Genetic Disease

Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

Penn Medicine Biobank Return of Results Program

Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

Prenatal Cell-free DNA Screening in Pregnancies With Diverse Genetic Risk Profiles Utilizing Targeted and Whole-exome Sequencing

Contribution of Oncogenetics in Breast Cancer in Reunion Epidemiology of Breast Cancer in Reunion: Study of the Reunion Mutation on BRCA2

Caspase-1 Activity, IL-1beta, and IL-18 in Patients With FMF

Natural History of Type 1 Interferonopathies: Insights From a European Cohort

Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)

Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada

Auditory Restoration and Outcomes After Gene Therapy and Cochlear Implantation: a PRospective Cohort Analysis (AURORA)

Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment

Rett Syndrome Registry

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria

Educational Video for Genetic Testing

Genetic Studies in the Amish and Mennonites

Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders