Rare Diseases
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Subject Areas on Research
- A global reference for human genetic variation.
- A permutation procedure to correct for confounders in case-control studies, including tests of rare variation.
- A public health framework for rare blood disorders.
- A web-based SNOMED CT browser: distributed and real-time use of SNOMED CT during the clinical research process.
- A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.
- Accepting risk in the acceleration of drug development for rare cancers.
- Adaptive design methods in clinical trials - a review.
- An automated communication system in a Contact Registry for persons with rare diseases: tools for retaining potential clinical research participants.
- An automated communication system in a contact registry for persons with rare diseases: scalable tools for identifying and recruiting clinical research participants.
- Aortic subannular left ventricular aneurysm: a rare and surgically correctable cause of angina.
- Aquagenic wrinkling: a unique facial presentation.
- Characteristics of undiagnosed diseases network applicants: implications for referring providers.
- Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
- Coverage of rare disease names in standard terminologies and implications for patients, providers, and research.
- Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).
- Data sharing in the undiagnosed diseases network.
- Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data.
- Drug development in the era of precision medicine.
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
- Efficacy of the Priority Review Voucher Program.
- Extranodal Castleman disease of the extremities: a case report and review of the literature.
- Follicular dendritic cell sarcoma of the mediastinum.
- Genetic convergence of rare lymphomas.
- Hemolytic anemia: a rare but potentially serious adverse effect of captopril.
- Hereditary angioedema: the rewards of studying a rare disease.
- Hospital Volume Threshold for the Treatment of Retroperitoneal Sarcoma.
- If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).
- Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.
- Irreversible electroporation in a case of pancreatic leiomyosarcoma: a novel weapon versus a rare malignancy?
- Is acute heart failure a highly prevalent orphan disease?
- Isavuconazole treatment for rare fungal diseases and for invasive aspergillosis in patients with renal impairment: Challenges and lessons of the VITAL trial.
- Isolated Double Orifice Mitral Valve - a Rare Finding in an Elderly Man.
- Large mesenteric lymphangioma in an adult patient: an unusual presentation of a rare disease.
- Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
- Making progress in a rare disease: emerging therapeutics in soft tissue sarcomas.
- Malignant giant cell tumor of soft parts.
- Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
- Multiseptate gallbladder.
- New observation of sialuria prompts detection of liver tumor in previously reported patient.
- Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.
- Obstructive sleep apnea (OSA): a complication of acute infectious mononucleosis infection in a child.
- Patient registries: utility, validity and inference.
- PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases.
- Physical and psychological health in rare cancer survivors.
- Primary granulocytic sarcoma of larynx.
- Proposed 'grant-and-access' program with price caps could stimulate development of drugs for very rare diseases.
- Pseudo-tumor of the lung, a rare clinical presentation of dirofilariasis.
- Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
- Rare Lesions of the Internal Auditory Canal.
- Rare cases of large parapharyngeal lipomas.
- Research challenges in central nervous system manifestations of inborn errors of metabolism.
- SNOMED CT coding variation and grouping for "other findings" in a longitudinal study on urea cycle disorders.
- Sonography in the identification of calciphylaxis of the breast.
- Spondyloarthropathy presenting at a young age: case report and review.
- Squamous cell carcinoma of the duodenum: an exceedingly rare diagnosis.
- Standard terminology on demand: facilitating distributed and real-time use of SNOMED CT during the clinical research process.
- Sternal metastasis as first presentation of a well-differentiated papillary thyroid carcinoma.
- The Rare Diseases Clinical Research Network Contact Registry update: features and functionality.
- The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
- The continuum of causality in human genetic disorders.
- Therapeutic options for variant renal cancer: a true orphan disease.
- Toxic colitis with megacolon in a patient with malrotation.
- Unilateral luteoma of pregnancy mimicking a malignant ovarian mass on magnetic resonance and ultrasound.
- Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis.
- Utilizing population controls in rare-variant case-parent association tests.
- Variation of SNOMED CT coding of clinical research concepts among coding experts.
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Keywords of People
- Richesson, Rachel L, Associate Professor in the School of Nursing, School of Nursing
- Zigler, Christina Kelsey, Assistant Professor in Population Health Sciences, Population Health Sciences