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Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, Robinson PN, Haendel MA, Zhai RG, Boerkoel CF. Gall T, et al. Among authors: lee e. Front Med (Lausanne). 2017 May 26;4:62. doi: 10.3389/fmed.2017.00062. eCollection 2017. Front Med (Lausanne). 2017. PMID: 28603714 Free PMC article.
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
Links AE, Draper D, Lee E, Guzman J, Valivullah Z, Maduro V, Lebedev V, Didenko M, Tomlin G, Brudno M, Girdea M, Dumitriu S, Haendel MA, Mungall CJ, Smedley D, Hochheiser H, Arnold AM, Coessens B, Verhoeven S, Bone W, Adams D, Boerkoel CF, Gahl WA, Sincan M. Links AE, et al. Among authors: lee e. Front Med (Lausanne). 2016 Oct 12;3:39. doi: 10.3389/fmed.2016.00039. eCollection 2016. Front Med (Lausanne). 2016. PMID: 27785453 Free PMC article.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, Robinson PN, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D. Bone WP, et al. Among authors: lee em. Genet Med. 2016 Jun;18(6):608-17. doi: 10.1038/gim.2015.137. Epub 2015 Nov 12. Genet Med. 2016. PMID: 26562225 Free PMC article.
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
Markello T, Chen D, Kwan JY, Horkayne-Szakaly I, Morrison A, Simakova O, Maric I, Lozier J, Cullinane AR, Kilo T, Meister L, Pakzad K, Bone W, Chainani S, Lee E, Links A, Boerkoel C, Fischer R, Toro C, White JG, Gahl WA, Gunay-Aygun M. Markello T, et al. Among authors: lee e. Mol Genet Metab. 2015 Mar;114(3):474-82. doi: 10.1016/j.ymgme.2014.12.307. Epub 2014 Dec 24. Mol Genet Metab. 2015. PMID: 25577287 Free PMC article.
Postmortem imaging reveals patterns of medial temporal lobe vulnerability to tau pathology in Alzheimer's disease.
Ravikumar S, Denning AE, Lim S, Chung E, Sadeghpour N, Ittyerah R, Wisse LEM, Das SR, Xie L, Robinson JL, Schuck T, Lee EB, Detre JA, Tisdall MD, Prabhakaran K, Mizsei G, de Onzono Martin MMI, Arroyo Jiménez MDM, Mũnoz M, Marcos Rabal MDP, Cebada Sánchez S, Delgado González JC, de la Rosa Prieto C, Irwin DJ, Wolk DA, Insausti R, Yushkevich PA. Ravikumar S, et al. Among authors: lee eb. Nat Commun. 2024 Jun 5;15(1):4803. doi: 10.1038/s41467-024-49205-0. Nat Commun. 2024. PMID: 38839876
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