Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The National Institutes of Health undiagnosed diseases program experience

Frontiers in Medicine

Volumn 4, Issue MAY, 2017, Pages

  Gall, Timothy ^a,b   Valkanas, Elise ^a   Bello, Christofer ^c   Markello, Thomas ^a   Adams, Christopher ^a   Bone, William P ^a   Brandt, Alexander J ^a   Brazill, Jennifer M ^c   Carmichael, Lynn ^d   Davids, Mariska ^a   Davis, Joie ^a   Diaz Perez, Zoraida ^c   Draper, David ^a,b   Elson, Jeremy ^e   Flynn, Elise D ^a   Godfrey, Rena ^a   Groden, Catherine ^a   Hsieh, Cheng Kang ^e   Fischer, Roxanne ^b   Golas, Gretchen A ^a   Guzman, Jessica ^a   Huang, Yan ^a   Kane, Megan S ^a   Lee, Elizabeth ^a   Li, Chong ^c   Links, Amanda E ^a   Maduro, Valerie ^a   Malicdan, May Christine V ^a   Malik, Fayeza S ^c   Nehrebecky, Michele ^a   Park, Joun ^c   Pemberton, Paul ^a   Schaffer, Katherine ^a   Simeonov, Dimitre ^a   Sincan, Murat ^a   Smedley, Damian ^f   Valivullah, Zaheer ^a   Wahl, Colleen ^a   Washington, Nicole ^g   Wolfe, Lynne A ^a,b   Xu, Karen ^a   Zhu, Yi ^c   Gahl, William A ^a,b   Tifft, Cynthia J ^a,b   Toro, Camillo ^a   Adams, David R ^a,b   He, Miao ^h,i   Robinson, Peter N ^j   Haendel, Melissa A ^k   Grace Zhai, R ^c   Boerkoel, Cornelius F ^a   more..

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d Appistry Inc   (United States)

^e MICROSOFT RESEARCH   (United States)

^f QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^g LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

^j JACKSON LABORATORY   (United States)

^k OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

more..

Author keywords

Diploid alignment; Distributed cognition; Glycome; Human phenotype ontology; Rare disease

Indexed keywords

EID: 85045346313     PISSN: None     EISSN: 2296858X     Source Type: Journal    
DOI: 10.3389/fmed.2017.00062     Document Type: Article

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