Karen David

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype…

Human Mutation · 2015 · 146 citations

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine · 2019 · First of 12 authors · Corresponding · 112 citations