Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Davidson BL, Gao G, Berry-Kravis E, Bradbury AM, B?nnemann C, Buxbaum JD, Corcoran GR, Gray SJ, Gray-Edwards H, Kleiman RJ, Shaywitz AJ, Wang D, Zoghbi HY, Flotte TR, Tauscher-Wisniewski S, Tifft CJ, Sahin M. Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. Mol Ther. 2022 07 06; 30(7):2416-2428.
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Bettio C, Salsi V, Orsini M, Calanchi E, Magnotta L, Gagliardelli L, Kinoshita J, Bergamaschi S, Tupler R. The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease. Orphanet J Rare Dis. 2021 11 04; 16(1):470.
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Glenn DA, Hogan SL. Big Data and Glomerular Disease: Uncovering Common Outcomes of Rare Disease. J Am Soc Nephrol. 2021 09; 32(9):2106-2108.
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Pasquini TLS, Goff SL, Whitehill JM. Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents' experiences. Orphanet J Rare Dis. 2021 07 15; 16(1):313.
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Abbott MA, Diebold WJ, Rosengren SS. Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome. Am J Med Genet C Semin Med Genet. 2021 06; 187(2):219-223.
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Gallicchio L, Daee DL, Rotunno M, Barajas R, Fagan S, Carrick DM, Divi RL, Filipski KK, Freedman AN, Gillanders EM, Lam TK, Martin DN, Rogers S, Verma M, Nelson SA. Epidemiologic Research of Rare Cancers: Trends, Resources, and Challenges. Cancer Epidemiol Biomarkers Prev. 2021 07; 30(7):1305-1311.
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Finkel RS, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Shieh PB, Tizzano E, Desguerre I, Quijano-Roy S, Saito K, Droege M, Dabbous O, Khan F, Renault L, Anderson FA, Servais L. RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design. J Neuromuscul Dis. 2020; 7(2):145-152.
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Seckeler MD, Moedano L, Mustacich D, Kalb BT, Saranathan M, Galons JP, Witte MH. Non-contrast MR lymphography of rare lymphatic abnormalities. Lymphology. 2020; 53(3):136-140.
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Dhawan A, Lawlor MW, Mazariegos GV, McKiernan P, Squires JE, Strauss KA, Gupta D, James E, Prasad S. Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives. J Gastroenterol Hepatol. 2020 Apr; 35(4):530-543.
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Johnson AC, Ethun CG, Liu Y, Lopez-Aguiar AG, Tran TB, Poultsides G, Grignol V, Howard JH, Bedi M, Gamblin TC, Tseng J, Roggin KK, Chouliaras K, Votanopoulos K, Cullinan D, Fields RC, Delman KA, Wood WC, Cardona K, Maithel SK. Studying a Rare Disease Using Multi-Institutional Research Collaborations vs Big Data: Where Lies the Truth? J Am Coll Surg. 2018 09; 227(3):357-366.e3.