Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease | Zendy

Kimberly Splinter | Zendy; David R. Adams | Zendy; Carlos A. Bacino | Zendy; Hugo J. Bellen | Zendy; Jonathan A. Bernstein | Zendy; Alys M. Cheatle Jarvela | Zendy; Christine M. Eng | Zendy; Cecilia Esteves | Zendy; William A. Gahl | Zendy; Rizwan Hamid | Zendy; Howard J. Jacob | Zendy; Bijal Kikani | Zendy; David M. Koeller | Zendy; Isaac S. Kohane | Zendy; Brendan Lee | Zendy; Joseph Loscalzo | Zendy; Xi Luo | Zendy; Alexa T. McCray | Zendy; Thomas Metz | Zendy; John J. Mulvihill | Zendy; Stanley F. Nelson | Zendy; Christina G.S. Palmer | Zendy; John A. Phillips | Zendy; Leslie Pick | Zendy; John H. Postlethwait | Zendy; Chloe M. Reuter | Zendy; Vandana Shashi | Zendy; David A. Sweetser | Zendy; Cynthia J. Tifft | Zendy; Sophie Nicole | Zendy; Michael F. Wangler | Zendy; Monte Westerfield | Zendy; Matthew T. Wheeler | Zendy; Anastasia L. Wise | Zendy; Elizabeth A. Worthey | Zendy; Shinya Yamamoto | Zendy; Euan A. Ashley | Zendy

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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Author(s) -

Kimberly Splinter,

David R. Adams,

Carlos A. Bacino,

Hugo J. Bellen,

Jonathan A. Bernstein,

Alys M. Cheatle Jarvela,

Christine M. Eng,

Cecilia Esteves,

William A. Gahl,

Rizwan Hamid,

Howard J. Jacob,

Bijal Kikani,

David M. Koeller,

Isaac S. Kohane,

Brendan Lee,

Joseph Loscalzo,

Xi Luo,

Alexa T. McCray,

Thomas Metz,

John J. Mulvihill,

Stanley F. Nelson,

Christina G.S. Palmer,

John A. Phillips,

Leslie Pick,

John H. Postlethwait,

Chloe M. Reuter,

Vandana Shashi,

David A. Sweetser,

Cynthia J. Tifft,

Sophie Nicole,

Michael F. Wangler,

Monte Westerfield,

Matthew T. Wheeler,

Anastasia L. Wise,

Elizabeth A. Worthey,

Shinya Yamamoto,

Euan A. Ashley

Publication year - 2018

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1714458

Subject(s) - biorepository , multidisciplinary approach , disease , medicine , center (category theory) , family medicine , biobank , bioinformatics , biology , pathology , social science , chemistry , sociology , crystallography

Many patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases. The UDN, which is funded by the National Institutes of Health, was formed in 2014 as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a central biorepository, a metabolomics core, and a model organisms screening center were added.

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