Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge-Reference-Cited by-同舟云学术

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge

Published:2019-09 Issue:9 Volume:40 Page:1330-1345
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Carraro Marco¹,Monzon Alexander Miguel¹^ORCID,Chiricosta Luigi¹,Reggiani Francesco¹²,Aspromonte Maria Cristina³,Bellini Mariagrazia³⁴,Pagel Kymberleigh⁵,Jiang Yuxiang⁵,Radivojac Predrag⁵,Kundu Kunal⁶⁷,Pal Lipika R.⁶,Yin Yizhou⁶⁷^ORCID,Limongelli Ivan⁸^ORCID,Andreoletti Gaia⁶⁹^ORCID,Moult John⁶⁹^ORCID,Wilson Stephen J.¹⁰,Katsonis Panagiotis¹⁰^ORCID,Lichtarge Olivier¹⁰^ORCID,Chen Jingqi¹¹^ORCID,Wang Yaqiong¹¹,Hu Zhiqiang¹¹,Brenner Steven E.¹¹^ORCID,Ferrari Carlo²,Murgia Alessandra³⁴,Tosatto Silvio C.E.¹¹²^ORCID,Leonardi Emanuela³⁴^ORCID

Affiliation:

1. Department of Biomedical SciencesUniversity of Padua Padua Italy

2. Department of Information EngineeringUniversity of Padua Padua Italy

3. Department of Woman and Child HealthUniversity of Padua Padua Italy

4. Fondazione Istituto di Ricerca Pediatrica (IRP)Città della Speranza Padova Italy

5. Khoury College of Computer and Information SciencesNortheastern University Boston Massachusetts

6. Institute for Bioscience and Biotechnology ResearchUniversity of Maryland Rockville Maryland

7. Computational Biology, Bioinformatics and Genomics, Biological Sciences Graduate ProgramUniversity of Maryland College Park Maryland

8. enGenome srl, via Ferrata 5 Pavia Italy

9. Department of Cell Biology and Molecular GeneticsUniversity of Maryland College Park Maryland

10. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

11. Department of Plant and Microbial BiologyUniversity of California Berkeley California

12. Institute of Neuroscience, National Research Council (CNR) Padua Italy

Funder

Foundation for the National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23823

Reference43 articles.

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

2. Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

3. Aspromonte M. C. Bellini M. Gasparini A. Carraro M. Bettella E. Polli R. …Cesca F.(2019). Characterization of intellectual disability and autism comorbidity through gene panel sequencing.” .https://doi.org/.org/10.1101/545772

4. Network medicine: a network-based approach to human disease

5. Epilepsy and intellectual disability

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