A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network - 25/04/18
Doi : 10.1016/j.jpeds.2017.12.029
Chloe M. Reuter, MS 1, 2, Elise Brimble, MSc, MS 3, Colette DeFilippo, MS 4, 5, Annika M. Dries, BA 1, 2, 
Undiagnosed Diseases Network
Gregory M. Enns, MB, ChB 4, Euan A. Ashley, MB, ChB, FRCP, DPhil 1, 2, 6, Jonathan A. Bernstein, MD, PhD 1, 4, 5, Paul Graham Fisher, MD 1, 3, 7, Matthew T. Wheeler, MD, PhD 1, 2, * 1 Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA
2 Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA
3 Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA
4 Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA
5 Stanford Children's Health, Palo Alto, CA
6 Department of Genetics, Stanford University School of Medicine, Stanford, CA
7 Department of Pediatrics, Stanford University School of Medicine, Stanford, CA
*Reprint requests: Matthew T. Wheeler, MD, PhD, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305.Division of Cardiovascular MedicineStanford University School of MedicineStanfordCA94305
Keywords : FOXG1, whole exome sequencing, genetic testing, clinical research, diagnostic dilemma, diagnostic odyssey, secondary finding
Abbreviations : UDN, WES
Plan
| Supported by the National Institutes of Health (NIH) Common Fund through the Office of Strategic Coordination/Office of the NIH Director under Award Number(s) U01HG007708, U01HG007942, and U01HG007530. E.A. is a Founder of Personalis Inc, Deep Cell Inc, and advisor to Genome Medical and SequenceBio. M.W. has ownership interest in Personalis Inc. P.F. serves as an Associate Editor for The Journal of Pediatrics. The other authors declare no conflicts of interest. |
© 2017
Elsevier Inc. Tous droits réservés.
Vol 196
P. 291 - mai 2018 Retour au numéro
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