Patricia L Gordon

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Newborn Screening for Pompe Disease: Pennsylvania Experience

Damara N. Ortiz, J. DiPerna, C. Ficicioglu, 2020, International journal of neonatal screening.

Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients.

E. Jurecki, R. Suter, Patricia L Gordon, 2012, Molecular genetics and metabolism.