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Case Reports
. 2018 May:196:291-297.e2.
doi: 10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11.

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network

Chloe M Reuter  1 , Elise Brimble  2 , Colette DeFilippo  3 , Annika M Dries  1 ; Undiagnosed Diseases Network; Gregory M Enns  4 , Euan A Ashley  5 , Jonathan A Bernstein  6 , Paul Graham Fisher  7 , Matthew T Wheeler  8
Affiliations
Case Reports

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network

Chloe M Reuter et al. J Pediatr. 2018 May.
No abstract available

Keywords: FOXG1; clinical research; diagnostic dilemma; diagnostic odyssey; genetic testing; secondary finding; whole exome sequencing.

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Figures

Figure 1
Figure 1
Geographical representation and structure of Undiagnosed Diseases Network clinical and research sites as of September 28th, 2017.
Figure 2
Figure 2
Sample workflow of patient application and participation in the UDN.
See this image and copyright information in PMC

References

    1. Haffner ME, Whitley J, Moses M. Two decades of orphan product development. Nature. 2002;1(October 2002):821–5. - PubMed
    1. Spillmann RC, McConkie-Rosell A, Pena L, Jiang Y-H, Schoch K, Walley N, et al. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. Orphanet J Rare Dis [Internet] 2017;12(1):71. Available from: http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0623-3. - DOI - PMC - PubMed
    1. Carmichael N, Tsipis J, Windmueller G, Mandel L, Estrella E. “Is it Going to Hurt”: The Impact of the Diagnostic Odyssey on Children and Their Families. J Genet Couns. 2015;24(2):325–35. - PubMed
    1. Gahl WA, Wise AL, Ashley EA. The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension. JAMA : the journal of the American Medical Association. 2015;314(17):1797–8. - PubMed
    1. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med [Internet] 2015;17(5):405–23. Available from: http://dx.doi.org/10.1038/gim.2015.30. - DOI - PMC - PubMed

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