Jessica Goehringer
Genomic Health (United States)(US)Geisinger Health System(US)
Publications by Year
Research Areas
Pancreatic function and diabetes, Genomics and Rare Diseases, BRCA gene mutations in cancer, Diabetes Management and Research, Cardiac pacing and defibrillation studies
Most-Cited Works
- → Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network(2019)115 cited
- → Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts(2022)91 cited
- → De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females(2016)68 cited
- → Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot(2017)29 cited
- → Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR(2018)18 cited
- → Evolving cardiovascular genetic counseling needs in the era of precision medicine(2023)15 cited
- → Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative(2022)11 cited
- → Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program(2022)11 cited
- → The penetrance of age-related monogenic disease depends on ascertainment context(2021)7 cited
- → Neptune: an environment for the delivery of genomic medicine(2021)7 cited