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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. Boycott KM, et al. Among authors: krischer jp. Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003. Am J Hum Genet. 2017. PMID: 28475856 Free PMC article.
Research into rare diseases of childhood.
Batshaw ML, Groft SC, Krischer JP. Batshaw ML, et al. Among authors: krischer jp. JAMA. 2014 May 7;311(17):1729-30. doi: 10.1001/jama.2013.285873. JAMA. 2014. PMID: 24794360 Free PMC article. No abstract available.
Clinical Trial Design for Alpha-1 Antitrypsin Deficiency: A Model for Rare Diseases.
Wanner A, Groft SC, Teagarden JR, Krischer J, Davis BR, Coffey CS, Hickam DH, Teckman J, Nelson DR, McCaleb ML, Loomba R, Strange C, Sandhaus RA, Brantly M, Edelman JM, Farrugia A. Wanner A, et al. Chronic Obstr Pulm Dis. 2015 Apr 28;2(2):177-190. doi: 10.15326/jcopdf.2.2.2015.0132. Chronic Obstr Pulm Dis. 2015. PMID: 28848840 Free PMC article.
Down syndrome: national conference on patient registries, research databases, and biobanks.
Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, Capone G, Collier E, Hall D, Kaeser L, Kaufmann P, Krischer J, Livingston M, McCabe LL, Pace J, Pfenninger K, Rasmussen SA, Reeves RH, Rubinstein Y, Sherman S, Terry SF, Whitten MS, Williams S, McCabe ER, Maddox YT. Oster-Granite ML, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):13-22. doi: 10.1016/j.ymgme.2011.07.005. Epub 2011 Jul 13. Mol Genet Metab. 2011. PMID: 21835664 Free PMC article.
Clinical research for rare disease: opportunities, challenges, and solutions.
Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Griggs RC, et al. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13. Mol Genet Metab. 2009. PMID: 19013090 Free PMC article.
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.
Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium; Hart TS, Cuthbertson DD, Sutton VR, Krischer JP. Tosi LL, et al. Among authors: krischer jp. Orphanet J Rare Dis. 2019 Jan 29;14(1):23. doi: 10.1186/s13023-019-1004-x. Orphanet J Rare Dis. 2019. PMID: 30696467 Free PMC article.
352 results