E. Rush

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

D. Nickerson, M. Bamshad, I. Thiffault, 2020, EMBO molecular medicine.

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

E. Lewiecki, F. Marini, L. Yao, 2023, Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA.

A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States

K. Dahir, E. Rush, P. S. Kishnani, 2024, Journal of endocrinological investigation.