Publications by authors named "Sergi Beltran"

60Publications

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

J Neurol 2020 Jul 12. Epub 2020 Jul 12.

Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.

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http://dx.doi.org/10.1007/s00415-020-10059-3DOI Listing
July 2020

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

J Mol Diagn 2020 Sep 30;22(9):1205-1215. Epub 2020 Jun 30.

Centro Nacional de Análisis Genómico (CNAG)-Centro de Regulación Genómica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain; Universitat Pompeu Fabra, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2020.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477492PMC
September 2020

-related autosomal recessive encephalopathy in 2 Turkish children.

Neurol Genet 2020 Feb 10;6(1):e392. Epub 2020 Jan 10.

Pediatric Neurology Clinic (A.Y.), Private Office, Diyarbakir, Turkey; Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Canada; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; John Walton Muscular Dystrophy Research Centre (A.T.), Institute of Genetic Medicine, Newcastle University, UK; Dokuz Eylul University (S.H., E.S., E.Y., Y.O.), Izmir International Biomedicine and Genome Institute, Turkey; Faculty of Medicine (S.H., U.Y., A.I.P., P.E.), Department of Paediatric Neurology, Dokuz Eylul University, Izmir, Turkey; Faculty of Medicine (S.G.), Turgut Ozal Research Center, Department of Paediatric Neurology, Inonu University, Malatya, Turkey; CNAG-CRG (S.L., H.L., S.B.), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Spain; Universitat Pompeu Fabra (S.L.), Barcelona, Spain; Koc University (A.Y.), School of Medicine, Medical Student, Istanbul, Turkey; Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK; Izmir Biomedicine and Genome Center (Y.O.), Dokuz Eylul University Health Campus, Turkey; and Faculty of Medicine (Y.O.), Department of Medical Biology, Dokuz Eylul University, Izmir, Turkey.

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http://dx.doi.org/10.1212/NXG.0000000000000392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975172PMC
February 2020

A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.

Eur J Med Genet 2020 Apr 23;63(4):103854. Epub 2020 Jan 23.

Reparative Therapy of the Heart, Valld'Hebron Research Institute (VHIR), Cardiac Surgery Department, University Hospital Valld'Hebron. Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103854DOI Listing
April 2020

Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS.

J Clin Pathol 2020 Sep 24;73(9):571-577. Epub 2020 Jan 24.

Anatomic Pathology Service, Hematology Service and Translational Hematopathology Lab, Hospital Universitario Marques de Valdecilla/IDIVAL. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Santander, Cantabria, Spain

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http://dx.doi.org/10.1136/jclinpath-2019-206282DOI Listing
September 2020

The ethylene receptors CpETR1A and CpETR2B cooperate in the control of sex determination in Cucurbita pepo.

J Exp Bot 2020 01;71(1):154-167

Department of Biology and Geology, Research Centers CIAIMBITAL and CeiA3, University of Almería, Almería, Spain.

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http://dx.doi.org/10.1093/jxb/erz417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913735PMC
January 2020

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.

Hum Mutat 2019 10 23;40(10):1797-1812. Epub 2019 Jun 23.

Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.23792DOI Listing
October 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 01;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Heterozygous mutation causes familial ataxia with cognitive affective syndrome (SCA48).

Neurology 2018 11 31;91(21):e1988-e1998. Epub 2018 Oct 31.

From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (IDI), and Radiology Department (B.B.), University Hospital "Dr. Josep Trueta," Hospital de Santa Caterina, Parc Hospitalari Martí i Julià; Group of Investigation in Neurodegeneration and Neuroinflammation (D.G., B.A., F.M., L.R.-T., J.G.), Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona; Medical Sciences Department (B.A., L.R.-T.), University of Girona; Neurogenetics Laboratory, Division of Neurosciences (S.O.-C., E. Lorenzo, P.P.), Center for Applied Medical Research, University of Navarra, Pamplona; Department of Neurology and Neurosurgery (S.O.-C., H.S.N.), Hospital Universitario de Burgos (HUBU); CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (S.O.-C., E. Lorenzo, P.P.), Instituto de Salud Carlos III, Madrid; Molecular Diagnostic Centre for Hereditary Diseases (CDGM) (J.C., J.G., L.d.J., E. López, B.C., V.V.), Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona; Centro Nacional de Análisis Genómico (CNAG-CRG) (R.T., S.B.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF) (R.T., S.B.), Barcelona; National Bioinformatics Institute (R.T.), Madrid; Clinical Psychology (L.F.), Hospital de Dia de Malalties Neurodegeneratives, Hospital de Santa Caterina, Parc Hospitalari Martí i Julià, Girona; and Movement Disorders Unit, Department of Neurology (P.P.), University Hospital Mutua de Terrassa, Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000006550DOI Listing
November 2018

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.

PLoS One 2017 11;12(8):e0183081. Epub 2017 Aug 11.

Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0183081PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5553726PMC
October 2017

Growth phase-dependent control of R27 conjugation is mediated by the interplay between the plasmid-encoded regulatory circuit TrhR/TrhY-HtdA and the cAMP regulon.

Environ Microbiol 2016 12 13;18(12):5277-5287. Epub 2016 Nov 13.

Departament de Microbiologia, Universitat de Barcelona, Avda. Diagonal 643, Barcelona, 08028, Spain.

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http://dx.doi.org/10.1111/1462-2920.13579DOI Listing
December 2016

From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.

Hum Mutat 2016 12 26;37(12):1263-1271. Epub 2016 Sep 26.

CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.23114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129537PMC
December 2016

Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes.

BMC Genomics 2016 08 26;17:685. Epub 2016 Aug 26.

Centre for Research in Agricultural Genomics (CRAG) CSIC-IRTA-UAB-UB, Campus UAB, 08193 Cerdanyola del Valles, Catalonia, Spain.

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http://dx.doi.org/10.1186/s12864-016-2972-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002119PMC
August 2016

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

Eur J Hum Genet 2016 10 11;24(10):1501-5. Epub 2016 May 11.

Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2016.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027689PMC
October 2016

Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi.

J Invest Dermatol 2016 08 19;136(8):1718-1721. Epub 2016 Apr 19.

Department of Dermatology, Parc de Salut Mar, Hospital del Mar, Barcelona, Spain; Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.03.040DOI Listing
August 2016

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

Nat Commun 2015 Dec 9;6:10001. Epub 2015 Dec 9.

CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1038/ncomms10001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682041PMC
December 2015

Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses.

BMC Genomics 2015 Oct 9;16:764. Epub 2015 Oct 9.

Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559, Hannover, Germany.

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http://dx.doi.org/10.1186/s12864-015-1977-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600213PMC
October 2015

Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer.

Clin Cancer Res 2015 Oct 12;21(20):4709-18. Epub 2015 Jun 12.

Unit of Biomarkers and Susceptibility, Catalan Institute of Oncology (ICO), Bellvitge Biomedical Research Institute (IDIBELL) and CIBERESP, L'Hospitalet de Llobregat, Barcelona, Spain. Department of Clinical Sciences, Faculty of Medicine, University of Barcelona (UB), Barcelona, Spain.

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http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
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http://dx.doi.org/10.1158/1078-0432.CCR-15-0159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609254PMC
October 2015

Genomic characterization of mutant laboratory mouse strains by exome sequencing and annotation lift-over.

BMC Genomics 2015 May 6;16:351. Epub 2015 May 6.

Centro Nacional de Análisis Genómico, Parc Científic de Barcelona - Torre I, Baldiri Reixac, 4, 08028, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12864-015-1548-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422528PMC
May 2015

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

PLoS One 2015 16;10(3):e0119946. Epub 2015 Mar 16.

Cancer Genomics Group, IDIVAL, Instituto de Investigación Marqués de Valdecilla, Santander, Spain; Department of Pathology, Hospital Universitario Marqués de Valdecilla, Santander, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119946PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361059PMC
January 2016

Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication.

BMC Genomics 2014 Jul 4;15:562. Epub 2014 Jul 4.

Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany.

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http://dx.doi.org/10.1186/1471-2164-15-562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4097168PMC
July 2014

New genes emerging for colorectal cancer predisposition.

World J Gastroenterol 2014 Feb;20(8):1961-71

Clara Esteban-Jurado, Anna Abulí, Jenifer Muñoz, Francesc Balaguer, Teresa Ocaña, Antoni Castells, Josep M Piqué, Sergi Castellví-Bel, Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, 08036 Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.3748/wjg.v20.i8.1961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934466PMC
February 2014

Deep RNA sequencing of the skeletal muscle transcriptome in swimming fish.

PLoS One 2013 8;8(1):e53171. Epub 2013 Jan 8.

Departament de Fisiologia i Immunologia, Facultat de Biologia, Universitat de Barcelona and Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0053171PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3540090PMC
July 2013

RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase.

Mol Biol Cell 2013 Feb 14;24(3):351-60. Epub 2012 Dec 14.

Department of Molecular Genomics, Instituto de Biología Molecular de Barcelona, Consejo Superior de Investigaciones Científicas, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1091/mbc.E12-07-0561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564542PMC
February 2013

Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program.

Development 2012 Aug;139(15):2681-91

Department of Molecular Genomics, Instituto de Biología Molecular de Barcelona, Consejo Superior de Investigaciones Científicas, Barcelona, Spain.

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http://dx.doi.org/10.1242/dev.078345DOI Listing
August 2012

Transcriptomic characterization of the larval stage in gilthead seabream (Sparus aurata) by 454 pyrosequencing.

Mar Biotechnol (NY) 2012 Aug 14;14(4):423-35. Epub 2011 Dec 14.

Instituto de Ciencias Marinas de Andalucía (ICMAN-CSIC), Apartado Oficial 11510 Puerto Real, Cádiz, Spain.

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http://dx.doi.org/10.1007/s10126-011-9422-3DOI Listing
August 2012

Drosophila melanogaster SAP18 protein is required for environmental stress responses.

FEBS Lett 2011 Jan 10;585(2):275-80. Epub 2010 Dec 10.

Institut de Biologia Molecular de Barcelona, CSIC, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.febslet.2010.11.058DOI Listing
January 2011

Gene expression following induction of regeneration in Drosophila wing imaginal discs. Expression profile of regenerating wing discs.

BMC Dev Biol 2010 Sep 2;10:94. Epub 2010 Sep 2.

Departament de Genètica, and Institut de Biomedicina de la Universitat de Barcelona, Diagonal 645, 08028 Barcelona, Catalonia, Spain.

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http://bmcdevbiol.biomedcentral.com/articles/10.1186/1471-21
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http://dx.doi.org/10.1186/1471-213X-10-94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939566PMC
September 2010

Conserved chromosomal clustering of genes governed by chromatin regulators in Drosophila.

Genome Biol 2008 10;9(9):R134. Epub 2008 Sep 10.

Departament de Genètica and Institut de Biomedicina de la Universitat de Barcelona, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/gb-2008-9-9-r134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2592712PMC
January 2009

Thermal evolution of gene expression profiles in Drosophila subobscura.

BMC Evol Biol 2007 Mar 19;7:42. Epub 2007 Mar 19.

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

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http://dx.doi.org/10.1186/1471-2148-7-42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1847442PMC
March 2007

Transcriptional network controlled by the trithorax-group gene ash2 in Drosophila melanogaster.

Proc Natl Acad Sci U S A 2003 Mar 7;100(6):3293-8. Epub 2003 Mar 7.

Departament de Genètica, Universitat de Barcelona, Diagonal 645, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1073/pnas.0538075100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC152285PMC
March 2003