James A. Nassur

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

I. Krantz, N. Spinner, B. Krock, 2019, Human mutation.

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

I. Krantz, N. Spinner, L. Conlin, 2020, Genetics in Medicine.

Human Mutation

I. Krantz, N. Spinner, B. Krock, 2019 .