Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Roman YM. Pharmacogenomics and rare diseases: optimizing drug development and personalized therapeutics. Pharmacogenomics. 2025 Feb-Mar; 26(3-4):121-128.
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Stratton C, Taylor A, Konstantinidis M, McNiven V, Kannu P, Gill P, Stedman I, Veroniki AA, Offringa M, Potter B, Wong-Rieger D, Adams J, Hodgkinson K, Elliott AM, Neville A, Faughnan M, Dyack S, Zhelnov P, Daly-Cyr J, McGowan J, Straus S, Smith M, Rosella L, Tricco AC. Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol. JBI Evid Synth. 2025 Mar 01; 23(3):546-553.
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Ahmed MA, Krishna R, Rayad N, Albusaysi S, Mitra A, Shang E, Hon YY, AbuAsal B, Bakhaidar R, Roman YM, Bhattacharya I, Cloyd J, Patel M, Kartha RV, Younis IR. Getting the Dose Right in Drug Development for Rare Diseases: Barriers and Enablers. Clin Pharmacol Ther. 2024 Dec; 116(6):1412-1432.
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Bentley SA, Ahmad S, Kobeissy FH, Toklu HZ. Concomitant Guillain-Barr? Syndrome and COVID-19: A Meta-Analysis of Cases. Medicina (Kaunas). 2022 Dec 13; 58(12).
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East KM, Kelley WV, Cannon A, Cochran ME, Moss IP, May T, Nakano-Okuno M, Sodeke SO, Edberg JC, Cimino JJ, Fouad M, Curry WA, Hurst ACE, Bowling KM, Thompson ML, Bebin EM, Johnson RD, Cooper GM, Might M, Barsh GS, Korf BR. A state-based approach to genomics for rare disease and population screening. Genet Med. 2021 04; 23(4):777-781.
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Ji X, Jin C, Dong X, Dixon MS, Williams KP, Zheng W. Literature-Wide Association Studies (LWAS) for a Rare Disease: Drug Repurposing for Inflammatory Breast Cancer. Molecules. 2020 Aug 28; 25(17).
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Nagra N, Tolentino L, Singhvi G. Esophageal Melanosis: A Rare Condition of Undetermined Significance. Clin Gastroenterol Hepatol. 2020 05; 18(5):e59.
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K?hler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Y?ksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, G?mez-Andr?s D, Lochm?ller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res. 2019 01 08; 47(D1):D1018-D1027.
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Shi Y, Pramanik A, Tchounwou C, Pedraza F, Crouch RA, Chavva SR, Vangara A, Sinha SS, Jones S, Sardar D, Hawker C, Ray PC. Multifunctional biocompatible graphene oxide quantum dots decorated magnetic nanoplatform for efficient capture and two-photon imaging of rare tumor cells. ACS Appl Mater Interfaces. 2015 May 27; 7(20):10935-43.
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Yoo WJ, Choi IH, Yun YH, Cho TJ, Cheon JE, Song MH, Chung CY, Park MS, Choi E, Lee HJ, Park KU. Primary epiphyseal osteomyelitis caused by mycobacterium species in otherwise healthy toddlers. J Bone Joint Surg Am. 2014 Sep 03; 96(17):e145.