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Original article
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Authors

  • Irene Madrigal Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Maria Isabel Alvarez-Mora Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Olof Karlberg Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden PubMed articlesGoogle scholar articles
  • Laia Rodríguez-Revenga Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Dei M Elurbe Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Raquel Rabionet Centre for Genomic Regulation (CRG) and UPF and CIBERESP, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Antonio Mur Paediatrics Service, Hospital Universitario del Mar, Barcelona, Spain Paediatrics and Obstetrics Department, Universidad de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Juan Pie Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology, Medical School, University of Zaragoza, Zaragoza, Spain PubMed articlesGoogle scholar articles
  • Francisca Ballesta Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Sascha Sauer Max-Planck Institute for Molecular Genetics, Berlin, Germany PubMed articlesGoogle scholar articles
  • Ann-Christine Syvänen Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden PubMed articlesGoogle scholar articles
  • Montserrat Milà Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Montserrat Milà Recasens, Biochemistry and Molecular Genetics Service, Hospital Clínic, C/Villarroel, 170 08036 Barcelona, Spain; mmila{at}clinic.ub.es
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Citation

Madrigal I, Alvarez-Mora MI, Karlberg O, et al
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes
Journal of Clinical Pathology 2014;67:1099-1103.

Publication history

  • Received August 7, 2014
  • Revised September 15, 2014
  • Accepted September 16, 2014
  • First published September 30, 2014.
Online issue publication 
June 14, 2020

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