NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis

• Davide Gentilini ,

  Roles Conceptualization, Data curation, Formal analysis, Methodology, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: davide.gentilini@unipv.it

  Affiliations Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy, Istituto Auxologico Italiano IRCCS, Bioinformatics and Statistical Genomics Unit, Cusano Milanino, Milano, Italy, Istituto Auxologico Italiano IRCCS, Molecular Biology Laboratory, Cusano Milanino, Milano, Italy

  http://orcid.org/0000-0002-8391-0725

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• Antonino Oliveri,

  Roles Data curation, Formal analysis, Methodology

  Affiliation Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy

  http://orcid.org/0000-0003-2621-6443

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• Teresa Fazia,

  Roles Data curation, Supervision, Writing – review & editing

  Affiliation Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy

  http://orcid.org/0000-0002-9577-8450

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• Alessandro Pini,

  Roles Data curation, Writing – review & editing

  Affiliations Rare Disease Center, Marfan Clinic, Cardiology department, ASST-FBF-Sacco, Milano, Italy, Centro di Cardiogenetica Vascolare IRCCS Policlinico San Donato, San Donato Milanese, Milano, Italy

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• Susan Marelli,

  Roles Data curation, Writing – review & editing

  Affiliation Rare Disease Center, Marfan Clinic, Cardiology department, ASST-FBF-Sacco, Milano, Italy

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• Luisa Bernardinelli,

  Roles Supervision, Writing – original draft, Writing – review & editing

  Affiliation Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy

  http://orcid.org/0000-0002-7551-6664

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• Anna Maria Di Blasio

  Roles Writing – review & editing

  Affiliation Istituto Auxologico Italiano IRCCS, Molecular Biology Laboratory, Cusano Milanino, Milano, Italy

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