Characterization of intellectual disability and autism comorbidity through gene panel sequencing-Reference-Cited by-同舟云学术

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Published:2019-09 Issue:9 Volume:40 Page:1346-1363
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Aspromonte Maria C.¹²^ORCID,Bellini Mariagrazia¹²,Gasparini Alessandra³,Carraro Marco³,Bettella Elisa¹²,Polli Roberta¹²,Cesca Federica¹²,Bigoni Stefania⁴,Boni Stefania⁵,Carlet Ombretta⁶,Negrin Susanna⁶,Mammi Isabella⁷,Milani Donatella⁸,Peron Angela⁹¹⁰,Sartori Stefano¹¹,Toldo Irene¹¹,Soli Fiorenza¹²,Turolla Licia¹³,Stanzial Franco¹⁴,Benedicenti Francesco¹⁴,Marino‐Buslje Cristina¹⁵^ORCID,Tosatto Silvio C.E.³¹⁶^ORCID,Murgia Alessandra¹²,Leonardi Emanuela¹²^ORCID

Affiliation:

1. Molecular Genetics of Neurodevelopment, Department of Woman and Child HealthUniversity of Padova C.so Stati Uniti, 4 Padova Italy

2. Fondazione Istituto di Ricerca PediatricaCittà della Speranza Padova Italy

3. Department of Biomedical SciencesUniversity of Padova Padova Italy

4. Medical Genetics UnitOspedale Universitario S. Anna Ferrara Italy

5. Medical Genetics UnitSan Martino Hospital Belluno Italy

6. Epilepsy and Child Neurophysiology UnitScientific Institute IRCCS E. Medea Treviso Italy

7. Medical Genetics UnitDolo General Hospital Venezia Italy

8. Fondazione IRCCS, Ca' GrandaPediatric Highly Intensive Care Unit Milan Italy

9. Child Neuropsychiatry Unit, Epilepsy Center, Department of Health Sciences, Santi Paolo‐Carlo HospitalUniversity of Milano Milano Italy

10. Division of Medical Genetics, Department of PediatricsUniversity of Utah School of Medicine Salt Lake City Utah

11. Paediatric Neurology Unit, Department of Woman and Child HealthUniversity Hospital of Padova Padova Italy

12. Medical Genetics DepartmentAPSS Trento Trento Italy

13. Medical Genetics UnitLocal Health Authority Treviso Italy

14. Genetic Counseling Service, Department of PediatricsRegional Hospital of Bolzano Bolzano Italy

15. Bioinformatics UnitFundación Instituto Leloir Buenos Aires Argentina

16. Institute of NeuroscienceNational Research Council Padova Italy

Funder

Foundation for the National Institutes of Health

Ministero della Salute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23822

Reference83 articles.

1. A global reference for human genetic variation

2. 15q11.2 Proximal Imbalances Associated With a Diverse Array of Neuropsychiatric Disorders and Mild Dysmorphic Features

3. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

4. Gait characteristics in individuals with intellectual disabilities: A literature review

5. The MPI bioinformatics Toolkit as an integrative platform for advanced protein sequence and structure analysis

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