Amy E. Knight Johnson

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

Update of variants identified in the pancreatic β‐cell K _ATP channel genes <i>KCNJ11</i> and <i>ABCC8</i> in individuals with congenital hyperinsulinism and diabetes

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants

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

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

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

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

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

ROW: Microscopic Structure and Functional Mechanical Properties of the Feeding Tentacles of Terebellid PolychaeteWorms