Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

Author:

Guida Valentina1,Sparascio Francesca Piceci12,Bernardini Laura1,Pancheri Francesco3,Melis Daniela45,Cocciadiferro Dario16,Pagnoni Mario7,Puzzo Marianna1,Goldoni Marina1,Barone Chiara8,Hozhabri Hossein1,Putotto Carolina3,Giuffrida Maria Grazia1,Briuglia Silvana9,Palumbo Orazio1,Bianca Sebastiano8,Stanzial Franco10,Benedicenti Francesco10,Kariminejad Ariana11ORCID,Forzano Francesca12,Baghernajad Salehi Leila13,Mattina Teresa14,Brancati Francesco15,Castori Marco1ORCID,Carella Massimo1,Fadda Maria Teresa7,Iannetti Giorgio7,Dallapiccola Bruno16,Digilio Maria Cristina16ORCID,Marino Bruno3,Tartaglia Marco16ORCID,De Luca Alessandro1ORCID

Affiliation:

1. Medical Genetics Division Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy

2. Department of Experimental Medicine “Sapienza” University of Rome Rome Italy

3. Department of Pediatrics, Obstetrics and Gynecology “Sapienza” University of Rome Rome Italy

4. Department of Translational Medical Sciences, Section of Pediatrics University of Naples “Federico II” Naples Italy

5. Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana” University of Salerno Salerno Italy

6. Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

7. Department of Maxillo‐Facial Surgery Policlinico Umberto I Rome Italy

8. Medical Genetics, Referral Center for Rare Genetic Diseases ARNAS Garibaldi Catania Italy

9. Department of Human Pathology of Adult and Childhood "Gaetano Barresi", Unit of Emergency Pediatrics University of Messina Messina Italy

10. Genetic Counseling Service, Department of Pediatrics Regional Hospital of Bolzano Bolzano Italy

11. Kariminejad‐Najmabadi Pathology and Genetics Center Tehran Iran

12. Clinical Genetics Department Guy's & St Thomas' NHS Foundation Trust London UK

13. Medical Genetics Unit Tor Vergata University Hospital, PTV Rome Italy

14. Unit of Medical Genetics University of Catania Catania Italy

15. Department of Life, Health and Environmental Sciences Unit of Medical Genetics University of L'Aquila L'Aquila Italy

16. Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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