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.
Leiomyosarcoma of the adrenal vein: a novel approach to surgical resection.
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.
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