fabregat, Virginia; Plaza, Susana; Yagüe, Jordi L.; Casals López, Ferran; Oliva Miguel, Baldomero; Figueiredo, Antonio E.; Pelegrín, Pablo; Aróstegui Gorospe, Juan Ignacio (SpringerOpen, 2022)
    Pathogenic RIPK1 variants have been described as the cause of two different inborn errors of immunity. Biallelic loss-of-function variants cause the recessively inherited RIPK1 deficiency, while monoallelic variants impairing ...
  • Chimpanzee genomic diversity reveals ancient admixture with bonobos
    de Manuel, Marc; Kuhlwilm, Martin; Sousa, Victor C.; Prado Martínez, Javier, 1987-; Hernández Rodríguez, Jéssica, 1983-; Dupanloup, Isabelle; Lao Grueso, Oscar, 1976-; Heredia Genestar, José María, 1985-; Kuderna, Lukas F.K.; Casals López, Ferran; Angedakin, Samuel; Arandjelovic, Mimi; Boesch, Christophe; Kühl, Hjalmar S.; Vigilant, Linda; Navarro i Cuartiellas, Arcadi, 1969-; Excoffier, Laurent; Marquès i Bonet, Tomàs, 1975- (American Association for the Advancement of Science (AAAS), 2016)
    Our closest living relatives, chimpanzees and bonobos, have a complex demographic history. We analyzed the high-coverage whole genomes of 75 wild-born chimpanzees and bonobos from 10 countries in Africa. We found that ...
  • Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD
    Bosch Fusté, Elena; Laayouni, Hafid, 1968-; Morcillo Suárez, Carlos, 1969-; Casals López, Ferran; Moreno Estrada, Andrés; Ferrer Admetlla, Anna; Gardner, Michelle; Rosa, Araceli; Comas, David, 1969-; Graffelman, Jan; Calafell i Majó, Francesc; Bertranpetit, Jaume, 1952- (BioMed Central, 2009)
    Background: It is well known that the pattern of linkage disequilibrium varies between human populations, with remarkable geographical stratification. Indirect association studies routinely exploit linkage disequilibrium ...
  • Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients
    Spataro, Nino, 1984-; Roca-Umbert Würth, Ana; Cervera-Carles, Laura; Vallès, Mònica; Anglada Busquets, Roger; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Casals López, Ferran; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Wiley, 2017)
    Background: The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. ...
  • Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond
    Valles Ibáñez, Guillem de, 1986-; Hernández Rodríguez, Jéssica, 1983-; Laayouni, Hafid, 1968-; Cuscó Martí, Ivon, 1973-; Codina i Solà, Marta, 1988-; Batlle Masó, Laura, 1993-; Solís Moruno, Manuel, 1993-; Marquès i Bonet, Tomàs, 1975-; Bosch Fusté, Elena; Casals López, Ferran (Frontiers, 2018)
    Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on ...
  • Evolutionary analysis of genes of two pathways involved in placental malaria infection
    Sikora, Martin, 1976-; Ferrer Admetlla, Anna; Mayor, Alfredo; Bertranpetit, Jaume, 1952-; Casals López, Ferran (Springer, 2008)
    Placental malaria is a special form of malaria that causes up to 200,000 maternal and infant deaths every year. Previous studies show that two receptor molecules, hyaluronic acid and chondroitin sulphate A, are mediating ...
  • Evolutionary analysis of the genome load of loss-of-function variants and their contribution to immunodeficiencies
    Valles Ibáñez, Guillem de, 1986- (Universitat Pompeu Fabra, 2016-11-16)
    Human genomes have been found to harbor an unexpected number of ~100 loss-of-function (LoF) variants, with ~20 of them in an homozygous state, in most cases without a visible effect despite its potential truncation of ...
  • Evolutionary genetics of malaria: genetic susceptibility and natural selection
    Sikora, Martin, 1976- (Universitat Pompeu Fabra, 2010-06-04)
    Una de les forces selectives més fortes que han afectat a les poblacions humanes en la història més recent és el paràsit de la malària: Plasmodium falciparum, que és la causa de varis exemples d'adaptació induïda per ...
  • FHLdb: a comprehensive database on the molecular basis of familial hemophagocytic lymphohistiocytosis
    Viñas Giménez, Laura; Padilla, Natàlia; Batlle Masó, Laura, 1993-; Casals López, Ferran; Rivière, Jacques G.; Martínez-Gallo, Mónica; Cruz, Xavier de la; Colobran, Roger (Frontiers, 2020)
    Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay classification of the genetic variants found in samples ...
  • First description of late-onset autoinflammatory disease due to somatic NLRC4 mosaicism
    Ionescu, Daniela; Peñín Franch, Alejandro; Mensa Vilaró, Anna; Castillo, Paola; Hurtado Navarro, Laura; Molina-López, Cristina; Romero-Chala, Silvia; Plaza, Susana; Fabregat, Virginia; Buján, Segundo; Marques, Joana; Casals López, Ferran; Yagüe, Jordi L.; Oliva Miguel, Baldomero; Fernández-Pereira, Luis Miguel; Pelegrín, Pablo; Aróstegui Gorospe, Juan Ignacio (Wiley, 2022)
    Objective: Autoinflammatory diseases are inherited disorders of innate immunity that usually start during childhood. However, several recent reports have described an increasing number of patients with autoinflammatory ...
  • Flow sorting enrichment and nanopore sequencing of chromosome 1 from a Chinese individual
    Kuderna, Lukas F.K.; Solís Moruno, Manuel, 1993-; Batlle Masó, Laura, 1993-; Julià, Eva; Lizano González, Esther, 1974-; Anglada Busquets, Roger; Ramírez Bautista, Eva; Bote, Alex; Tormo, Marc; Marquès i Bonet, Tomàs, 1975-; Fornas Carreño, Oscar; Casals López, Ferran (Frontiers Media, 2020)
    Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly by isolating chromosomes from the context of the genome. We have recently developed a ...
  • Further confirmation for unknown archaic ancestry in Andaman and South Asia
    Mondal, Mayukh, 1989-; Casals López, Ferran; Majumder, Partha P.; Bertranpetit, Jaume, 1952- (Cold Spring Harbor Laboratory Press (CSHL Press), 2016)
    In a recent paper, we have derived three main conclusions: i) that all Asian and Pacific populations share a single origin and expansion out of Africa, contradicting an earlier proposal of two independent waves; ii) that ...
  • Genetic adaptation of the antibacterial human innate immunity network
    Casals López, Ferran; Sikora, Martin, 1976-; Laayouni, Hafid, 1968-; Montanucci, Ludovica, 1978-; Muntasell i Castellví, Aura, 1972-; Lazarus, Ross; Calafell i Majó, Francesc; Awadalla, Philip; Netea, Mihai G; Bertranpetit, Jaume, 1952- (BioMed Central, 2011)
    Background: Pathogens have represented an important selective force during the adaptation of modern human populations to changing social and other environmental conditions. The evolution of the immune system has therefore ...
  • Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing
    Batlle Masó, Laura, 1993-; Mensa Vilaró, Anna; Solís Moruno, Manuel, 1993-; Marquès i Bonet, Tomàs, 1975-; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Elsevier, 2020)
    Autoinflammatory diseases comprise a wide range of syndromes caused by dysregulation of the innate immune response. They are difficult to diagnose due to their phenotypic heterogeneity and variable expressivity. Thus, the ...
  • Genetic load of loss-of-function polymorphic variants in great apes
    de Valles-Ibáñez, Guillem; Hernández Rodríguez, Jéssica, 1983-; Prado Martínez, Javier, 1987-; Luisi, Pierre, 1985-; Marquès i Bonet, Tomàs, 1975-; Casals López, Ferran (Oxford University Press, 2016)
    Loss of function (LoF) genetic variants are predicted to disrupt gene function, and are therefore expected to substantially reduce individual's viability. Knowing the genetic burden of LoF variants in endangered species ...