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

• Sheila Castro-Sánchez,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Software, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain, Research Group of Rare Diseases & Pediatric Medicine, Instituto de Investigación Sanitaria Galicia Sur (IISGS), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, Vigo, Spain, Centro de Investigaciones Biomédicas (CINBIO) (Centro Singular de Investigación de Galicia), Universidad de Vigo, Vigo, Spain

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• María Álvarez-Satta,

  Roles Formal analysis, Funding acquisition, Investigation, Validation, Writing – review & editing

  Affiliations Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain, Research Group of Rare Diseases & Pediatric Medicine, Instituto de Investigación Sanitaria Galicia Sur (IISGS), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, Vigo, Spain, Centro de Investigaciones Biomédicas (CINBIO) (Centro Singular de Investigación de Galicia), Universidad de Vigo, Vigo, Spain

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• Mohamed A. Tohamy,

  Roles Formal analysis, Investigation, Validation, Writing – review & editing

  Current address: Department of Biochemistry, Faculty of Pharmacy, Beni-Suef University, Beni-Suef, Egypt

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

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• Sergi Beltran,

  Roles Data curation, Formal analysis, Investigation, Methodology, Resources, Software, Validation, Writing – review & editing

  Affiliations CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain, Universitat Pompeu Fabra (UPF), Barcelona, Spain

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• Sophia Derdak,

  Roles Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Writing – review & editing

  Affiliations CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain, Universitat Pompeu Fabra (UPF), Barcelona, Spain

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• Diana Valverde

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: dianaval@uvigo.es

  Affiliations Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain, Research Group of Rare Diseases & Pediatric Medicine, Instituto de Investigación Sanitaria Galicia Sur (IISGS), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, Vigo, Spain, Centro de Investigaciones Biomédicas (CINBIO) (Centro Singular de Investigación de Galicia), Universidad de Vigo, Vigo, Spain

  http://orcid.org/0000-0002-7024-1657

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