Jessica Goehringer

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

The American Journal of Human Genetics · 2022 · 79 citations

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

Case report · Molecular Psychiatry · 2018 · 61 citations