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Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication

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Authors and Affiliations

  1. Medical Genetics Laboratory, Clinical Genetics Division, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense 87, 00152, Rome, Italy

    Giulia Pascolini, Silvia Majore & Paola Grammatico

  2. Laboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children’s Hospital, Rome, Italy

    Emanuele Agolini, Sara Loddo & Antonio Novelli

  3. FDNA Inc., Boston, MA, USA

    Nicole Fleischer

  4. Child Neuropsychiatry Unit, ASL C-Local Health District, Viterbo, Italy

    Rosella Pierantoni

  5. Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, FG, Italy

    Laura Bernardini

Authors
  1. Giulia Pascolini
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  2. Emanuele Agolini
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  3. Nicole Fleischer
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  4. Rosella Pierantoni
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  5. Sara Loddo
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  6. Antonio Novelli
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  7. Laura Bernardini
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  8. Silvia Majore
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  9. Paola Grammatico
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Contributions

All authors contributed to the study conception and design. The first draft of the manuscript was written by Giulia Pascolini and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Conceptualization: Giulia Pascolini; methodology: Giulia Pascolini, Emanuele Agolini, Rosella Pierantoni, Silvia Majore; formal analysis and investigation: Giulia Pascolini, Emanuele Agolini, Nicole Fleischer, Sara Loddo, Antonio Novelli, Laura Bernardini; writing—original draft preparation: Giulia Pascolini; writing—review and editing: Giulia Pascolini, Silvia Majore; supervision: Paola Grammatico.

Corresponding author

Correspondence to Giulia Pascolini.

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Conflict of interest

Nicole Fleischer is an employee of FDNA Inc., the company providing Face2Gene.

Ethical approval

This study was conducted according to the Helsinki declaration and approved by the internal review board.

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Informed consent for study and images publication was obtained.

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Pascolini, G., Agolini, E., Fleischer, N. et al. Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication. Neurol Sci 41, 3751–3753 (2020). https://doi.org/10.1007/s10072-020-04510-6

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  • DOI: https://doi.org/10.1007/s10072-020-04510-6

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