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Rare Diseases Clinical Research Network (RDCRN) Publications Rare Diseases Clinical Research Network (RDCRN) Publications Updated: July 11, 2018 RDCRN Data Management and Coordinating Center Publications DMCC Publications RDCRN Descriptive Publications RDCRN Publications RDCRN Publications, Current Grant Cycle Consortia Advancing Research & Treatment for Frontotemporal Lobar Degeneration Autonomic Rare Disease Clinical Research Consortium Brain Vascular Malformations Consortium Brittle Bone Disorders Consortium Clinical Research in ALS & Related Disorders for Therapeutic Development Consortium of Eosinophilic Gastrointestinal Disease Researchers Developmental Synaptopathies Consortium Dystonia Coalition Genetic Disorders of Mucociliary Clearance Inherited Neuropathies Consortium Lysosomal Disease Network Nephrotic Syndrome Rare Disease Clinical Research Network North American Mitochondrial Diseases Consortium Porphyrias Consortium Primary Immune Deficiency Treatment Consortium Rare Kidney Stone Consortium Rare Lung Diseases Consortium Rett Syndrome, MECP2 Duplications, and Rett-related Disorders Consortium Sterol and Isoprenoid Diseases Consortium Urea Cycle Disorders Consortium Vasculitis Clinical Research Consortium Resources are listed by consortium and publication type and sorted by date. JAMA Style. Send any updates to Cameron Hainline at [email protected] RDCRN Publications, Previous Grant Cycle Consortia Angelman, Rett, and Prader-Willi Syndromes Consortium Bone Marrow Failure Consortium Cholestatic Liver Disease Consortium Chronic Graft Versus Host Disease Consortium Clinical Research Consortium for Spinocerebellar Ataxias Consortium for Clinical Investigation of Neurologic Channelopathies Rare Genetic Steroid Disorders Rare Thrombotic Diseases Salivary Gland Carcinomas Consortium 2 RDCRN Data Management and Coordinating Center Publications Book Chapters 1. Krischer JP. Clinical trials for rare lung diseases. In: McCormack FX, Panos RJ, Trapnell BC, eds. Molecular Basis of Pulmonary Disease. 1st ed: Springer; 2010. 2. Richesson R, Vehik K. Patient Registries: Utility, Validity and Inference. In: (ed) IPMGS, ed. Rare Diseases Epidemiology, 1st edn: Springer, The Netherlands; 2010. 3. Richesson R, Andrews J. Clinical Research Informatics: Springer-Verlag:, London; 2010. Abstracts Presented at Conferences 1. Krischer J. Data collection and analysis from multiple research sites: The Rare Diseases Clinical Research Network. Paper presented at: International Conference on Rare Diseases & Orphan Drugs; February 16, 2005; Stockholm, Sweden. 2. Richesson R, Young K, Malloy J, Lloyd J, Krischer J. A contact registry for persons with rare diseases: a tool for recruiting and retaining participants in a clinical research network. Paper presented at: Inventory and Evaluation of Clinical Research Networks; May 31, 2006; Washington, DC. 3. Malloy J, Richesson R, Krischer J. The Adverse Event Management System for the Rare Disease Clinical Research Network. Paper presented at: Inventory and Evaluation of Clinical Research Networks; May 31, 2006; Washington, D.C. 4. Richesson R. Identifying and evaluating health data standards. Paper presented at: American Public Health Association; November 4-8, 2006; Boston, MA. 5. Richesson R, Young K, Malloy J, Guillette H, Krischer J. A contact registry for persons with rare diseases: a tool for recruiting and retaining. Paper presented at: Clinical Trials Expo, Annual Symposium of the American Medical Informatics Association; November 13, 2006; Washington, DC. 6. Richesson R. Best practices for collaborative development of terminology and standards. Paper presented at: First Annual NHLBI Community Forum on Data Standards and Terminology; May 29-30, 2007; Bethesda, MD. 7. Niland J, Dorr D, El Saadawi G, Embi P, Richesson R, Sim I, Martin R. Knowledge representation of eligibility criteria in clinical trials. Paper presented at: American Medical Informatics Association Annual Symposium; November, 2007; Chicago, IL. 8. Richesson R, Lee H, Cuthbertson D, Lloyd J, Young K, Krischer J. An automated contact registry for persons with rare diseases: scalable tools for identifying and communicating with clinical research participants. Paper presented at: International Conference on Rare Diseases and Orphan Drugs (ICORD); May 20-22, 2008; Washington, DC. 9. Clowse M, Richesson R, Pieper C, Merkel PA, Consortium VCR. Pregnancy in Men and Women with Vasculitis. Paper presented at: American College of Rheumatology Annual Scientific Meeting; November 5-9, 2011; Chicago, IL. 10. Clowse M, Richesson R, Pieper C, Merkel PA, Consortium VCR. Infertility Among Patients with Vasculitis. Paper presented at: American College of Rheumatology Annual Meeting; November 5-9, 2011; Chicago, IL. 11. Ashizawa T, Perlman S, Gomez C, Wilmot G, Schmahmann J, Ying S, Zesiewicz T, Paulson H, Shakkottai VG, Bushara K, Mazzoni P, Kuo S, Pulst S, Figueroa K, Xia G, Krischer J, Cuthbertson D, Holbert AR, Ferguson J, Galpern W, Subramony SH. Clinical Characteristics of Spinocerebellar Ataxias 1, 2, 3 and 6. Paper presented at: American Academy of Neurology 64th Annual Meeting; April 21-28, 2012; New Orleans, LA. 12. Graves T, Cha Y, Hahn A, Barohn RJ, Amato A, Griggs R, Bundy B, Jen JC, Baloh R, Hanna M. Episodic ataxia type 1: Characterization of the disease and its effect on quality of life. Paper presented at: American Academy of Neurology; April 21-28, 2012; New Orleans. 13. Graves T, Fialho D, Smith S, Cha Y, Amato A, Griggs R, Bundy B, Jen JC, Baloh R, Hanna M. EEG abnormalities in the episodic ataxias. Paper presented at: American Academy of Neurology; April 21-28, 2012; New Orleans, LA. 14. Richesson R, Shereff D, Lloyd J, Young K, Guillette H, Paulus K, Harris J, Cuthbertson D, Krischer J, Rare Diseases Clinical Research Network. RDCRN Contact Registry to Support Research in Rare Diseases. Poster presented at: Yale Center for Clinical Investigation. 5th Annual Clinical Research Management Workshop; June 4-5, 2012; New Haven, CT. 15. Grayson PC, Amudala NA, McAlear C, LeDuc RL, Shereff D, Richesson R, Fraenkel L, Merkel PA. Illness perceptions among patients with different forms of vasculitis. Paper presented at: American College of Rheumatology/Association of Rheumatology Health Professionals (ACR/ARHP) Annual Meeting; November 10-14, 2012; Washington, DC. 16. Grayson PC, Amudala NA, McAlear C, LeDuc RL, Shereff D, Richesson R, Fraenkel L, Merkel PA. Assessing fatigue in systemic vasculitis from the patient’s perspective. Paper presented at: American College of Rheumatology/Association of Rheumatology Health Professionals (ACR/ARHP) Annual Meeting; November 10-14, 2012; Washington, DC. 17. Grayson PC, Amudala NA, McAlear C, LeDuc RL, Shereff D, Richesson R, Fraenkel L, Merkel PA. Causal beliefs of disease among patients with systemic vasculitis. Paper presented at: American College of Rheumatology/Association of Rheumatology Health Professionals (ACR/ARHP) Annual Meeting; November 10-14, 2012; Washington, DC. 18. Hall CA, Bacon CJ, Shy ME, Inherited Neuropathies Consortium, Rare Diseases Clinical Research Network Data Management and Coordinating Center. The Rare Diseases Clinical Research Network Contact Registry for the Inherited Neuropathies Consortium. Charcot-Marie-Tooth Association, 5th International CMT Consortium Meeting. Antwerp, Belgium2013. 19. Leduc R, Hall C, Shereff D, Lloyd J, Young K, Guillette H, Harris J, Gandolfo L, Cuthbertson D, Krischer J. An Overview of the Rare Diseases Clinical Research Network. Paper presented at: Lysosomal Disease Network, 9th Annual WORLD Symposium; Feb. 12-15, 2013; Orlando, FL. 20. Richesson R. Strategies to harmonize data collection: a perspective from the RDCRN Data Management & Coordinating Center. Paper presented at: Pediatric Academic Societies Annual Meeting; May 4-7, 2013; Washington, DC. 21. Hainline C, Rizzo D, Shy ME, Inherited Neuropathies Consortium, Rare Diseases Clinical Research Network Data Management and Coordinating Center. Enhancements to the RDCRN 4 Contact Registry for the Inherited Neuropathies Consortium. Poster presented at Peripheral Nerve Society Annual Meeting; Jul. 8-12, 2017; Sitges, Spain. 22. Williams M, Krischer J. Enhancements to the Rare Diseases Clinical Research Network Contact Registry, Poster presented at: Lysosomal Disease Network, 14th Annual WORLD Symposium; Feb. 5-9, 2018; San Diego, CA. https://doi.org/10.1016/j.ymgme.2017.12.410 Conference Proceedings 1. Richesson R, Smith S, Malloy J, Krischer J. Achieving standardized medication data in clinical research studies: two approaches and applications for implementing RxNorm. Paper presented at: AMIA (American Medical Informatics Association), Spring Congress; May 22-24, 2007; Orlando, FL. 2. Diethelm-Okita B, Utz J, Eichler FS, Ziegler RS, Leduc RL, Whitley CB. A Natural History of Hexosaminidase Deficiency. Paper presented at: Molecular Genetics and Metabolism2012. 3. Leigh M, Shapiro AJ, Pittman JE, Davis SD, Lee H, Krischer J, Ferkol TW, Atkinson JJ, Sagel SD, Rosenfeld M, Dell SD, Milla C, Olivier KN, Knowles M. Definition of clinical criteria for diagnosis of primary ciliary dyskinesia. Paper presented at: American Journal of Respiratory and Critical Care Medicine2012. 4. Richesson R, Shereff D, Sutphen R, Guillette H, Paulus K, Merkel PA, Clowse M, Harris J, Cuthbertson D, Leduc R, Krischer JP. Patient Registries to Support Research in Rare Diseases – Experience from the Rare Diseases Clinical Research Network. Paper presented at: Lysosomal Disease Network, 8th Annual World Symposium 2012; San Diego, CA. 5. Holbert A. Clinical Research
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