L. Gaffney

Declining prevalence of cystic fibrosis since the introduction of newborn screening

J. Carlin, L. Curnow, J. Massie, 2010, Archives of Disease in Childhood.

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction

Z. Stark, D. Francis, H. Slater, 2015, American journal of medical genetics. Part A.

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Joshua S. Clayton, R. Carrozzo, M. Digilio, 2021, Human mutation.