J. Goehringer

Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative

Laney K. Jones, Cassandra J. Pisieczko, A. Sturm, 2022, Journal of personalized medicine.

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

M. Weedon, A. Hattersley, A. Wood, 2022, American journal of human genetics.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

The penetrance of age-related monogenic disease depends on ascertainment context

M. Weedon, A. Hattersley, A. Wood, 2021, medRxiv.

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

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

Evolving cardiovascular genetic counseling needs in the era of precision medicine

D. Sanoudou, A. Morales, J. Goehringer, 2023, Frontiers in Cardiovascular Medicine.

Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot

E. Leipold, I. Kurth, T. Challman, 2017, neurogenetics.