Jessica Goehringer

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

Hana Zouk, Eric Venner, Niall J. Lennon et al. · The American Journal of Human Genetics · 2019 · 115 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +14

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

Uyenlinh L. Mirshahi, Kevin Colclough, Caroline F. Wright et al. · The American Journal of Human Genetics · 2022 · 98 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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

Elizabeth E. Palmer, Till Stuhlmann, Stefanie Weinert et al. · Molecular Psychiatry · 2016 · 72 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Evolving cardiovascular genetic counseling needs in the era of precision medicine

Ana Morales, Jessica Goehringer, Despina Sanoudou · Frontiers in Cardiovascular Medicine · 2023 · 21 citations · Full text

Medicine, Cardiology, Genetics +10

Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR

Jessica Goehringer, Michele Bonhag, Laney K. Jones et al. · eGEMs (Generating Evidence & Methods to improve patient outcomes) · 2018 · 18 citations · Full text

Computing, Biomedical Informatics, Health Informatics +15