Publications by authors named "Ferran Casals"

59Publications

The first GHEP-ISFG collaborative exercise on forensic applications of massively parallel sequencing.

Forensic Sci Int Genet 2020 Nov 18;49:102391. Epub 2020 Sep 18.

Working Commission on "Massively Parallel Sequencing (MPS): Forensic Applications" of the GHEP-ISFG (The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics), Spain; Biology Service, National Institute of Toxicology and Forensic Sciences, Department of Madrid, Spain.

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November 2020

Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.

Eur J Med Genet 2020 May 25;63(5):103920. Epub 2020 Mar 25.

Genomics Core Facility, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, 08003, Barcelona, Spain. Electronic address:

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May 2020

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Front Immunol 2020 31;11:107. Epub 2020 Jan 31.

Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Spain.

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January 2020

Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual.

Front Genet 2019 9;10:1315. Epub 2020 Jan 9.

Genomics Core Facility, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona (PRBB), Barcelona, Spain.

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January 2020

Reply to 'No evidence for unknown archaic ancestry in South Asia'.

Nat Genet 2018 12;50(12):1637-1639

Institut de Biologia Evolutiva (UPF-CSIC), Universitat Pompeu Fabra, Barcelona, Spain.

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December 2018

Genomes reveal marked differences in the adaptive evolution between orangutan species.

Genome Biol 2018 11 15;19(1):193. Epub 2018 Nov 15.

Evolutionary Genetics Group, Department of Anthropology, University of Zurich, Winterthurerstrasse 190, 8057, Zürich, Switzerland.

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November 2018

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

J Allergy Clin Immunol 2018 12 4;142(6):1932-1946. Epub 2018 May 4.

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:

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December 2018

Length and repeat-sequence variation in 58 STRs and 94 SNPs in two Spanish populations.

Forensic Sci Int Genet 2017 09 16;30:66-70. Epub 2017 Jun 16.

Institut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Catalonia, Spain. Electronic address:

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September 2017

Y-chromosomal sequences of diverse Indian populations and the ancestry of the Andamanese.

Hum Genet 2017 05 25;136(5):499-510. Epub 2017 Apr 25.

Institute of Evolutionary Biology (CSIC-UPF), Universitat Pompeu Fabra, Doctor Aiguader 88 (PRBB), 08003, Barcelona, Catalonia, Spain.

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May 2017

Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients.

Mov Disord 2017 01 7;32(1):165-169. Epub 2016 Nov 7.

Institute of Evolutionary Biology (CSIC-UPF), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.

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January 2017

An assessment of a massively parallel sequencing approach for the identification of individuals from mass graves of the Spanish Civil War (1936-1939).

Electrophoresis 2016 10 5;37(21):2841-2847. Epub 2016 Sep 5.

Genomics Core Facility, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain.

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October 2016

Natural Selection in the Great Apes.

Mol Biol Evol 2016 12 30;33(12):3268-3283. Epub 2016 Oct 30.

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.

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December 2016

Chimpanzee genomic diversity reveals ancient admixture with bonobos.

Science 2016 10 27;354(6311):477-481. Epub 2016 Oct 27.

Institut de Biologia Evolutiva (Consejo Superior de Investigaciones Científicas-Universitat Pompeu Fabra), Barcelona Biomedical Research Park, Doctor Aiguader 88, Barcelona, Catalonia 08003, Spain. National Centre for Genomic Analysis-Centre for Genomic Regulation, Barcelona Institute of Science and Technology, 08028 Barcelona, Spain. Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Catalonia 08010, Spain.

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October 2016

Genetic Load of Loss-of-Function Polymorphic Variants in Great Apes.

Genome Biol Evol 2016 Mar 26;8(3):871-7. Epub 2016 Mar 26.

Servei de Genòmica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain

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March 2016

Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease.

Hum Mol Genet 2015 Apr 11;24(7):2023-34. Epub 2014 Dec 11.

Institute of Evolutionary Biology (CSIC-UPF), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain,

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April 2015

Population and genomic lessons from genetic analysis of two Indian populations.

Hum Genet 2014 Oct 1;133(10):1273-87. Epub 2014 Jul 1.

Department of Genetics, University of Delhi South Campus, New Delhi, 110 021, India.

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October 2014

Selective constraint, background selection, and mutation accumulation variability within and between human populations.

BMC Genomics 2013 Jul 23;14:495. Epub 2013 Jul 23.

Sainte Justine Research Centre, Department of Pediatrics, University of Montreal, Montreal, Canada.

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July 2013

Genetics. Human genetic variation, shared and private.

Science 2012 Jul;337(6090):39-40

IBE-Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra, Barcelona, Catalonia, Spain.

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July 2012

Next-generation sequencing approaches for genetic mapping of complex diseases.

J Neuroimmunol 2012 Jul 27;248(1-2):10-22. Epub 2012 Jan 27.

Centre de Recherche du Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.

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July 2012

Genetic adaptation of the antibacterial human innate immunity network.

BMC Evol Biol 2011 Jul 11;11:202. Epub 2011 Jul 11.

Institute of Evolutionary Biology (UPF-CSIC), CEXS - UPF - PRBB, Barcelona, Catalonia, Spain.

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July 2011

Recent human evolution has shaped geographical differences in susceptibility to disease.

BMC Genomics 2011 Jan 24;12:55. Epub 2011 Jan 24.

Institute of Evolutionary Biology (UPF-CSIC), PRBB, Doctor Aiguader 88, 08003, Barcelona, Catalonia, Spain.

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January 2011

Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD.

BMC Genomics 2009 Jul 28;10:338. Epub 2009 Jul 28.

Institut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.

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July 2009

Interrogating 11 fast-evolving genes for signatures of recent positive selection in worldwide human populations.

Mol Biol Evol 2009 Oct 3;26(10):2285-97. Epub 2009 Jul 3.

Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (UPF-CSIC), Universitat Pompeu Fabra, Barcelona, Spain.

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October 2009

A natural history of FUT2 polymorphism in humans.

Mol Biol Evol 2009 Sep 1;26(9):1993-2003. Epub 2009 Jun 1.

Institut de Biologia Evolutiva (CSIC-UPF), CEXS-UPF-PRBB, Barcelona, Catalonia, Spain.

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September 2009

Balancing selection is the main force shaping the evolution of innate immunity genes.

J Immunol 2008 Jul;181(2):1315-22

Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Unitat de Biologia Evolutiva, Barcelona, Catalonia, Spain.

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July 2008

Is there selection for the pace of successive inactivation of the arpAT gene in primates?

J Mol Evol 2008 Jul 20;67(1):23-8. Epub 2008 Jun 20.

Evolutionary Biology Unit, Department of Experimental Sciences and Health, Universitat Pompeu Fabra, 08003 Barcelona, Catalonia, Spain.

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July 2008

Evolutionary analysis of genes of two pathways involved in placental malaria infection.

Hum Genet 2008 May 4;123(4):343-57. Epub 2008 Mar 4.

Evolutionary Biology Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona Biomedical Research Park, Carrer Dr Aiguader 88, 08003, Barcelona, Catalonia, Spain.

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May 2008

Signatures of selection in the human olfactory receptor OR5I1 gene.

Mol Biol Evol 2008 Jan 2;25(1):144-54. Epub 2007 Nov 2.

Unitat de Biologia Evolutiva, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain.

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January 2008

Extreme individual marker F(ST )values do not imply population-specific selection in humans: the NRG1 example.

Hum Genet 2007 Jul 25;121(6):759-62. Epub 2007 Apr 25.

Unitat de Biologia Evolutiva, Universitat Pompeu Fabra, Doctor Aiguader 88, Barcelona, 08003, Spain.

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July 2007

Testing chromosomal phylogenies and inversion breakpoint reuse in Drosophila.

Genetics 2007 Jan 8;175(1):167-77. Epub 2006 Oct 8.

Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, 08193 Bellaterra (Barcelona), Spain.

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January 2007

Abundance and chromosomal distribution of six Drosophila buzzatii transposons: BuT1, BuT2, BuT3, BuT4, BuT5, and BuT6.

Chromosoma 2006 Oct 14;115(5):403-12. Epub 2006 Jun 14.

Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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October 2006

Molecular characterization and chromosomal distribution of Galileo, Kepler and Newton, three foldback transposable elements of the Drosophila buzzatii species complex.

Genetics 2005 Apr 3;169(4):2047-59. Epub 2005 Feb 3.

Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra (Barcelona), Spain.

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April 2005

Duplicative and conservative transpositions of larval serum protein 1 genes in the genus Drosophila.

Genetics 2004 Sep;168(1):253-64

Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, 08193 Bellaterra (Barcelona), Spain.

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September 2004

A new split of the Hox gene complex in Drosophila: relocation and evolution of the gene labial.

Mol Biol Evol 2003 Dec 29;20(12):2042-54. Epub 2003 Aug 29.

Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra (Barcelona) Spain.

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December 2003

Low occurrence of gene transposition events during the evolution of the genus Drosophila.

Evolution 2003 Jun;57(6):1325-35

Department de Genètica i de Microbiologia, Facultat de Ciències, Edifici C, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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June 2003

The foldback-like transposon Galileo is involved in the generation of two different natural chromosomal inversions of Drosophila buzzatii.

Mol Biol Evol 2003 May 2;20(5):674-85. Epub 2003 Apr 2.

Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra (Barcelona), Spain.

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May 2003