Amy E. Knight Johnson

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Steven M. Harrison, Jill S. Dolinsky, Amy E. Knight Johnson et al. · Genetics in Medicine · 2017 · 242 citations · Full text

Allelic Variant, Variant Interpretations, Clinical Translation +6

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 66 citations · Full text

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Steven M. Harrison, Jill Dolinksy, Wenjie Chen et al. · Human Mutation · 2018 · 65 citations

Genetic Epidemiology, Diagnosis, Pathology +28

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Kai Lee Yap, Amy E. Knight Johnson, David S. Fischer et al. · Genetics in Medicine · 2018 · 64 citations · Full text

Genetic Disorder, Inherited Metabolic Disease, Congenital Hyperinsulinism +6

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding

Patrick R. Blackburn, Alexander Tischer, Michael T. Zimmermann et al. · Journal of Biological Chemistry · 2017 · 26 citations · Full text

Protein Function, Signal Transduction, Ankyrin Repeat +10