Rare Diseases
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Subject Areas on Research
- A Rare Manifestation of a Rare Disease: The Importance of Thinking Outside the Box in a Patient With Complex Dermatomyositis.
- A global reference for human genetic variation.
- A public health framework for rare blood disorders.
- A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
- 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.
- Aortic subannular left ventricular aneurysm: a rare and surgically correctable cause of angina.
- Aquagenic wrinkling: a unique facial presentation.
- Association of Health-Care System and Survival in African American and Non-Hispanic White Patients With Bladder Cancer.
- 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.
- Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
- Context-Based Identification of Muscle Invasion Status in Patients With Bladder Cancer Using Natural Language Processing.
- Data sharing in the undiagnosed diseases network.
- Demonstrating effectiveness or demonstrating not ineffectiveness - A potential solution for rare disease drug product development?
- Developing comparative effectiveness studies for a rare, understudied pediatric disease: lessons learned from the CARRA juvenile localized scleroderma consensus treatment plan pilot study.
- Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data.
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
- Efficacy of the Priority Review Voucher Program.
- Exome/Genome Sequencing in Undiagnosed Syndromes.
- Extranodal Castleman disease of the extremities: a case report and review of the literature.
- Federated learning enables big data for rare cancer boundary detection.
- Follicular dendritic cell sarcoma of the mediastinum.
- Genetic convergence of rare lymphomas.
- Hemolytic anemia: a rare but potentially serious adverse effect of captopril.
- 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).
- Incidental Squamous Cell Carcinoma In Situ in a Large Pharyngoesophageal (Zenker's) Diverticulum.
- Incidental urothelial rest within the vermiform appendix of a paediatric male patient: an extremely rare entity.
- Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.
- Innovative design and analysis for rare disease drug development.
- Irreversible electroporation in a case of pancreatic leiomyosarcoma: a novel weapon versus a rare malignancy?
- 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.
- Isolated partial anomalous pulmonary venous return with intact atrial septum: a rare but treatable cause of pulmonary hypertension in adults.
- 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.
- Operative Treatment of Pediatric Pelvic and Acetabulum Fractures.
- PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases.
- Physical and psychological health in rare cancer survivors.
- Polyarteritis Nodosum of the Breast in a Patient with History of Bilateral Augmentation Mammoplasty.
- Potential insights into the role of biomechanical stress in axial spondyloarthritis from idiopathic hypoparathyroidism, a rare disease with intriguing skeletal manifestations.
- Pre-intervention morphologic and functional echocardiographic characteristics of neonates with critical left heart obstruction: a Congenital Heart Surgeons Society (CHSS) inception cohort study.
- Primary granulocytic sarcoma of larynx.
- Probability monitoring procedures for sample size determination.
- Proposed 'grant-and-access' program with price caps could stimulate development of drugs for very rare diseases.
- Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
- Rare Lesions of the Internal Auditory Canal.
- Rare Things Being Common: Implications for Common Genetic Variants in Rare Diseases Like Long-QT Syndrome.
- Rare cases of large parapharyngeal lipomas.
- Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.
- Rare lysosomal disease registries: lessons learned over three decades of real-world evidence.
- Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network.
- Research challenges in central nervous system manifestations of inborn errors of metabolism.
- Reverse Translation in Advancing Pharmacotherapy in Pediatric Rheumatology: A Logical Approach in Rare Diseases with Limited Resources.
- Sonography in the identification of calciphylaxis of the breast.
- Spondyloarthropathy presenting at a young age: case report and review.
- Statistical considerations for rare diseases drug development.
- Sternal metastasis as first presentation of a well-differentiated papillary thyroid carcinoma.
- Suitability of Automated Writing Measures for Clinical Trial Outcome in Writer's Cramp.
- The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
- The Impact of Set-Up Uncertainty on Dose-Response Estimates.
- The importance of rigorous methods in observational comparative effectiveness studies of rare diseases: comment on the article by Ruperto et al.
- Therapeutic options for variant renal cancer: a true orphan disease.
- Toxic colitis with megacolon in a patient with malrotation.
- Treating the enigmatic "exceptional responders" as patients with undiagnosed diseases.
- Uncommon Cause of Fever and Embolism: Staphylococcus epidermidis Infected Myxoma.
- Unilateral luteoma of pregnancy mimicking a malignant ovarian mass on magnetic resonance and ultrasound.
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Keywords of People
- Cade, William Todd, Professor of Orthopaedic Surgery, Orthopaedic Surgery, Physical Therapy
- Zigler, Christina Kelsey, Assistant Professor in Population Health Sciences, Population Health Sciences