Phenotyping: Targeting genotype's rich cousin for diagnosis-Reference-Cited by-同舟云学术

Phenotyping: Targeting genotype's rich cousin for diagnosis

Published:2014-08-11 Issue:4 Volume:51 Page:381-386
ISSN:1034-4810
Container-title:Journal of Paediatrics and Child Health
language:en
Short-container-title:J Paediatr Child Health

Author:

Baynam Gareth¹²³⁴,Walters Mark⁵,Claes Peter⁶,Kung Stefanie²,LeSouef Peter²,Dawkins Hugh³⁷⁸,Bellgard Matthew⁹,Girdea Marta¹⁰¹¹,Brudno Michael¹⁰¹¹,Robinson Peter¹²,Zankl Andreas¹³¹⁴¹⁵,Groza Tudor¹⁶,Gillett David⁵,Goldblatt Jack¹²

Affiliation:

1. Genetic Services of Western Australia; Princess Margaret Hospital for Children; Perth Western Australia Australia

2. School of Paediatrics and Child Health; University of Western Australia; Perth Western Australia Australia

3. Office of Population Health Genomics; Department of Health; Government of Western Australia; Perth Western Australia Australia

4. Institute for Immunology and Infectious Diseases; Murdoch University; Perth Western Australia Australia

5. Cranio-Maxillo-Facial Unit; Princess Margaret Hospital for Children; Perth Western Australia Australia

6. Medical Imaging Research Centre; Faculty of Engineering; KU Leuven; Leuven Belgium

7. Centre for Population Health Research; Curtin Health Innovation Research Institute; Curtin University of Technology; Perth Western Australia Australia

8. School of Pathology and Laboratory Medicine; University of Western Australia; Perth Western Australia Australia

9. Centre for Comparative Genomics; Murdoch University; Perth Western Australia Australia

10. Department of Computer Science; University of Toronto; Toronto Ontario Canada

11. Centre for Computational Medicine; Hospital for Sick Children; Toronto Ontario Canada

12. Institute of Medical Genetics and Human Genetics; Charité - Universitätsmedizin; Berlin Germany

13. Academic Department of Medical Genetics; Western Sydney Genetics Program; Sydney Children's Hospital Network; Sydney New South Wales Australia

14. Discipline of Genetic Medicine; University of Sydney; Sydney New South Wales Australia

15. Centre for Clinical Research; University of Queensland; Brisbane Queensland Australia

16. School of Information Technology and Electrical Engineering; University of Queensland; Brisbane Queensland Australia

Funder

National Health and Medical Research Council

Framework Program 7 Grant: RD-Connect

Raine Clinician Research Fellowship, UWA

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jpc.12705/fullpdf

Reference26 articles.

1. Deep phenotyping for precision medicine;Robinson;Hum. Mutat.,2012

2. Carrier testing for severe childhood recessive diseases by next-generation sequencing;Bell;Sci. Transl. Med.,2011

3. Next-generation sequencing demands next-generation phenotyping;Hennekam;Hum. Mutat.,2012

4. The human phenotype ontology;Robinson;Clin. Genet.,2010

5. Improved exome prioritization of disease genes through cross species phenotype comparison;Robinson;Genome Res.,2013

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